Anders Oldfors
#155,711
Most Influential Person Now
Researcher
Anders Oldfors's AcademicInfluence.com Rankings
Anders Oldforsbiology Degrees
Biology
#11985
World Rank
#15430
Historical Rank
Cell Biology
#620
World Rank
#633
Historical Rank
Genetics
#1307
World Rank
#1409
Historical Rank
Molecular Biology
#1898
World Rank
#1929
Historical Rank
Download Badge
Biology
Why Is Anders Oldfors Influential?
(Suggest an Edit or Addition)Anders Oldfors's Published Works
Number of citations in a given year to any of this author's works
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
- Premature ageing in mice expressing defective mitochondrial DNA polymerase (2004) (2426)
- Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in mice (1998) (1479)
- Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study (2004) (540)
- Impaired insulin secretion and β-cell loss in tissue-specific knockout mice with mitochondrial diabetes (2000) (432)
- Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression (1999) (432)
- Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy (2007) (349)
- The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities (2001) (328)
- Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome (1990) (306)
- Increased mitochondrial mass in mitochondrial myopathy mice (2002) (278)
- ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. (2007) (274)
- Rett syndrome: 3‐D confocal microscopy of cortical pyramidal dendrites and afferents (1994) (236)
- Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion. (1994) (235)
- Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings. (2003) (211)
- Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function (2002) (192)
- Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. (1992) (175)
- Leber's hereditary optic neuropathy and complex I deficiency in muscle (1991) (164)
- Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. (2011) (157)
- A single mouse gene encodes the mitochondrial transcription factor A and a testis–specific nuclear HMG-box protein (1996) (148)
- Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene. (2000) (147)
- Myosinopathies: pathology and mechanisms (2012) (146)
- Myosin storage myopathy associated with a heterozygous missense mutation in MYH7 (2003) (140)
- Inclusion body myositis: clinical, morphological, physiological and laboratory findings in 18 cases (1994) (136)
- Hereditary myosin myopathies (2007) (126)
- Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations. (1991) (126)
- Mitochondrial abnormalities in inclusion-body myositis (2006) (123)
- Muscle Biopsy: A Practical Approach (2020) (119)
- Mitochondrial DNA deletions in inclusion body myositis. (1993) (117)
- Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. (2007) (116)
- Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy (2012) (114)
- Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies (2011) (114)
- Mitochondrial DNA Deletions in Muscle Fibers in Inclusion Body Myositis (1995) (113)
- Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. (1993) (112)
- Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1 (2013) (109)
- Anti–T-lymphocyte globulin treatment in inclusion body myositis (2003) (107)
- Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy (2009) (102)
- “Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy (2009) (102)
- Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. (2012) (99)
- POLG1 Mutations Associated With Progressive Encephalopathy in Childhood (2006) (98)
- Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy. (2009) (97)
- Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia (1996) (96)
- Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. (2010) (94)
- Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q (1999) (93)
- Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome (2014) (90)
- Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). (2007) (89)
- Down-regulation of mitochondrial transcription factor A during spermatogenesis in humans. (1997) (83)
- Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes. (1991) (82)
- Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I. (2007) (82)
- Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations (2012) (80)
- Rett syndrome: cerebellar pathology. (1990) (80)
- Activation of insulin-like growth factor II expression during skeletal muscle regeneration in the rat: correlation with myotube formation. (1992) (80)
- Ophthalmological findings in children and young adults with genetically verified mitochondrial disease (2009) (79)
- Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles (1998) (77)
- Downregulation of Tfam and mtDNA copy number during mammalian spermatogenesis (2001) (76)
- A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion (2009) (74)
- Hereditary myopathy with early respiratory failure: occurrence in various populations (2013) (72)
- A new muscle glycogen storage disease associated with glycogenin‐1 deficiency (2014) (71)
- Distal arthrogryposis and muscle weakness associated with a β-tropomyosin mutation (2007) (71)
- Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. (2008) (70)
- Effects of growth hormone on skeletal muscle. I. Studies on normal adult rats. (1989) (67)
- Analysis of multiple mitochondrial DNA deletions in inclusion body myositis (1997) (67)
- Restricted use of T cell receptor V genes in endomysial infiltrates of patients with inflammatory myopathies (1994) (66)
- Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres (1992) (65)
- Two new mutations in the MTATP6 gene associated with Leigh syndrome. (2005) (65)
- Mitochondrial ATP-Synthase Deficiency in a Child with 3-Methylglutaconic Aciduria (1992) (64)
- Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age (2002) (61)
- Inclusion Body Myositis: Clonal Expansions of Muscle‐Infiltrating T Cells Persist Over Time (2003) (61)
- Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas (1995) (61)
- Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy (2007) (61)
- Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations (2014) (59)
- Mitochondrial (Mt)Dna Changes in Tissue May Not be Reflected by Depletion of Mtdna in Peripheral Blood Mononuclear Cells in HIV-Infected Patients (2005) (58)
- Defective regulation of contractile function in muscle fibres carrying an E41K β‐tropomyosin mutation (2008) (55)
- Effects of a R133W β‐tropomyosin mutation on regulation of muscle contraction in single human muscle fibres (2007) (53)
- Dilated cardiomyopathy and the dystrophin gene: an illustrated review. (1994) (53)
- Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations. (2010) (52)
- Neuropathology in Kearns-Sayre syndrome (2004) (52)
- Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child. (1992) (52)
- Local T‐Cell Proliferation and Differentiation in Inflammatory Myopathies (1995) (52)
- Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. (1999) (51)
- Autosomal dominant progressive external ophthalmoplegia (1999) (51)
- Polyglucosan storage myopathies. (2015) (49)
- Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy. (1994) (49)
- NEW SKELETAL MYOPATHY AND CARDIOMYOPATHY ASSOCIATED WITH A MISSENSE MUTATION IN MYH7 (2007) (48)
- Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation (2012) (48)
- A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis (2006) (46)
- Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1. (1999) (46)
- Contrast echocardiography reveals apparently normal coronary perfusion in a rat model of stress-induced (Takotsubo) cardiomyopathy. (2014) (45)
- New morphologic and genetic findings in cap disease associated with β-tropomyosin (TPM2) mutations (2008) (45)
- Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1) (2005) (44)
- Threshold expression of the tRNALys A8344G mutation in single muscle fibres (1997) (44)
- Myopathies associated with β-tropomyosin mutations (2012) (42)
- Effects of growth hormone on muscle regeneration and IGF-I concentration in old rats. (1990) (42)
- Oligoclonal expansion of muscle infiltrating T cells in inclusion body myositis (1997) (42)
- Distal arthrogryposis: clinical and genetic findings (2012) (41)
- Mitochondrial Myopathy and Rhabdomyolysis Associated with a Novel Nonsense Mutation in the Gene Encoding Cytochrome c Oxidase Subunit I (2005) (41)
- TPM3 mutation in one of the original cases of cap disease (2009) (41)
- X‐linked myotubular myopathy: a linkage study (1990) (40)
- Inclusion body myositis: peripheral nerve involvement Combined morphological and electrophysiological studies on peripheral nerves (1990) (39)
- Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene. (2003) (39)
- Mitochondrial myopathies. (2001) (39)
- Rett syndrome: spinal cord neuropathology. (1988) (39)
- Inclusion body myositis and welander distal myopathy: a clinical, neurophysiological and morphological comparison (1991) (39)
- New insights in the field of muscle glycogenoses (2013) (38)
- Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency. (2003) (38)
- Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations (2005) (37)
- PERMEABILITY OF THE PERINEURIUM OF SMALL NERVE FASCICLES: AN ULTRASTRUCTURAL STUDY USING FERRITIN IN RATS (1981) (37)
- SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency (2003) (36)
- Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA. (2005) (36)
- Tissue distribution and disease manifestations of the tRNALys A»G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres (2004) (35)
- Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism (1996) (35)
- Inclusion body myositis: morphological clues to correct diagnosis (2002) (34)
- Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2) (2005) (33)
- Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations (2013) (32)
- Cardiomyopathy as presenting sign of glycogenin-1 deficiency—report of three cases and review of the literature (2016) (31)
- Macrophages in peripheral nerves (2004) (31)
- Mitochondrial pathology in inclusion body myositis (2015) (31)
- New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations. (2015) (30)
- Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 (2019) (30)
