Ikuya Nonaka
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(Suggest an Edit or Addition)Ikuya Nonaka's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies (1990) (1908)
- Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in mice (2009) (925)
- Myogenin gene disruption results in perinatal lethality because of severe muscle defect (1993) (899)
- Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease) (2000) (857)
- An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy (1998) (787)
- Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide (1988) (562)
- Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. (1991) (517)
- Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy (1995) (489)
- MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. (1992) (460)
- Inter-mitochondrial complementation: Mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA (2001) (410)
- Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. (2009) (363)
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS) (1992) (343)
- Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations (2000) (318)
- A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). (1991) (316)
- Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation (1981) (265)
- Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31–33 (1993) (240)
- The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. (2001) (233)
- Laminin α2 chain‐null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)‐deficient congenital muscular dystrophy (1997) (229)
- Mutations in the integrin α7 gene cause congenital myopathy (1998) (226)
- Clinicopathological features of genetically confirmed Danon disease (2002) (214)
- Skeletal muscle gene expression in space‐flown rats (2004) (207)
- Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1) (2003) (202)
- Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies. (1997) (201)
- Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes (2000) (200)
- Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophy (2001) (197)
- Autophagic degradation of nuclear components in mammalian cells (2009) (195)
- α1-Syntrophin Gene Disruption Results in the Absence of Neuronal-type Nitric-oxide Synthase at the Sarcolemma but Does Not Induce Muscle Degeneration* (1999) (190)
- Caveolin-3 deficiency causes muscle degeneration in mice. (2000) (177)
- 0261 Central core disease is due to RyR1 mutations in more than 90% of patients (2005) (171)
- Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. (2002) (170)
- Abnormal localization of laminin subunits in muscular dystrophies (1993) (164)
- Mutations in the integrin alpha7 gene cause congenital myopathy. (1998) (161)
- Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model (2009) (159)
- Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses. (1989) (155)
- Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. (1995) (155)
- Space shuttle flight (STS‐90) enhances degradation of rat myosin heavy chain in association with activation of ubiquitin‐proteasome pathway (2001) (154)
- Strongly succinate dehydrogenase–reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (1991) (152)
- Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle (2008) (150)
- Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy. (1989) (150)
- Vascular involvement in mitochondrial myopathy (1989) (148)
- Reduction of UDP-N-acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase Activity and Sialylation in Distal Myopathy with Rimmed Vacuoles* (2004) (148)
- MKBP, a Novel Member of the Small Heat Shock Protein Family, Binds and Activates the Myotonic Dystrophy Protein Kinase (1998) (146)
- Myonuclear domain and myosin phenotype in human soleus after bed rest with or without loading. (1999) (145)
- Dystrophinopathy in isolated cases of myopathy in females (1992) (144)
- Actin mutations are one cause of congenital fibre type disproportion (2004) (143)
- Human mitochondria and mitochondrial genome function as a single dynamic cellular unit (1994) (142)
- Ubiquitin Ligase Cbl-b Is a Negative Regulator for Insulin-Like Growth Factor 1 Signaling during Muscle Atrophy Caused by Unloading (2009) (138)
- Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy. (1988) (137)
- Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): Immunocytochemical and genetic analyses (1995) (136)
- Negative immunostaining of Duchenne muscular dystrophy(DMD) and mdx muscle surface membrane with antibody against synthetic peptide fragment predicted from DMD cDNA. (1988) (134)
- A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. (2007) (133)
- Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels. (2015) (125)
- Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness (2006) (123)
- Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing. (1999) (123)
- Canine X-linked muscular dystrophy in Japan (CXMDJ). (2003) (120)
- Targeted disruption of exon 52 in the mouse dystrophin gene induced muscle degeneration similar to that observed in Duchenne muscular dystrophy. (1997) (119)
- ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (2009) (118)
- Chronic progressive external ophthalmoplegia: A correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies (1990) (112)
- A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy (1992) (111)
- TMEM43 mutations in emery‐dreifuss muscular dystrophy‐related myopathy (2011) (110)
- Gravitational unloading effects on muscle fiber size, phenotype and myonuclear number. (2002) (109)
- Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles. (2006) (108)
- A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). (1994) (105)
- A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. (2011) (104)
- Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy. (1997) (104)
- Dystrophin-related protein in the fetal and denervated skeletal muscles of normal and mdx mice. (1991) (101)
- Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro. (2012) (101)
- Autosomal recessive distal muscular dystrophy: A comparative study with distal myopathy with rimmed vacoule formation (1985) (101)
- Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions (2008) (97)
- Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy (2001) (96)
- Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy (2002) (96)
- Deficiency of α-Dystroglycan in Muscle–Eye–Brain Disease (2002) (95)
- Laminin in Animal Models for Muscular Dystrophy Defect of Laminin M in Skeletal and Cardiac Muscles and Peripheral Nerve of the Homozygous Dystrophic dy/dy Mice. (1993) (94)
- Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan (2007) (94)
- Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy (2002) (92)
- Findings in muscle in complex I (NADH coenzyme Q reductase) deficiency (1988) (91)
- POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in α-DG (2004) (90)
- Ullrich disease due to deficiency of collagen VI in the sarcolemma (2004) (89)
- Myoclonus epilepsy associated with ragged‐red fibers: A G‐to‐A mutation at nucleotide pair 8363 in mitochondrial tRNALys in two families (1997) (89)
- Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands (2002) (88)
- The frequency of patients with dystrophin abnormalities in a limb‐girdle patient population (1991) (87)
- Reciprocal expression of dystrophin and utrophin in muscles of Duchenne muscular dystrophy patients, female DMD-carriers and control subjects (1993) (86)
- Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy (1991) (85)
- Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9 (1997) (85)
- Autophagic Vacuoles with Sarcolemmal Features Delineate Danon Disease and Related Myopathies (2005) (85)
- Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patient (1985) (85)
- Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. (2001) (82)
- Quadriceps myopathy: Forme fruste of Becker muscular dystrophy (1990) (79)
- Pathophysiology of muscle fiber necrosis induced by bupivacaine hydrochloride (Marcaine) (2004) (79)
- Dysferlin mutations in Japanese Miyoshi myopathy (2003) (78)
- Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle. (1994) (77)
- Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy. (2011) (76)
- Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy (1993) (75)
- Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function. (1993) (75)
- Mitochondrial gene mutation and insulin-deficient type of diabetes mellitus (1993) (73)
- Distal myopathy with rimmed vacuole formation. A follow-up study. (1989) (73)
- Ullrich disease: Collagen VI deficiency: EM suggests a new basis for muscular weakness (2002) (72)
- Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy (2005) (72)
- Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients (2003) (71)
- Dp260 disrupted mice revealed prolonged implicit time of the b-wave in ERG and loss of accumulation of beta-dystroglycan in the outer plexiform layer of the retina. (1997) (71)
- Schwann cell myelination occurred without basal lamina formation in laminin α2 chain‐null mutant (dy3K/dy3K) mice (2001) (71)
- Tension- and afferent input-associated responses of neuromuscular system of rats to hindlimb unloading and/or tenotomy. (2004) (70)
- Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms. (1989) (69)
- Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome. (1987) (68)
- Clinical and genetic analysis of lipid storage myopathies (2009) (68)
- Altered expression of the α7β1 integrin in human and murine muscular dystrophies (1997) (67)
- Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. (2017) (66)
- Recovery of the missing tumorigenicity in mitochondrial DNA-less HeLa cells by introduction of mitochondrial DNA from normal human cells (1992) (66)
- Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan (2004) (65)
- Maximal and submaximal forces of slow fibers in human soleus after bed rest. (2001) (65)
- A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions (2002) (64)
- A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy). (1981) (64)
- Inflammatory changes in infantile-onset LMNA-associated myopathy (2011) (64)
- Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients. (1991) (64)
- Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods (2003) (63)
- The pathogenesis of ACTA1‐related congenital fiber type disproportion (2007) (63)
- Animal models of muscular dystrophies. (1998) (62)
- Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy (2001) (62)
- Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation (2008) (62)
- A new congenital muscular dystrophy with mitochondrial structural abnormalities (1998) (61)
- Expression of utrophin (dystrophin‐related protein) and dystrophin‐associated glycoproteins in muscles from patients with Duchenne muscular dystrophy (1994) (60)
- The first molecular evidence that autophagy relates rimmed vacuole formation in chloroquine myopathy. (2002) (59)
- Expression of MyoD and myogenin in dystrophic mice, mdx and dy, during regeneration (2000) (58)
- The significance of type 2C muscle fibers in duchenne muscular dystrophy (1981) (58)
- Transforming growth factor‐β2 is elevated in skeletal muscle disorders (1999) (58)
- Expression of dystrophin-associated protein 35DAG (A4) and 50DAG (A2) is confined to striated muscles. (1994) (57)
- Afferent input-associated reduction of muscle activity in microgravity environment (2002) (57)
- CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations (2020) (56)
- Immunohistochemical analysis of perforin and granzyme A in inflammatory myopathies (1994) (56)
- Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy (1997) (56)
- Ontogenetic, gravity-dependent development of rat soleus muscle. (2001) (56)
- Congenital nemaline myopathy with dilated cardiomyopathy: an autopsy study. (1990) (55)
- Increase in number of sporadic inclusion body myositis (sIBM) in Japan (2012) (55)
- Sarcoglycan complex is selectively lost in dystrophic hamster muscle. (1995) (55)
- Osteogenic properties of human myogenic progenitor cells (2008) (54)
- Characterization of the Asian myopathy patients with VCP mutations (2012) (54)
- The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies (1993) (53)
- Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice. (2014) (53)
- Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement (1982) (52)
- Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. (2007) (50)
- The molecular genetic basis of myophosphorylase deficiency (McArdle's disease) (1995) (50)
- Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A. (2000) (50)
- Essential role of satellite cells in the growth of rat soleus muscle fibers. (2008) (50)
- Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy) (2013) (50)
- Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. (1985) (50)
- Increased mitochondrial DNA in blood vessels and ragged‐red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS) (1993) (50)
- Focal cytochrome c oxidase deficiency in various neuromuscular diseases (1989) (50)
- Satellite cells and muscle regeneration in diseased human skeletal muscles (1977) (49)
- Distal lipid storage myopathy due to PNPLA2 mutation (2008) (49)
- Infantile autophagic vacuolar myopathy is distinct from Danon disease (2001) (49)
- Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1) (2008) (48)
- Single muscle fiber analysis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS) (1994) (48)
- NOVEL FHL1 MUTATIONS IN FATAL AND BENIGN REDUCING BODY MYOPATHY (2009) (48)
- DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions (2013) (48)
- Regulation of the properties of rat hind limb muscles following gravitational unloading. (2002) (47)
- Malignant hyperthermia and related neuromuscular diseases: Caffeine contracture of the skinned muscle fibers (1983) (47)
- Muscle pathology in Marinesco-Sjögren syndrome (1989) (47)
- The Interorganellar Interaction between Distinct Human Mitochondria with Deletion Mutant mtDNA from a Patient with Mitochondrial Disease and with HeLa mtDNA* (1997) (47)
- Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO) (1994) (47)
- Histochemical responses of human soleus muscle fibers to long-term bedrest with or without countermeasures. (2000) (47)
- Congenital muscular dystrophy (1996) (46)
- Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B1 and B2 (1997) (46)
- Early Onset of Lipofuscin Accumulation in Dystrophin-Deficient Skeletal Muscles of DMD Patients and mdx Mice (2003) (46)
- Effects of nine weeks of unloading on neuromuscular activities in adult rats. (2002) (46)
- Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B (2009) (46)
- Decreased myotonin-protein kinase in the skeletal and cardiac muscles in myotonic dystrophy. (1994) (46)
- Accumulation of Tau in Autophagic Vacuoles in Chloroquine Myopathy (1998) (45)
- Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications (2000) (45)
- The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) (1996) (44)
- A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement (2003) (44)
- Initiation of satellite cell replication in bupivacaine-induced myonecrosis (2004) (44)
- Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: A comparative study (1993) (44)
- A monoclonal antibody against a synthetic polypeptide fragment of dystrophin (amino acid sequence from position 215 to 264). (1988) (43)
- Immunocytochemical analysis of dystrophin in congenital muscular dystrophy (1991) (43)
- Renal and skin involvement in a patient with complete Kearns-Sayre syndrome. (1991) (42)
- Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome (1998) (42)
- Abnormal increases of lysosomal cysteinine proteinases in rimmed vacuoles in the skeletal muscle. (1986) (42)
- Hypoparathyroidism and insulin‐dependent diabetes mellitus in a patient with Kearns–Sayre syndrome harbouring a mitochondrial DNA deletion (1996) (42)
- Characterization of Danon disease in a male patient and his affected mother (2003) (42)
- Deficiency of alpha-dystroglycan in muscle-eye-brain disease. (2002) (42)
- Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240kb deletion in Xq28 without male hypogenitalism (2005) (42)
- Peracetylated N-Acetylmannosamine, a Synthetic Sugar Molecule, Efficiently Rescues Muscle Phenotype and Biochemical Defects in Mouse Model of Sialic Acid-deficient Myopathy* (2011) (41)
- Congenital muscular dystrophy with glycosylation defects of α-dystroglycan in Japan (2005) (41)
- Cardiac ankyrin repeat protein is preferentially induced in atrophic myofibers of congenital myopathy and spinal muscular atrophy (2003) (40)
- A case of McLeod syndrome with unusually severe myopathy (1999) (40)
- Sarcolemmopathy: Muscular Dystrophies with Cell Membrane Defects (2001) (40)
- Hepatitis C virus infection in inclusion body myositis (2016) (40)
- Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy (2017) (40)
- The association between haematological manifestation and mtDNA deletions in Pearson syndrome (1997) (39)
- Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation. (1995) (39)
- [Molecular pathomechanism of distal myopathy with rimmed vacuoles]. (2005) (39)
- Pathological analysis of muscle hypertrophy and degeneration in muscular dystrophy in γ-sarcoglycan-deficient mice (2003) (39)
- Limb-girdle muscular dystrophy due to emerin gene mutations. (2007) (38)
- Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies. (2006) (38)
- In vivo characterization of mutant myotilins. (2012) (38)
- A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy. (1996) (38)
- Apoptosis is suspended in muscle of mitochondrial encephalomyopathies (2002) (38)
- Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD) (1998) (38)
- Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease. (1994) (37)
- Antibody against the C-terminal portion of dystrophin crossreacts with the 400 kDa protein in the pia mater of dystrophin-deficient mdx mouse brain. (1990) (37)
- Childhood acid maltase deficiency. A clinical, biochemical, and morphologic study of three patients. (1984) (37)
- Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy (2001) (37)
- A novel mtDNA C11777A mutation in Leigh syndrome. (2003) (37)
- Selective Vacuolar Degeneration in Dystrophin-Deficient Canine Purkinje Fibers Despite Preservation of Dystrophin-Associated Proteins With Overexpression of Dp71 (2008) (36)
- Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan (1999) (36)
- Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing (2012) (36)
- Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene (2000) (36)
- Muscle histopathology in myoclonus epilepsy with ragged-red fibers (MERRF) (1991) (36)
- Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study (2012) (36)
- A genetic variant of Emery-Dreifuss disease. Muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis. (1984) (35)
- Dysferlinopathy associated with rigid spine syndrome (2004) (35)
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case (1986) (35)
- Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin. (1993) (35)
- Up-regulation of glial cell line-derived neurotrophic factor (GDNF) expression in regenerating muscle fibers in neuromuscular diseases (1998) (34)
- A neonatal form of glycogen storage disease type IV (2003) (34)
- [Preimplantation diagnosis]. (1998) (34)
- A new diagnostic test for VLCAD deficiency using immunohistochemistry (2004) (33)
- Unfolded protein response and aggresome formation in hereditary reducing‐body myopathy (2007) (32)
- Frequent mutations in Japanese patients with acid maltase deficiency (2000) (32)
- Cardiac-Restricted Ankyrin-Repeated Protein Is Differentially Induced in Duchenne and Congenital Muscular Dystrophy (2003) (32)
- The Frequency of Patients With 50-kd Dystrophin-Associated Glycoprotein (50DAG or adhalin) Deficiency in a Muscular Dystrophy Patient Population in Japan (1995) (32)