- ANATOMICAL STUDY OF THE STRUCTURES AT THE ROOF OF THE ORBIT WITH SPECIAL REFERENCE TO THE CHECK LIGAMENT OF THE SUPERIOR FORNIX (2002) (29)
- Rhabdomyolysis and acute renal failure associated with influenza virus type A. (1999) (29)
- Early onset cardiomyopathy in females with Danon disease (2015) (29)
- Progressive encephalopathy and complex I deficiency associated with mutations in MTND1. (2008) (29)
- Effects of growth hormone on skeletal muscle. II. Studies on regeneration and denervation in adult rats. (1989) (29)
- Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation (2015) (29)
- Upregulation of Fas/Fas ligand in inclusion body myositis (1998) (29)
- A novel complex neurological phenotype due to a homozygous mutation in FDX2 (2018) (28)
- A novel heteroplasmic point mutation in the mitochondrial tRNALys gene in a sporadic case of mitochondrial encephalomyopathy: De novo mutation and no transmission to the offspring (1999) (28)
- Inclusion body myositis. (1999) (28)
- Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. (2014) (27)
- T cell receptor β-chain repertoire in inclusion body myositis (1998) (27)
- Limited T‐Cell Receptor V Gene Usage in Inclusion Body Myositis (1996) (27)
- Myopathies associated with myosin heavy chain mutations. (2004) (26)
- New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations. (2015) (26)
- Muscle changes in protein-deprived young rats A morphometrical, histochemical and ultrastructural study (1983) (26)
- B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations (2013) (26)
- Phenotypic and genotypic variability in Alpers syndrome. (2012) (26)
- Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia (1998) (25)
- Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1. (2015) (24)
- Diagnosis, pathogenesis and treatment of inclusion body myositis (2005) (24)
- MANGANESE deficiency. (2022) (24)
- Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron–sulphur cluster deficiency myopathy (2011) (24)
- Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion (2005) (24)
- Episodes of exercise‐induced dark urine and myalgia in LGMD 2I (2012) (24)
- X‐linked myotubular myopathy: clinical and pathological findings in a family (1989) (24)
- Thick filament diseases. (2008) (23)
- A novel mutation in the mitochondrial tRNAPhe gene associated with mitochondrial myopathy (2004) (23)
- TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism (2019) (23)
- Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C (2009) (23)
- Muscle pathology in Vici syndrome–A case study with a novel mutation in EPG5 and a summary of the literature (2017) (22)
- Raised troponin T in inclusion body myositis is common and serum levels are persistent over time (2006) (22)
- Inclusion body myositis: genetic factors, aberrant protein expression, and autoimmunity (2001) (22)
- Parvovirus B19 in Endomyocardial Biopsy of Patients With Idiopathic Dilated Cardiomyopathy: Foe or Bystander? (2019) (21)
- Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence? (2005) (20)
- Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing (2020) (20)
- Mitochondrial Encephalomyopathies (2003) (20)
- Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy (2000) (20)
- Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected]. (2013) (20)
- Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions (2005) (20)
- Inheritance and expression of mitochondrial DNA point mutations. (1995) (19)
- Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation (2012) (19)
- De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring (1995) (19)
- Mitochondrial myopathy and cardiomyopathy in siblings. (1989) (18)
- Expression of Bcl‐2 in inclusion body myositis (2002) (18)
- 1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018 (2019) (18)
- Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain (2014) (18)
- Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNAphe gene (2006) (18)
- THE PERMEABILITY OF THE BASAL LAMINA AT THE NEUROMUSCULAR JUNCTION. AN ULTRASTRUCTURAL STUDY OF RAT SKELETAL MUSCLE USING PARTICULATE TRACERS (1983) (18)
- Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A→G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gene (1996) (18)
- Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies (2018) (18)
- Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods (2016) (17)
- Prognosis and prognostic factors in sporadic inclusion body myositis (2012) (17)
- Weaning from mechanical support in a patient with acute heart failure and multiple sclerosis. (2000) (17)
- Neuropathology of Salla disease (2004) (17)
- A Caenorhabditis elegans model of the myosin heavy chain IIa E706R mutation (2005) (17)
- Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores. (2020) (16)
- Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys) (2006) (16)
- Clinical and muscle biopsy findings in malignant hyperthermia susceptibility (1986) (16)
- Myopathology in the times of modern genetics (2017) (16)
- Effects of nandrolone propionate on experimental tumor growth and cancer cachexia. (1995) (16)
- A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency (2016) (16)