- Basement membrane abnormality in merosin-negative congenital muscular dystrophy (1996) (32)
- Reversible infantile respiratory chain deficiency: A clinical and molecular study (2010) (32)
- A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy (2003) (32)
- Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology (2012) (32)
- Effect of denervation of neonatal rat sciatic nerve on the differentiation of myosin in a single muscle fiber (1981) (32)
- Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress (2003) (32)
- Muscle fiber growth and necrosis in dystrophic muscles: a comparative study between dy and mdx mice (1987) (31)
- Fetal muscle characteristics in nemaline myopathy. (1983) (31)
- DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan (2015) (31)
- Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: Comparison with the phenotype and the proportion of mutant genome (1998) (30)
- Effective adenovirus‐mediated gene expression in adult murine skeletal muscle (1999) (30)
- Glycogen storage myopathies. (2000) (30)
- Dominant mutations in ORAI 1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca 2 1 channels (2014) (30)
- Muscle coenzyme Q10 in mitochondrial encephalomyopathies (1991) (30)
- Tissue specificity in cytochrome c oxidase deficient myopathy (1989) (30)
- Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy (1995) (29)
- Homozygous female Becker muscular dystrophy (2009) (29)
- A new congenital form of X-linked autophagic vacuolar myopathy (2005) (29)
- Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome (1998) (29)
- Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG)11 in PABP2 gene (2000) (29)
- Mitochondrial DNA mutation and Leigh's syndrome (1992) (28)
- Immunochemical study of connectin (titin) in neuromuscular diseases using a monoclonal antibody: connectin is degraded extensively in Duchenne muscular dystrophy (1989) (28)
- Haemopoietic biglycan produced by brain cells stimulates growth of microglial cells (2000) (28)
- [A case of mitochondrial encephalomyopathy with schizophrenic psychosis, dementia and neuroleptic malignant syndrome]. (1991) (28)
- Apoptotic muscle fiber degeneration in distal myopathy with rimmed vacuoles (2000) (28)
- Congenital generalized lipodystrophy type 4 with muscular dystrophy: Clinical and pathological manifestations in early childhood (2013) (28)
- Mitochondrial myopathy with progressive decrease in mitochondrial tRNALeu(UUR) mutant genomes (1994) (27)
- Apoptotic nuclear degeneration in Marinesco-Sjögren syndrome (1997) (27)
- A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom (1995) (27)
- A follow-up study of congenital non-progressive myopathies (1996) (26)
- Psychosis and progressing dementia: Presenting features of a mitochondriopathy (2000) (26)
- Perifascicular atrophic fibers in childhood dermatomyositis with particular reference to mitochondrial changes (1988) (26)
- IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy (2017) (26)
- The 8,344 mutation in mitochondrial DNA: A comparison between the proportion of mutant DNA and clinico-pathologic findings (1995) (26)
- The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders (2001) (26)
- Granulomatous myositis: pathologic re-evaluation by immunohistochemical analysis of infiltrating mononuclear cells (1997) (26)
- A case of MERRF associated with chronic pancreatitis (2001) (26)
- Werdnig-Hoffmann disease: Proposal of a pathogenetic mechanism (1978) (26)
- A dystrophin-associated glycoprotein, A3a (one of 43DAG doublets), is retained in Duchenne muscular dystrophy muscle. (1993) (26)
- Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders. (2009) (25)
- Myopathy in Marinesco-Sjögren syndrome: an ultrastructural study (2004) (25)
- Facioscapulohumeral muscular dystrophy: Muscle fiber type analysis with particular reference to small angular fibers (1991) (25)
- Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy (2013) (25)
- Anastomoses of transverse tubules with terminal cisternae in polymyositis. (1980) (25)
- Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure (2014) (25)
- Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease (2007) (25)
- Sporadic inclusion body myositis in Japanese is associated with the MHC ancestral haplotype 52.1 (2006) (25)
- LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy. (2007) (25)
- Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion (1994) (24)
- Fatal reducing body myopathy. ultrastructural and immnunohistochemical observations (1995) (24)
- A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement (2012) (24)
- Respiratory muscle involvement in nemaline myopathy. (1990) (24)
- Disproportionate Deficiency of Iron-Sulfur Clusters and Subunits of Complex I in Mitochondrial Encephalomyopathy (1989) (24)
- Necrotizing myopathy in a patient with chronic hepatitis C virus infection: a case report and a review of the literature. (2000) (24)
- Presence of emerinopathy in cases of rigid spine syndrome (1998) (23)
- Changes in mitochondrial homeostasis and redox status in astronauts following long stays in space (2016) (23)
- Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins (1995) (23)
- Comparison of behavior in muscle fiber regeneration after bupivacaine hydrochloride- and acid anhydride-induced myonecrosis (2004) (23)
- Correlation of functional and ultrastructural abnormalities of mitochondria in mouse heart carrying a pathogenic mutant mtDNA with a 4696-bp deletion. (2001) (23)
- Peripheral nerve involvement in Werdnig-Hoffmann disease (1989) (23)
- Mitochondrial DNA mutation and muscle pathology in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (1995) (23)
- Defective Myotilin Homodimerization Caused by a Novel Mutation in MYOT Exon 9 in the First Japanese Limb Girdle Muscular Dystrophy 1A Patient (2009) (23)
- A T-to-G Mutation at Nucleotide Pair 8993 in Mitochondrial DNA in a Patient With Leigh's Syndrome (1993) (23)
- Is Nebulin the Product of Duchenne Muscular Dystrophy Gene? (1987) (22)
- Congenital muscular dystrophy A histochemical study with morphometric analysis on biopsied muscles (1985) (22)
- Altered Expression of ARPP Protein in Skeletal Muscles of Patients with Muscular Dystrophy, Congenital Myopathy and Spinal Muscular Atrophy (2003) (22)
- Basilar artery occlusion in a case of Duchenne muscular dystrophy (1982) (22)
- Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy (2019) (22)
- A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome (2002) (21)
- Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies (2012) (21)
- Cardiopulmonary dysfunction in patients with limb‐girdle muscular dystrophy 2A (2016) (21)
- Three new mutations in patients with myophosphorylase deficiency (McArdle disease). (1994) (21)
- Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1. (1998) (21)
- Clinical Picture of a Case of Diabetes With Mitochondrial tRNA Mutation at Position 3271 (1996) (21)
- Distal myopathy with rimmed vacuoles (1998) (21)
- Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. (2005) (21)
- A Nationwide Survey on Danon Disease in Japan (2018) (21)
- MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy (1998) (21)
- A nationwide survey on Marinesco-Sjögren syndrome in Japan (2014) (21)
- Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. (1992) (21)
- Respiratory and cardiac function in japanese patients with dysferlinopathy (2016) (21)
- Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers (2004) (21)
- Muscle histology in becker muscular dystrophy (1991) (20)
- An experimental model of mitochondrial myopathy: Germanium‐induced myopathy and coenzyme Q10 administration (1992) (20)
- Selective defect in dystrophin-associated glycoproteins 50DAG (A2) and 35DAG (A4) in the dystrophic hamster: An animal model for severe childhood autosomal recessive muscular dystrophy (SCARMD) (1994) (20)
- Congenital myotonic dystrophy Changes in muscle pathology with ageing (1987) (20)
- Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene (2002) (20)
- Muscle histopathology in diabetes mellitus associated with mitochondrial tRNALeu(UUR) mutation at position 3243 (1997) (20)
- An electron microscopic study on the experimental congenital Minamata disease in the rat. (1969) (19)
- Simple detection of tRNALys mutation in myoclonus epilepsy associated with ragged‐red fibers (MERRF) by polymerase chain reaction with a mismatched primer (1991) (19)
- [Cardiomyopathy in Becker muscular dystrophy]. (1990) (19)
- Irreversible morphological changes in leg bone following chronic gravitational unloading of growing rats. (2006) (19)
- Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy (2018) (19)
- Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (2010) (19)
- Vascular involvement in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. (2005) (19)
- A novel congenital myopathy with apoptotic changes (2000) (19)
- Muscle fiber degeneration in distal myopathy with rimmed vacuole formation (2004) (19)
- Mitochondrial encephalomyopathy with elderly onset of stroke-like episodes. (1996) (18)
- Congenital fiber type disproportion myopathy in Lowe syndrome. (1989) (18)
- A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA (2001) (18)
- Limb-girdle muscular dystrophy: Clinical and pathologic reevaluation (1995) (18)
- Rapid cataract formation in Marinesco-Sjögren syndrome. (1993) (18)
- Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy (1995) (18)
- Respiratory failure in nemaline myopathy. (1997) (18)
- A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy (2002) (18)
- Immunoblot analysis of dystrophin-related protein (DRP). (1993) (18)
- Mitochondrial abnormalities in selenium‐deficient myopathy (1998) (18)
- Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy (1999) (18)
- Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family (2000) (18)
- Genetic Heterozygous Carriers in Hereditary Muscular Dystrophy of Chickens (1981) (17)
- Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles. (2008) (17)
- Partial deficiency of subunits in complex I or IV of patients with mitochondrial myopathies. (1987) (17)
- Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy (2016) (17)
- An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism. (1993) (17)
- Cytochrome c oxidase activity is deficient in blood vessels of patients with myoclonus epilepsy with ragged-red fibers (2004) (17)
- Atypical form of Menkes kinky hair disease with mitochondrial NADH-CoQ reductase deficiency. (1988) (17)
- Demonstration of acid α-glucosidase in different types of Pompe disease by use of an immunochemical method (1984) (17)
- Long-term therapy with cytochrome c, flavin mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome (1996) (17)
- Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. (2021) (17)
- Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2 (2012) (17)
- Down-regulation of an ankyrin repeat-containing protein, V-1, during skeletal muscle differentiation and its re-expression in the regenerative process of muscular dystrophy (2003) (17)
- A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. (2007) (16)
- COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency (2019) (16)
- Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis (1998) (16)
- A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I (2007) (16)
- Idiopathic hyperCKemia (1984) (16)
- Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan (2016) (16)
- Milder forms of muscular dystrophy associated with POMGNT2 mutations (2015) (16)
- Shaking rat Kawasaki (SRK): a new neurological mutant rat in the Wistar strain (2004) (16)
- Segmental cytochrome c‐oxidase deficiency in CPEO: Teased muscle fiber analysis (1992) (16)
- Congenital fiber type disproportion myopathy caused by LMNA mutations (2014) (16)
- Deficiency of laminin α2‐Chain mRNA in muscle in a patient with merosin‐negative congenital muscular dystrophy (1995) (16)
- Scoliosis associated with central core disease (1994) (16)
- Myosin light chain components in single muscle fibers of duchenne muscular dystrophy (1982) (16)
- Activation of Ras and protection from apoptotic cell death by BDNF in PC12 cells expressing TrkB. (1996) (15)
- A patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency (2000) (15)
- A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract (2011) (15)
- Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype–genotype correlation (2016) (15)
- Alexander disease: clinical, electrodiagnostic and radiographic studies. (1981) (15)
- Familial reducing body myopathy (2007) (15)
- [A case of Becker muscular dystrophy presenting cardiac failure as an initial symptom]. (1990) (15)
- Muscle histochemistry in myotubular (centronuclear) myopathy (1989) (14)
- An electron microscopical study of the T‐system in biopsied muscles from fukuyama type congenital muscular dystrophy (1984) (14)
- Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy (2013) (14)
- A severe muscular dystrophy patient with an internally deleted very short (110 kD) Dystrophin: Presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin (1995) (14)
- Diagnostic Significance of Membrane Attack Complex and Vitronectin in Childhood Dermatomyositis (2005) (14)
- Progressive brainstem and white matter lesions in Kearns—Sayre syndrome: a case report (1994) (14)
- Cerebral cortex and brainstem involvement in marinesco‐sjögren syndrome (1990) (14)
- Hereditary peroneal muscular atrophy in the mouse: An experimental model for congenital contractures (arthrogryposis) (1986) (13)
- An electron microscopical study of the muscle in congenital muscular dystrophy. (1972) (13)
- Patterns of dystrophin gene deletion in Egyptian Duchenne/Becker muscular dystrophy patients. (2007) (13)
- Clonal heterogeneity of thymic muscle-cell precursors (1984) (13)
- Localization of ingensin in rat central nervous system and skeletal muscle (1988) (13)
- Detection of DNA fragments encompassing the deletion junction of mitochondrial genome. (1996) (13)
- Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman (2005) (13)
- Dystrophin-related protein in skeletal muscles in neuromuscular disorders: immunohistochemical study (2004) (13)
- Two novel CAV3 gene mutations in Japanese families (2004) (13)
- Cerebral oxygen and glucose metabolism in glycogen storage disease with normal acid maltase: case report (1996) (13)
- Muscle fiber atrophy and degeneration induced by experimental immobility and hindlimb suspension. (1997) (13)
- A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI (2009) (13)
- Partial deficiency of dystrophin‐associated proteins in a young girl with sporadic myopathy and normal karyotype (1993) (12)
- Japanese quail and human acid maltase deficiency: A comparative study (1991) (12)
- Duchenne muscular dystrophy: Unusual activation of single fibers in vitro (1981) (12)
- Diagnosis of partial deficiency of the pyruvate dehydrogenase complex in biopsied muscle (1985) (12)
- Leigh encephalopathy: histologic and biochemical analyses of muscle biopsies. (1992) (12)
- Progression in nemaline myopathy (2004) (12)
- Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers (MERRF): a single-photon emission computed tomographic (SPECT) and electrophysiological study (1997) (12)
- Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy (1999) (12)
- Dietary phosphorus overload aggravates the phenotype of the dystrophin-deficient mdx mouse. (2014) (12)
- Muscle pathology in cytochrome c oxidase deficiency. (1988) (11)
- Variability in the activity of respiratory chain enzymes in mitochondrial myopathies (2004) (11)
- Expression of myoferlin in skeletal muscles of patients with dysferlinopathy. (2006) (11)
- Congenital myopathy without specific features (minimal change myopathy). (1983) (11)
- Skeletal muscle involvement in Escobar syndrome (1985) (11)
- Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy (2000) (11)
- Behavior of sarcotubular system formation in experimentally induced regeneration of muscle fibers (1984) (11)
- Effects of thymic myoid cell culture supernatant on cells from lymphatic tissues. (1985) (11)
- Cloning and mapping of a very short (10‐kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD) (1995) (11)
- Congenital hypomyelination neuropathy: decreased expression of the P2 protein in peripheral nerve with normal DNA sequence of the coding region (1995) (11)
- Degradation of connectin (titin) in Fukuyama type congenital muscular dystrophy: immunochemical study with monoclonal antibodies (1990) (11)
- Defects in muscle fiber growth in fatal infantile cytochrome c oxidase deficiency (1988) (10)
- Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification (2009) (10)
- Analysis of lymphoproliferative cytokines produced by thymic myoid cells. (1996) (10)
- Monomelic muscle atrophy (1993) (10)
- Oculopharyngeal muscular dystrophy associated with dementia. (2011) (10)
- A case of Walker–Warburg syndrome (2000) (10)
- Vacuolar myopathy with type 2 A fiber atrophy and type 2 B fiber deficiency. A case of childhood form acid alpha-1,4-glucosidase deficiency. (1982) (10)
- Chloroquine treated rat: A possible model for alzheimer's disease (1995) (10)
- Abnormal expression of integrin a7b1D in merosin deficient congenital muscular dystrophies (1997) (10)
- Congenital myotonic dystrophy can show congenital fiber type disproportion pathology (2010) (10)
- Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations (2011) (10)
- [Reducing body myopathy--a case report]. (1992) (10)
- [Muscle involvement of Stormorken's syndrome]. (2000) (9)
- 104th European Neuromuscular Centre (ENMC) International Workshop: Distal myopathies, 8–10th March 2002 in Naarden, The Netherlands (2002) (9)
- Muscle fiber type differentiation and satellite cell populations in normally grown and neonatally denervated muscles in the rat (2004) (9)
- Muscle pathology in cytochromec oxidase deficiency (2004) (9)
- Characterization of a macrophage lineage cell colony-stimulating factor produced by thymic myoid cells. (1993) (9)
- A comparative freeze‐fracture study of plasma membrane of dystrophic skeletal muscles in dy/dy mice with merosin (laminin 2) deficiency and mdx mice with dystrophin deficiency (1997) (9)
- Molecular pathomechanism of distal myopathy with rimmed vacuoles. (2005) (9)
- ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features (2020) (9)
- Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement (2019) (9)
- Immunological and biochemical characterization of biglycan-like haemopoietic factor. (1995) (9)
- Thiamine responsive congenital lactic acidemia and type 1 muscle fiber atrophy (1995) (9)
- Autosomal recessive distal muscular dystrophy: Normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers (1994) (9)
- Ultrastructural detection of DNA fragmentation in myonuclei of fatal reducing body myopathy (2004) (9)
- In vivo administration of a thiol protease inhibitor, E‐64‐C, to hereditary dystrophic chicken (1982) (9)
- Progressive cytochrome c oxidase deficiency in a case of Leigh's encephalomyelopathy (1990) (9)
- Isolated inflammatory myopathy with rimmed vacuoles presenting with dropped head (2009) (9)
- [A case of facioscapulohumeral muscular dystrophy with infantile spasms, sensorineural deafness and retinal vessel abnormality]. (1991) (9)
- 1-[11C]Pyruvate turnover in brain and muscle of patients with mitochondrial encephalomyopathy A study with positron emission tomography (PET) (1990) (9)
- Reducing bodies in distal myopathy with rimmed vacuole formation (2004) (9)
- Infantile polymyositis: A case report (1992) (8)
- Regenerative capability of skeletal muscle in chicken muscular dystrophy (1984) (8)
- Muscle fiber immaturity and inactivity reduce myonecrosis in duchenne muscular dystrophy (1998) (8)
- Deficiency of subunits of complex I or IV in mitochondrial myopathies: Immunochemical and immunohistochemical study (1987) (8)
- G.O.1 Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels (2014) (8)
- Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome and NADH-CoQ reductase deficiency (1986) (8)
- Developmental expression of dystrophin on the plasma membrane of rat muscle cells (1989) (8)
- A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties (2017) (8)
- Involvement of the Onuf nucleus in Werdnig‐Hoffmann disease (1982) (8)
- Leber's hereditary optic neuropathy with intracranial arteriovenous malformation: a case report. (2002) (8)
- [Clinical and pathological studies on two patients with adult-onset nemaline myopathy]. (1990) (8)
- Fatal cerebral hemorrhage in mitochondrial encephalomyopathy. Clinical and pathological data of a case. (2006) (8)
- [Adult form of acid maltase deficiency presenting with pattern of muscle weakness resembling facioscapulohumeral dystrophy]. (2001) (7)
- Dystrophin-positive muscle fibers following C2 myoblast transplantation into mdx nude mice (2004) (7)
- Severe Central Nervous System Involvement in a Patient With Congenital Fiber-Type Disproportion Myopathy (1996) (7)
- High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation (2010) (7)
- Arthrogryposis multiplex congenita: histochemical study of biopsied muscles. (1985) (7)
- [Myositis and rhabdomyolysis with influenza infection]. (2000) (7)
- Distal myopathies. (1999) (7)
- Complete external ophthalmoplegia in a patient with congenital myopathy without specific features (minimal change myopathy) (1990) (7)
- Mitochondrial encephalomyopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy. (2008) (7)
- “All‐or‐none” cytochrome C oxidase positivity in mitochondria in chronic progressive external ophthalmoplegia: An ultrastructural—cytochemical study (1993) (7)
- Preservation of branchimotor neurons of the nucleus ambiguus in multiple system atrophy (2003) (7)
- Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy (2018) (7)
- Tau protein immunoreactivity in muscle fibers with rimmed vacuoles differs from that in regenerating muscle fibers (2004) (7)
- [Muscle pathologic diagnosis--mechanism in muscle fiber degeneration]. (1994) (7)
- Mitogenic heparin-binding lectin-like protein from cloned thymic myoid cells. (1986) (7)
- Muscular abnormalities in experimental hypothyroidism of rats with special reference to the mounding phenomenon (1984) (7)
- Muscle involvement in pyruvate dehydrogenase complex (PDHC) deficiency (1987) (7)
- Myotonia congenita with painful muscle cramps. (1996) (6)
- [A case of glycogen storage disease with normal acid maltase accompanied with the abnormal platelet function]. (1994) (6)
- Marked left ventricular hypertrophy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. (2008) (6)
- Different ketogenic response to medium-chain triglycerides and to long-chain triglycerides in a case of muscular carnitine palmitoyltransferase deficiency (1982) (6)
- A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. (2007) (6)
- Recurrent Muscle Weakness and Ataxia in Thiamine-Responsive Pyruvate Dehydrogenase Complex Deficiency (1997) (6)
- Electroencephalographic studies of Minamata disease in children. (1968) (6)
- [A patient with lysosomal glycogen storage disease with normal acid maltase]. (1993) (6)
- Fatal cerebral hemorrhage in mitochondrial encephalomyopathy (2006) (6)
- Walker–Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy (2000) (6)
- [Approach for a final diagnosis of mitochondrial disease]. (2002) (6)
- Muscular dystrophy associated with extra-abdominal desmoid tumor showing aberrant chromosome 1 [46,XX,add(1)(p36)]. (1998) (6)
- Congenital monomelic neurogenic disorder with calf muscle hypertrophy (2003) (6)
- Nebulin is normally expressed in nemaline myopathy (1999) (6)
- Intracytoplasmic vacuoles in αW fibers of dystrophic chicken muscle —Probable early pathologic event initiates massive fiber necrosis (2004) (6)
- Early onset muscular dystrophy with autosomal dominant heredity Report of a family and CT findings of skeletal muscle (1994) (6)
- Congenital familial myopathy with type 2 fiber hypoplasia and type 1 fiber predominance (1997) (6)
- A histochemical study of the biceps brachii muscle cross-innervated by intercostal nerves. 6 cases of brachial plexus injuries operated with nerve-crossing. (1994) (6)
- Gel electrophoretic study of nemaline muscle. (1981) (6)
- Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId (2001) (6)
- Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy. (1995) (6)
- Localization of calcium‐activated neutral protease (CANP) in the peripheral nerve (1985) (6)
- α‐Glucosidase isoenzymes in normal and acid maltase‐deficient human skeletal muscles (1988) (6)
- Early onset distal muscular dystrophy with normal dysferlin expression (2005) (6)
- Motor neuron loss in a patient with spinocerebellar ataxia type 6: chance co-occurrence or causally related? (2000) (6)
- [Strongly succinate dehydrogenase-reactive blood vessels (SSV) in various neuromuscular diseases]. (1992) (5)
- [Lysosomal glycogen storage disease with normal acid maltase (Danon) without apparent cardiomyopathy and mental retardation]. (2000) (5)
- Co‐existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy (2002) (5)
- P5.54 Novel BAG3 mutations in myofibrillar myopathy patients (2011) (5)
- Idiopathic lactic acidemia with developmental delay and type 1 muscle fiber atrophy: report of two patients (1993) (5)
- Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania (2020) (5)
- Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome (2016) (5)
- [Significance of rimmed vacuoles in neuromuscular disorders--a comparative immunohistochemical study of inclusion body myositis and distal myopathy with rimmed vacuole formation]. (1994) (5)
- [A case of myopathy with ulcerative colitis]. (1990) (5)
- [Carnitine palmitoyltransferase deficiency in a patient with severe psychomotor retardation]. (1991) (5)
- [Vascular pathology in chronic progressive external ophthalmoplegia with ragged-red fibers]. (1992) (5)
- Muscle mitochondrial changes by experimental immobility and hindlimb suspension. (2000) (5)
- Severe infantile congenital myopathy with nemaline and cytoplasmic bodies: a case report (1998) (5)
- Duchenne muscular dystrophy with platypnea-orthodeoxia from Chilaiditi syndrome (2017) (5)
- Tissue-specific involvement of multiple mitochondrial DNA deletions in familial mitochondrial myopathy. (1998) (5)
- [Causes of death in Fukuyama congenital muscular dystrophy]. (1984) (5)
- Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. (1999) (5)
- Corrigendum: Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31–33 (1994) (5)
- Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD). (1995) (5)
- Neural BC1 RNA in mouse skeletal muscle is a denervation-induced RNA whose expression is developmentally regulated (1996) (5)
- MARINESCO‐SJOGREN SYNDROME: CAN THE DIAGNOSIS BE MADE PRIOR TO CATARACT FORMATION? (1997) (5)
- Distal myopathy in multi-minicore disease. (2009) (5)
- [Muscular dystrophy: advances in research works and therapeutic trials]. (2004) (4)
- Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fiber and Central Core Disease. (2020) (4)
- [A patient of late-onset nemaline myopathy with mononuclear cell infiltration]. (1994) (4)
- Clinical and pathologic aspects of congenital myopathies (2001) (4)
- Distal myopathy with rimmed vacuole formation (DMRV) (1997) (4)
- Two siblings with multiple intracranial haemangiomatosis with calcification (2004) (4)
- Infantile cytochrome c oxidase deficiency with neonatal death. (1989) (4)
- Expression of dystrophin on the cell surface membrane of intrafusal fibers of human skeletal muscle (1989) (4)
- [Histochemical study on muscle in Werdnig-Hoffmann disease (author's transl)]. (1978) (4)
- [Congenital neuromuscular disease with uniform type 1 fibers : a case report]. (1991) (4)
- Muscle plasma membrane changes in dystrophin gene exon 52 knockout mouse. (2001) (4)
- Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report (1996) (4)
- A case of congenital neuromuscular disease with uniform type 1 fibers (2006) (4)
- [A case of autoimmune polyglandular deficiency associated with progressive myopathy]. (1992) (4)
- QUANTITATIVE ANALYSIS OF DYSTROPHIN IN HUMAN AND RODENT MUSCLES (1992) (4)
- [Mitochondrial encephalomyopathy (focal cytochrome c oxidase deficiency) with transient episodes of muscle weakness and elevation of serum creatine kinase activity]. (1990) (4)
- P5.55 In vivo characterization of mutant myotilins (2011) (4)
- C.P.4.06 A novel myotilin mutation in exon 9: The first LGMD1A identified in Japan (2007) (4)
- [Anesthesia-induced rhabdomyolysis in a patient with Fukuyama-type congenital muscular dystrophy]. (1984) (4)
- [A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. (2000) (4)
- [An infantile case of nemaline myopathy with severe respiratory failure]. (1985) (4)
- Fatal infantile mitochondrial encephalomyopathy with complex I and IV deficiencies. (1993) (4)
- A case of intraneural perineurioma presenting with monomelic atrophy in a child (2010) (4)
- Isolation and characterization of a novel gene sfig in rat skeletal muscle up-regulated by spaceflight (STS-90). (2003) (4)
- MELAS, Myoclonus, Ataxia and Deficiencies of Complexes I and IV in Muscle Mitochondria (1987) (4)
- A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy (2018) (4)
- Impaired muscle fiber type differentiation in a child with nemaline myopathy. (1983) (4)
- [Hepatic involvement in a case of lysosomal glycogen storage disease with normal acid maltase]. (1999) (4)
- [MELAS without ragged-red fibers: a case report]. (1991) (4)
- A morphometric study of muscle mitochondria in cytochrome c oxidase deficiency (1988) (4)
- Myopathy with abnormal distribution of dystrophin, growth retardation, mental retardation, and hypospadia. (1993) (4)