- Threshold expression of the tRNAlys A8344G mutation in single muscle fibres (1997) (15)
- A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres (2015) (15)
- Fatal Dilated Cardiomyopathy Associated with a Mitochondrial DNA Deletion (2000) (15)
- Glycogen pathways in disease: new developments in a classical field of medical genetics (2015) (15)
- Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation. (2012) (15)
- Skeletal muscle regeneration in young rats is dependent on growth hormone (1991) (15)
- Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling. (2016) (15)
- An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids (2019) (15)
- MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. (2013) (15)
- RBCK1‐related disease: A rare multisystem disorder with polyglucosan storage, auto‐inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current literature (2020) (14)
- Motor nerve conduction velocity and nerve fibre diameter in experimental protein deprivation (2004) (14)
- Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile (2018) (14)
- Storage of lipofuscin in neurons in mucopolysaccharidosis (1981) (14)
- Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1) (2004) (14)
- Myosin storage myopathy with cardiomyopathy (2007) (13)
- MELAS syndrome in a patient with a point mutation in MTTS1 (2007) (13)
- Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations (2014) (13)
- A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness (2016) (13)
- Neonatal muscular manifestations in mitochondrial disorders. (2011) (13)
- LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences. (2014) (13)
- Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles (2020) (13)
- A novel sporadic mutation G14739A of the mitochondrial tRNAGlu in a girl with exercise intolerance (2006) (13)
- Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment (2019) (12)
- Search for Pompe disease among patients with undetermined myopathies (2016) (12)
- Barriers of peripheral nerve towards exogenous peroxidase in normal and protein deprived rats (1978) (12)
- Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy (2018) (12)
- Effects of training on skeletal muscle in protein-deprived rats (1985) (12)
- Novel myopathy in a newborn with Shwachman–Diamond syndrome and review of neonatal presentation (2016) (11)
- Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing (2020) (11)
- Early-onset myopathy with tubular aggregates. (1996) (11)
- Cytochromec oxidase deficiency in infancy (2004) (11)
- Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood (2004) (11)
- Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy (2018) (11)
- Polyglucosan myopathy and functional characterization of a novel GYG1 mutation (2017) (11)
- Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation (2011) (10)
- A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy (2012) (10)
- The effects of endurance training in persons with a hereditary myosin myopathy * (2004) (10)
- The effect of beta-adrenergic blockade on the myopathic changes in experimental hyperthyroidism in rats. (2009) (10)
- The morphological sequences in man of de- and reinnervation in free muscle transfer with microneurovascular anastomoses. (1989) (9)
- The influence of maternal protein deprivation on the developmental pattern of serum immunoreactive insulin-like growth factor 1 (IGF-1) levels. (1986) (9)
- The phenotypic variability and natural history of NARS2 associated disease. (2021) (9)
- Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1 (2017) (9)
- A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle (2016) (9)
- T cell receptor beta-chain repertoire in inclusion body myositis. (1998) (9)
- Histopathological changes in skeletal muscle associated with chronic ischaemia (2016) (9)
- Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations (2019) (8)
- Nerve fibre degeneration of the central and peripheral nervous systems in severe protein deprivation in rats (2004) (8)
- Hypoxic cardiac fibroblasts from failing human hearts decrease cardiomyocyte beating frequency in an ALOX15 dependent manner (2018) (8)
- Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency (2019) (8)
- Barriers and transport properties of the perineurium (1979) (8)
- Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage (2019) (8)
- Progressive external ophthalmoplegia associated with novel MT‐TN mutations (2020) (8)
- Diagnosis, management, and outcome of cardiac sarcoidosis and giant cell myocarditis: a Swedish single center experience (2022) (7)
- Cardiac arrest in Wilson's disease after curative liver transplantation: a life‐threatening complication of myocardial copper excess? (2019) (7)
- Nutritional rehabilitation of skeletal muscle in protein-deprived young rats (1986) (7)
- The Atrioventricular Junction: A Potential Niche Region for Progenitor Cells in the Adult Human Heart (2019) (7)
- Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO (2020) (7)
- A patient with two mitochondrial DNA mutations causing PEO and LHON. (2009) (6)