- [A case of congenital myopathy with the pathologic transformation from fiber type disproportion to type 1 fiber predominance myopathy]. (1998) (3)
- 14-3-3 Proteins, particularly of the epsilon isoform, are detectable in cerebrospinal fluids of cerebellar diseases in children (2013) (3)
- Early onset distal muscular dystrophy (1995) (3)
- Ultrastructural changes in the cerebellum of young rats having received diphenylhydantoin during the embryonal stage. (1975) (3)
- Acid maltase deficiency in the Japanese quail; early morphological event in skeletal muscle (2004) (3)
- [Two sibling patients with non-Fukuyama type congenital muscular dystrophy with low serum selenium levels--therapeutic effects of oral selenium administration]. (2000) (3)
- [Muscle regeneration in mdx mouse, and a trial of normal myoblast transfer into regenerating dystrophic muscle]. (1990) (3)
- Unusual fatty infiltration of the soleus muscle in a patient with congenital nemaline myopathy: fat-suppression muscle MRI. (2002) (3)
- [Inclusion body myositis associated with chronic thyroiditis, Sjögren's syndrome and autoimmune cholangitis]. (2004) (3)
- Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy (2019) (3)
- Fiber-type-dependent expression of adenovirus-mediated transgene in mouse skeletal muscle fibers (1998) (3)
- High AMP deaminase activity in rimmed vacuoles of skeletal muscle (1986) (3)
- [Preliminary report: first identification of known mutation in the ryanodine receptor gene in a Japanese malignant hyperthermia pedigree]. (2000) (3)
- Progressive Muscular Dystrophy with Particular Reference to Muscle Regeneration (1991) (3)
- A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit (2006) (3)
- Recurrent respiratory failure in a patient with 3243 mutation in mitochondrial DNA (1995) (3)
- Histochemical Studies in Congenital Clubfeet (1994) (3)
- Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest (2011) (3)
- C.P.4.04 Zaspopathy with multiminicores (2007) (3)
- Semi-quantitative immunohistochemical studies on Thy-1 antigen expressed by thymic myoid cells (1988) (3)
- Mitochondrial diseases (2002) (3)
- [Clinical and pathological studies on nemaline myopathy in adulthood]. (1998) (3)
- Nondystrophinopathic muscular dystrophies including myotonic dystrophy. (1996) (3)
- [A patient with dermatomyositis and systemic sclerosis with preferential facioscapulohumeral muscle involvement and fatal cardiomyopathy]. (2001) (3)
- Immunochemical analysis of α-actinin of nemaline myopathy after two-dimensional electrophoresis (1989) (3)
- Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy: Two sibling cases (2010) (2)
- [Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation]. (2013) (2)
- [Mitochondrial encephalomyopathies: 3243 mutation as a central matter]. (1995) (2)
- [Ergometric and pathologic study of a family with complex I deficiency]. (1992) (2)
- Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy (2022) (2)
- Case report Myophosphorylase deficiency and limb‐girdle muscular dystrophy in the same pedigree (1998) (2)
- Cytochrome c oxidase deficiency with acute onset and rapid recovery. (1990) (2)
- Astrocyte growth enhanced by culture supernatant of a cloned rat thymic myoid cell (1985) (2)
- Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses. (1995) (2)
- Negative result in search for human alpha‐dystrobrevin deficiency (2003) (2)
- G.P.15.02 Autophagic degradation of nuclear component in nuclear envelopathy (2009) (2)
- X Chromosome-Linked Muscular Dystrophy (mdx) of the Skeletal Muscle, Mouse (1991) (2)
- Dependence of normal development of skeletal muscle in neonatal rats on load bearing. (2000) (2)
- No association of ALDH2 genotype in MELAS (1997) (2)
- Intranuclear rods myopathy with autonomic dysfunction (2013) (2)
- [Dystrophin-related protein in diaphragm, limb and myoblast transferred muscles of mdx mouse]. (1994) (2)
- [Two cases of subclinical myopathy. Is it a trait for malignant hyperthermia? (author's transl)]. (1980) (2)
- [A case with MELAS associated with epilepsia partialis continua]. (1991) (2)
- Mitochondria DNA mutations induce variable clinical symptoms including "stroke" in younger and aged persons. (1996) (2)
- Distal myopathy with rimmed vacuoles in a case of opercular syndrome (2006) (2)
- G.P.68 The utility of anti-cN1A autoantibody for the diagnosis of sporadic inclusion body myositis (2014) (2)
- [Merosin-positive congenital muscular dystrophy with early orthopaedic problems in relation to Ullrich's disease]. (2003) (2)
- [Non-Fukuyama type merosin-positive congenital muscular dystrophy with delayed muscle fiber type differentiation: a case report]. (1995) (2)
- [Dropped head plus syndrome; a case report]. (2003) (2)
- A case of congenital axonal neuropathy associated with West syndrome (2011) (2)
- G.P.288 Dysferlinopathy in Egypt: Clinical, Pathological and Genetic characteristics (2014) (2)
- [Two cases of mitochondrial myopathy (focal cytochrome c oxidase deficiency), long-term follow-up on a diagnosis of ocular type myasthenia gravis]. (1989) (2)
- A.P.8 Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure (HMERF) (2014) (2)
- MTMI gene mutations in Japanese patients with X-linked myotubular myopathy (1997) (2)
- NEUROPATHOLOGIC REAPPRAISAL OF WERDNIG-HOFFHANN DISEASE: 22 (1976) (2)
- Lobulated fibers in a patient with 46‐year history of limb‐girdle muscle weakness (2011) (2)
- [Overloading to neck extensor muscles is an aggravating factor to induce further neck drop in isolated neck extensor myopathy (Katz). A case report]. (2000) (2)
- P4.46 Expression of human GNE through adeno-associated virus mediated therapy delays progression of myopathy in the DMRV/hIBM mouse model (2011) (2)
- Immunohistochemical localization of AMP deaminase in rimmed vacuoles in human skeletal muscle (1987) (2)
- [Pathophysiology in muscle fiber necrosis and regeneration with a particular reference to regenerating process]. (1998) (2)
- Mitochondrial encephalomyopathies and cytochrome c oxidase deficiency: muscle culture study (2004) (2)
- [A patient of infantile polymyositis triggered by respiratory syncytium virus infection]. (2000) (2)
- Effects of chronic hindlimb suspension on landing performance in response to head-down drop in rats. (2002) (2)
- [The parents' assessment and needs for home mechanical ventilation in patients with pediatric neurological disorders]. (2003) (2)
- Multiplicity of abnormal dystrophin in Becker muscular dystrophy A Becker muscular dystrophy gene frequently produced two smaller sizes of dystrophin (1994) (2)
- Siblings of Schwartz-Jampel Syndrome with abnormal muscle computed tomographic findings (2000) (2)
- [An autopsy case of lung cancer in a young adult dwarf]. (1986) (2)
- Internodal Schwann cell fingers in the ventral spinal roots in mice: Incidence and relationship to the diameter of myelinated fibers (1988) (2)
- [A case of motor sensory neuropathy associated with mental retardation, conductive deafness and cerebellar signs]. (1985) (1)
- SHAKING RAT KAWASAKI (SRK): A NEW NEUROLOGICAL MUTANT IN THE WISTAR RAT 92 (1987) (1)
- P.3.6 Antioxidant capacity is impaired in hyposialylated myotubes of GNE myopathy (2013) (1)
- Delayed gyration with pontocerebellar hypoplasia type 1 (2010) (1)
- [Muscle fiber atrophy]. (2012) (1)
- Therapeutic trial with protease inhibitor (Leupeptin) in chicken muscular dystrophy (1982) (1)
- G.P.27 Muscle atrophy in the GNE myopathy mouse model is associated with oxidative stress (2012) (1)
- P2.27 Accumulation of poly-ubiqutinated protein and beta-amyloid is associated with rimmed vacuoles in Becker muscular dystrophy (2010) (1)
- [A patient of Walker-Warburg syndrome with a haplotype different from that in Fukuyama-type congenital muscular dystrophy]. (1999) (1)
- [Muscle pathology in mitochondrial myopathy]. (1987) (1)
- T.O.1 Sialic acid metabolites preclude the development of myopathic phenotype in the DMRV/hIBM mouse model (2009) (1)
- 759 Nonneural tau : Transient upregulation and subsequent accumulation of big and small tau in chloroquine myopathy (1996) (1)
- In vitro activation of the pyruvate dehydrogenase complex in human muscle by a broad specificity protein phosphatase (1984) (1)
- [X-linked recessive myotubular myopathy with a splice-site mutation in the myotubularin gene]. (1998) (1)
- A Dystrophin Homologue on the Surface Membrane of Embryonic and Denervated mdx Mouse Muscle Fibers. (1991) (1)
- Immunochemical analysis of alpha-actinin of nemaline myopathy after two-dimensional electrophoresis. (1989) (1)
- [Congenital nemaline myopathy with mitochondrial abnormalities. An adult case report]. (2000) (1)
- [A case of rigid spine syndrome--histological findings of muscles]. (1993) (1)
- Myopathy, Unique Clinical Features, and Brain Malformations Mimicking Fukuyama Congenital Muscular Dystrophy: A Case Report (1993) (1)
- Letters to the editor (1983) (1)
- [Two cases with quadriceps myopathy of juvenile onset (author's transl)]. (1981) (1)
- [Muscle fiber involvement in Lowe syndrome]. (1994) (1)
- [Peripheral nerve involvement in congenital metabolic disorders (author's transl)]. (1979) (1)
- [De Sanctis-Cacchione syndrome: a report of a case and a review of the literature (author's transl)]. (1981) (1)
- [A case of progressive myopathy with tubular aggregates]. (1989) (1)
- [Recent advances in limb-girdle muscular dystrophy research]. (2001) (1)
- McArdle Disease: Familial Variety of Muscle Phosphorylase Activity in Two Siblings (1984) (1)
- Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia (1989) (1)
- Muscle involvement in a case of oculocutaneous albinism. (1986) (1)
- G.P.5.03 Genotype–phenotype correlation of DMRV/hIBM patient in Japan (2009) (1)
- Staining of the Nemaline Rods by Fluorescent Antibody against Z-protein (1983) (1)
- [Electron microscopic study of mitochondrial diseases]. (2002) (1)
- [A female infant of mitochondrial myopathy with findings of active necrosis and regeneration of muscle fibers]. (1990) (1)
- [MELAS-like episodes in an adult case with cytochrome c oxidase deficiency]. (2004) (1)
- Severe infantile myotubular myopathy with complete atrioventricular block (2008) (1)
- Fatal lipid storage disorder (1984) (1)
- [The significance of cytoplasmic body in neuromuscular diseases]. (1993) (1)
- [A syndrome presenting short stature, mental retardation, decreased adipose tissue, myopathy and chimpanzee-like face (author's transl)]. (1981) (1)
- G.P.155 A first Asian MEGF10 myopathy due to novel homozygous mutation (2014) (1)
- Changes of subcellular localization of Thy-1 antigen during thymic myoid cell differentiation (1989) (1)
- [Mitochondria myopathy]. (1985) (1)
- [Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with delayed and decreased cerebral blood flow on cerebral angiography--a case report]. (1994) (1)
- [A case of complex I deficiency with episodic respiratory distress]. (1990) (1)
- [Relationship between doctors and patients]. (2003) (1)
- Congenital muscular dystrophy with severe infantile scoliosis (1985) (1)
- Cardiac muscle involvement in muscle disorders. (1999) (1)
- Adult form acid maltase deficiency -- a case report. (1982) (1)
- Insertion near the mitochondrial tyrosine tRNA gene in patients with mitochondrial diseases (1994) (1)
- EXPERIMENTAL COMMUNICATING HYDROCEPHALUS INDUCED BY ANTITUBULIN COMPOUNDS IN SUCKLING RATS: 18 (1976) (1)
- [Ultrastructural immunocytochemical localization of electron-transport enzymes in mitochondrial myopathy]. (1989) (1)
- [Scoliosis and malignant hyperthermia]. (1984) (1)
- P.P.3.07 Distal myopathies in Thailand (2006) (1)
- P.73 Comprehensive genome analysis of Japanese patients with myofibrillar myopathy (2017) (1)
- Congenital focal muscle dysplasia in the lower extremities from probable abnormal innervation: A case report (1992) (1)
- A case of Werdnig‐Hoffmann disease showing extensive sensory involvement after prolonged mechanical ventilation (1997) (1)
- CHLOROQUINE MYOPATHY IN RAT SOLEUS MUSCLE: AN EXPERIMENTAL MODEL FOR HUMAN DISTAL MYOPATHY WITH RIMMED VACUOLES (1986) (1)
- Congenital contracture of the quadriceps femoris muscle. A type of monomuscular involvement of neuropathic arthrogryposis (1988) (1)
- [Severe type arthrogryposis multiplex congenita with pseudohypoaldosteronism]. (1987) (1)
- Heterozogosity of Autosomal Recessive Fukuyama Congenital Muscular Dystrophy Possible Influences on the Expression of X Chromosome-Linked Dystrophin Abnormalities (0)
- [Recent advances in congenital muscular dystrophy research]. (2005) (0)
- [The significance of Ulex europaeus agglutinin I lectin binding fibers in various muscular diseases]. (1998) (0)
- Lysosomal cysteine proteinases (cathepsins B.H. and L) and the endogenous inhibitors (Cystatins a and b) in the skeletal muscles in various neuromuscular diseases (1994) (0)
- P.449 Muscle growth by activin type II receptor blocking ameliorates weakness in GNE myopathy mice (2017) (0)
- [Histochemical examination of mitochondrial diseases]. (2002) (0)
- P2.24 A case of X-linked myopathy with excessive autophagy: the first case in Japan (2010) (0)
- G.P.55 Evaluation of pathogenicity of a novel BAG3 mutation by using transgenic medaka (2012) (0)
- A new form of muscular dystrophy with mitochondrial structural abnormalities (2001) (0)
- P2.20 In vivo electroporation is an effective method to reproduce pathological changes in myofibrillar myopathy (2010) (0)
- [Muscular dystrophy: recent progress]. (2000) (0)
- Symptoms and complaints of the patients with dm1 at the early stage (2013) (0)
- A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy (2018) (0)
- [Cousins with X-linked recessive myotubular myopathy]. (1997) (0)
- Demonstration of acid maltase protein in Pompe disease by use of immunohistochemical and enzyme immunoassay methods (1983) (0)
- O.8 Treatment of hyposialylation in mouse model of DMRV/hIBM with novel synthetic sugar compounds (2010) (0)
- O23-2 - A Miserable Phenotype of Hypertrophic Cardiomyopathy Carrying a Novel Homozygous Missense Mutation of Desmin Gene (2017) (0)
- Biallelic mutations in MYPN cause childhood-onset, slowly progressive nemaline myopathy (2017) (0)
- G.P.9.05 Pathomechanism of SIL1 mutated Marinesco-Sjögren syndrome (2008) (0)
- The program of the kinki child neurology meeting, Osaka (1989) (0)
- Patients with Myophosphorylase Deficiency (McArdle Disease) (2007) (0)
- G.P.12.09 Actin myopathy with myofibrillar dysgenesis and abnormal ossification (2009) (0)
- GNE Myopathy (Hereditary Inclusion‐Body Myopathy/Distal Myopathy with Rimmed Vacuoles): Clinical Features and Epidemiology (2011) (0)
- O.11 A novel congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis (2010) (0)
- WS-14-2 Intramuscular nerve pathology in congenital nonprogressive myopathies (1995) (0)
- Schedule of meetings (1984) (0)
- A case with mitochondrial disease associated with severe left ventricular dysfunction (1998) (0)
- G.P.124 Fiber type disproportion caused by LMNA mutations (2012) (0)
- P4.07 Cardiac involvement in Egyptian Duchenne and Becker muscular dystrophy carriers (2010) (0)
- REGISTRIES, CARE, QUALITY OF LIFE, MANAGEMENT OF NMD P.346 Child-to-adult healthcare transition for inherited muscle diseases: a single-center study in suburbs of Tokyo, Japan (2020) (0)
- [A sporadic case of Charcot-Marie-Tooth disease type 1 A associated with a duplication in chromosome 17 p11.2-p12]. (1999) (0)
- Caveolin-3 and dystrophin in skeletal muscle cells (1997) (0)
- O.8 Characterization of Japanese patients with myofibrillar myopathy (2011) (0)
- Actin and nemaline-related myopathy (2000) (0)
- P.274 Clinical, muscle pathology and genetic features of GNE myopathy patients in Egypt: Case report (2016) (0)
- D.P.1.05 D4Z4 repeat number and skeletal muscle changes in FSHD (2008) (0)
- CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations (2020) (0)
- G.P.14.14 Novel FHL1 mutations in fatal and benign reducing body myopathy (2008) (0)
- The clinical and histopathological spectrum of limb girdle syndrome in Egypt (1997) (0)
- [Child neurology--future prospect. Interview by Toshiaki Abe]. (2000) (0)
- G.P.275 POMGNT2 mutations are associated with milder forms of limb girdle muscular dystrophy (2015) (0)
- G.P.127 A nation-wide survey for Marinesco-Sjögren syndrome (2012) (0)
- Intra-myonuclear inclusions are diagnostic of oculopharyngeal muscular dystrophy (2022) (0)
- [Two cases of benign myopathy; so-called congenital muscular dystrophy, in two female patients]. (1984) (0)
- M.P.4.14 Clinicopathological features of Japanese patients with PNPLA2 gene mutation (2007) (0)
- G.P.2 04 A GNE knockout mouse expressing human V572L mutation develops features similar to Nonaka myopathy or distal myopathy with rimmed vacuoles (DMRV) (2006) (0)
- [Congenital myopathy without specific muscle pathologic features. Case report]. (1986) (0)
- The Importance of Fresh Purposes (0)
- G.P.11 Characteristic skeletal muscle imaging patterns in Japanese patients with Pompe disease (2015) (0)
- [Fatal infantile form of complex IV (cytochrome c oxidase) deficiency]. (2002) (0)
- P2.62 Expanding clinicopathological findings observed in the Asian patients with VCP mutation (2011) (0)
- P.385 Genotype–phenotype correlation in VLCAD deficiency (2016) (0)
- [Benign infantile form of complex IV deficiency]. (2002) (0)
- Clinical/scientific Notes Novel Fhl1 Mutations in Fatal and Be- Nign Reducing Body Myopathy (0)
- Laminin oc2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy (2011) (0)
- METABOLIC DISTURBANCES IN NEUROMUSCULAR DISEASES O.1Bi-allelic mutations in COX6A2 cause a striated muscle-specific cytochrome c oxidase deficiency (2019) (0)
- [Exchange program with Asian and Oceanian researchers]. (2001) (0)
- Spinal cord, peripheral nerves & neuromuscular junction (1987) (0)
- P2.07 Dual observation of single myofibers provide clue on dynamics of protein accumulation in distal myopathy with rimmed vacuoles (DMRV)-hereditary inclusion body myopathy (hIBM) mouse model (2010) (0)
- Space life sciences: biological research and space radiation. Proceedings of the F1.2, F1.3, F2.2 and F2.6 Symposia of COSPAR Scientific Commission F which were held during the Thirty-third COSPAR Scientific Assembly, Warsaw, Poland, July, 2000. (2002) (0)
- P2.52 High nonspecific esterase activity may be a good marker for vascular involvement in inflammatory myopathies (2010) (0)
- G.P.1.09 Nuclear changes in skeletal muscles of AD-EDMD/LGMD1B (2008) (0)
- AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE P.14 Autophagic vacuolar myopathy with autophagic vacuoles with sarcolemmal features (AVSF myopathy) including Danon disease and XMEA: A new clinical entity (2020) (0)
- Benign infantile neurogenic muscle atrophy predominantly involving the upper extremities (2006) (0)
- P1.05 Cardiomyopathy form of α-dystroglycanopathy caused by FKTN mutation in Japan (2010) (0)
- [Successful treatment of recurrent hypoglycemia by pioglitazone in a patient with myotonic dystrophy]. (2009) (0)
- C.P.3.16 Rimmed vacuoles in children: Highly specific indication for SIL1 mutation in Marinesco-Sjögren syndrome (2007) (0)
- Asymmetric skeletal muscle involvement in facioscapulohumeral muscular dystrophy: A neuroimaging study (2017) (0)
- [A patient with distal muscular dystrophy without mutations in dysferlin gene but with abnormal dysferlin localization in muscle fibers]. (2004) (0)
- Investigating the pathogenesis of ACTA1-related congenital fibre type disproportion (2006) (0)
- CONGENITAL MYOPATHIES 2 P.103 Congenital neuromuscular disease with uniform type 1 fibers due to RYR1 mutation is a de facto core myopathy (2020) (0)
- P.15.1 Evaluation of pathogenicity of a novel BAG3 mutation by using transgenic medaka (2013) (0)