- Normal apical myocardial perfusion in the rat model with Takotsubo syndrome: is subsequent microvascular dysfunction and hypoperfusion an epiphenomenon? Reply. (2014) (6)
- Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia (2013) (6)
- Induced shift in myosin heavy chain expression in myosin myopathy by endurance training (2004) (5)
- A.O.9 Hypertrophic cardiomyopathy and abnormal glycogen storage in heart and skeletal muscle associated with inactivation of KLHL24 (2016) (5)
- 211th ENMC International Workshop: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17–19 April 2015, Naarden, The Netherlands (2017) (5)
- Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study (2022) (5)
- COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation (2020) (5)
- Is Glycogenin Essential for Glycogen Synthesis? (2017) (5)
- Autofluorescence emission spectra of neuronal lipopigment in mucopolysaccharidosis (Sanfilippo's syndrome) (2004) (5)
- Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency (2021) (5)
- Cholera toxin B-subunit incorporation into synaptic vesicles of the neuromuscular junction of the rat (1986) (5)
- A freeze‐fracture study of the perineurium in normal and protein‐deprived rats (1991) (4)
- Muscle regeneration (2004) (4)
- Neuropathology and neurochemistry (1993) (4)
- Somatostatin Receptor Positron Emission Tomography/Computed Tomography in Giant Cell Myocarditis: A Promising Approach to Molecular Myocardial Inflammation Imaging. (2021) (4)
- Effects of local extraneural application of diphtheria toxin on the sciatic nerves of normal and protein deprived rats (1979) (4)
- Paranodal myelin retraction in protein deficient and normal rats (1977) (4)
- The correlation between pathology, biochemistry and molecular genetics in mitochondrial encephalomyopathies (1991) (4)
- Subnormal levels of POL g A cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia (2013) (4)
- M.P.1.12 Progressive encephalopathy and complex I deficiency associated with novel mutations in MTND1 (2007) (4)
- Distinctive cerebral neuropathology in an adult case of SANDO syndrome (2017) (4)
- Association between muscle strength, histopathology, and magnetic resonance imaging in sporadic inclusion body myositis (2018) (4)
- Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene (2019) (4)
- Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency (2019) (3)
- MYH 2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17 p 13 . 1p 12 (2013) (3)
- Immunohistochemical demonstration of different muscle fibre types in paraffin sections (1989) (3)
- Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male (2017) (3)
- Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease (2018) (3)
- Mitochondrial encephalomyopathy (2004) (3)
- A.P.7 Misfolding of fibronectin III 119 subdomain in titin results in hereditary myopathy with early respiratory failure (2014) (3)
- 246th ENMC International Workshop: Protein aggregate myopathies 24–26 May 2019, Hoofddorp, The Netherlands (2020) (3)
- 251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands (2021) (3)
- Changes in specific gravity as a sign of disturbed brain maturation in protein‐deprived rats (1986) (2)
- Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy (2005) (2)
- MMP (2020) (2)
- Faculty Opinions recommendation of VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. (2009) (2)
- Duchenne muscular dystrophy and spinal muscular atrophy type I segregating in the same family (1994) (2)
- Peripheral nerve fibre degeneration in protein-deprived young rats (1982) (2)
- Respiratory chain dysfunction in perifascicular muscle fibres in patients with dermatomyositis is associated with mitochondrial DNA depletion (2022) (2)
- 22. Mitochondrial Myopathies (2013) (2)
- P1.35 Amphiphysin 2 (BIN1) and triad defects in several forms of centronuclear myopathies (2010) (2)
- P.189 Incidence and prevalence of inclusion body myositis in western Sweden (2017) (2)
- Epidemiology, Survival, and Clinical Characteristics of Inclusion Body Myositis (2022) (2)
- The localization of amyloid precursor protein to ependymal cilia in vertebrates and its role in ciliogenesis and brain development in zebrafish (2021) (2)
- Distinctive cerebral neuropathology in an adult case of sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) syndrome (2018) (1)
- 5698Parvovirus B19 in endomyocardial biopsy of patients with idiopathic dilated cardiomyopathy: foe or bystander? (2017) (1)
- Reply to Brodehl et al (2012) (1)
- Mitochondrial encephalomyopathies. (2007) (1)
- Segregation and manifestations of the mtDNA tRNA[sup Lys] A[r arrow]G[sup (8344)] mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome (1992) (1)
- P2544A novel stem cell niche in the human atrio-ventricular junction? (2017) (1)
- Cardiac fibrosis triggered by the kidney: a case report. (2006) (1)
- Faculty Opinions recommendation of Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. (2010) (1)
- O.4 Proteomic analysis confirms that HMERF associated with mutations in A-band titin is a new subtype of myofibrillar myopathies (2013) (1)
- P.364 Autophagy impairment in muscle biopsies from debranching enzyme