- Case Report Familial reducing body myopathy (2007) (0)
- Animal Experiments: A View from Muscular Dystrophy Research (2002) (0)
- G.P.8.04 Vascular glycogen storage in Pompe disease demonstrated by epon-embedded muscle section (2009) (0)
- [Familial chronic progressive external ophthalmoplegia syndrome with hypertrichosis and bilateral striatal necrosis]. (1988) (0)
- Caveolin-3 in skeletal muscle fibres of Duchenne muscular dystrophy and mdx mouse (1997) (0)
- [Clinical aspects of progressive muscular dystrophies]. (1990) (0)
- Myoglobinopathy affecting facial and oropharyngeal muscles (2022) (0)
- [Molecular genetic diagnosis of muscle diseases]. (1999) (0)
- P3.62 Longitudinal study of skeletal muscle images in childhood-onset Pompe disease patients receiving enzyme replacement therapy (ERT) (2011) (0)
- WS-14-1 Deficiency of laminin α2 chain in muscle and nerve tissues and muscular dystrophy (1995) (0)
- G.P.11.08 Cytoplasmic body with acid phosphatase activity – Hallmark of adult-onset Pompe disease on muscle pathology (2008) (0)
- MELAS mutation inmtDNAbinding site fortranscription termination factor causes defects inprotein synthesis and inrespiration butnochangeinlevels ofupstream anddownstream maturetranscripts (1992) (0)
- [Mammalian mtDNA mutations and related disorders: overview]. (2005) (0)
- [A case of congenital hypomyelination neuropathy with type I Chiari malformation and mental retardation]. (1997) (0)
- [An atypical form of juvenile myasthenia gravis associated with severe emaciation, muscle atrophy, ophthalmoplegia, bulbar signs and joint contracture]. (1987) (0)
- G.P.8.02 High density on skeletal muscle CT imaging indicates accumulation of calcium in autophagic vacuoles in childhood-onset Pompe disease (2009) (0)
- G.P.39 DNAJB6 myopathy in Japanese cohort (2012) (0)
- M.P.4.10 Muscle pathological analysis for autophagic/lysosomal and endosomal pathways in Danon disease (2007) (0)
- MYOFIBRILLAR AND AUTOPHAGIC MYOPATHIES P.76Clinical features of X-linked myopathy with excessive autophagy (XMEA) in Japan: a nationwide survey (2019) (0)
- G.P.105 Main symptoms at onset and chief complaints at the first visit to clinic of myotonic dystrophy (2012) (0)
- Metabolic and other muscle disorders (1984) (0)
- 73 6-AMINO-NICOTTNAMIDE(6-AN) INDUCED HYDROCEPHALUS IN THE SUCKLING MICE (1983) (0)
- P.199 Signal abnormalities of muscle and fascia in muscular MRI imaging at pretreatment stage in children with juvenile dermatomyositis (2016) (0)
- P2.21 Filamin C is required for the maintenance of sarcomere structure in medaka (2010) (0)
- P1.46 Genetic, clinical, and pathological features of congenital fiber type disproportion in Japan (2010) (0)
- [Familial chronic progressive blepharoptosis without other neurological symptoms: a new clinical entity?]. (2002) (0)
- [PET findings after stroke in MELAS]. (1991) (0)
- G.P.13.12 Congenital myotonic dystrophy and myotubular myopathy may be differentiated by type 2C fibers and peripheral halos (2008) (0)
- Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy (2018) (0)
- O.10 TMEM43 mutations in Emery–Dreifuss muscular dystrophy-like patients cause dysfunctions of a nuclear membrane protein, LUMA (2010) (0)
- G.P.274 DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan (2015) (0)
- [Muscular dystrophy in a girl with an X-autosome translocation]. (1986) (0)
- G.P.50 A nationwide survey of autophagic vacuolar myopathies characterized by autophagic vacuoles with sarcolemmal features (AVSF) in Japan (2012) (0)
- G.P.13.06 Distal myopathy in multi-minicore disease (2008) (0)
- C.P.4 Congenital fiber type disproportion with myofibrillar disorganization and altered internal nuclei is caused by RYR1 mutation (2012) (0)
- G.P.6.03 Dysferlinopathy in Egypt: Clinical and pathological characteristics (2009) (0)
- G.P.60 Mutations in iron–sulfur cluster assembly gene IBA57 cause progressive cavitating leukoencephalopathy (2015) (0)
- G.O.2 A clinical and pathological study of congenital fibre type disproportion (2006) (0)
- The importance of fresh frozen section in muscle biopsy for diagnostic purposes (1997) (0)
- synthetic sugar molecule , efficiently rescues the muscle phenotype and biochemical defects in a mouse model of sialic acid deficient myopathy May (2011) (0)
- P2.57 First dysferlinopathy patients in Egypt: Clinical, pathological and genetic characteristics (2011) (0)
- [An autopsy case of congenital myotonic dystrophy in an adult]. (1986) (0)
- G.P.5.07 Nuclear changes in muscular dystrophy associated with nuclear envelopathy (2007) (0)
- musclegravity-dependent development of rat soleus (2016) (0)
- G.P.5.05 The evaluation of N-acetylmannosamine in model mouse towards the development of therapeutic strategy in DMRV/hIBM (2009) (0)
- Gravitational Loading Stimulates Adhesion of Satellite Cells and Myonuclear Accretion During Fiber Growth in Rat Soleus Muscle (2008) (0)
- P.344Assessment of longitudinal developmental milestones in Fukuyama congenital muscular dystrophy (2019) (0)
- Frozen Section in Muscle Biopsy for Diagnostic (1997) (0)
- P4.63 MELAS presenting marked brain atrophy and hypertrophic cardiomyopathy: report of an autopsy case (2010) (0)
- CONGENITAL MUSCULAR DYSTROPHIES EP.64 Brain image phenotypes and developmental milestones in Fukuyama congenital muscular dystrophy (2021) (0)
- P.363 Clinicopathological features and management of Danon disease in Japan: a nationwide survey (2017) (0)
- G.P.12.08 Clinico-pathological characteristics of the Becker muscular dystrophy with rimmed vacuole (2008) (0)
- A Case of Ullrich Syndrome with Congenital Fiber Type Dysproportion (1982) (0)
- P4.51 Effects of enzyme replacement therapy in five patients with advanced late-onset glycogen storage disease type 2: a 2-year follow-up study (2010) (0)
- G.P.59 Gene mutation screening using whole exome sequencing in lipid storage myopathy (2015) (0)
- [Molecular pathology of muscle diseases]. (1997) (0)
- Facioscapulohumeral Type of Neurogenic Muscular Atrophy Manifested in the Early Childhood (1981) (0)
- [Staircase phenomenon in "mitochodrial myopathy' and limb-girdle type muscular dystrophy]. (1982) (0)
- New therapeutic trial for mitochondrial encephalomyopathies with combination of cytochrome C and vitamins B1 and B2 (1994) (0)
- Case report Intranuclear rods myopathy with autonomic dysfunction (2012) (0)
- Clinical and pathologic aspects of congenitalmyopathies (2003) (0)
- G.P.76 Juvenile dermatomyositis involving large muscle infarction in three cases (2014) (0)
- Cerebellar Changes of Young Rats Having Received Diphenyl hydantoin during the Embryonal Stage:An electron microscopical study (1974) (0)
- G.P.5.04 Ultrastructural evidence of amyloidogenesis: An upstream event to myofiber degeneration in a mouse model of DMRV/hIBM (2009) (0)
- D.P.3.06 Amyloidogenesis in a mouse model of DMRV/hIBM (2008) (0)
- P1.30 Late-onset limb girdle muscular dystrophy type 2D (LGMD2D) (2010) (0)
- [Therapeutic strategies for muscular dystrophy: F based on the international guideline]. (2014) (0)
- P.9.4 Mutation screening of a large cohort of nemaline myopathy (2013) (0)
- [Gene expression in skeletal muscle of spaceflight rat]. (2001) (0)
- G.P.15.01 Inflammatory myopathy in early childhood is frequently associated with LMNA mutations (2009) (0)
- T.P.9 Sialyllactose reversed myopathic phenotype in symptomatic GNE myopathy model mice (2012) (0)
- P.67 Integrated genome analysis of COX deficiency in Japan (2017) (0)
- EM.P.2.07 Frequency of fukutinopathy in Japanese cardiomyopathy patients with myopathy (2009) (0)
- Case report Delayed gyration with pontocerebellar hypoplasia type 1 (2010) (0)
- High frequency of epilepsy and mental retardation in early onset 4q35-facioscapulohumeral muscular dystrophy with huge deletion of KpnI repeats (1997) (0)
- G.P.4.08 Three kinds of model mice for nuclear envelopathy (2006) (0)
- G.O.6 New variant of myofibrillar myopathy with CNS involvement (2009) (0)
- Clinical features and management of danon disease in Japan: A nationwide survey (2017) (0)
- G.P.3.11 Novel ETFDH mutations and normal CoQ10 level in Taiwanese patients with multiple acyl-CoA dehydrogenase deficiency (2008) (0)
- High Density of Skeletal Muscle CT Imaging Indicates Excess Calcium Accumulation in Autophagic Vacuoles in Childhood-Onset Pompe Disease (2011) (0)
- [Case report of neuronal ceroid lipofuscinosis: muscle biopsy and TRH treatment]. (1990) (0)
- G.P.13.08 Dystrophin gene analysis for identification of DMD/BMD carrier status in Egyptian symptomatic and asymptomatic females (2009) (0)
- Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy (2017) (0)
- Contractures in Emery-Dreifuss Syndrome (1999) (0)
- P.1.1 Natural history of Ullrich congenital muscular dystrophy (2013) (0)
- Downstream Mature Transcripts Defects in Protein Synthesis and in Respiration but no Change in Levels of Upstream and MELAS Mutation in mtDNA Binding Site for Transcription Termination Factor Causes G (0)
- Autosomal dominant late-onset quadriceps myopathy: three patients of a Taiwanese kindred. (2011) (0)
- G.P.81 A clinical point of view diagnosing juvenile idiopathic inflammatory myopathies without skin manifestations (2014) (0)
- T.P.12 Dietary phosphate intake and exercise-induced stress induce severe muscle necrosis in adult mdx mice (2012) (0)
- G.P.14.04 Congenital myotonic dystrophy in patients diagnosed as congenital fiber type disproporion (2009) (0)
- Selective deficiency of &agr;-dystroglycan in Fukuyama-type congenital muscular dystrophy (2001) (0)
- [Non-Fukuyama type congenital muscular dystrophy--merosin deficient and positive forms]. (1997) (0)
- G.P.16.03 Aggregation of TDP-43 in patients of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy (2009) (0)
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What Schools Are Affiliated With Ikuya Nonaka?
Ikuya Nonaka is affiliated with the following schools:
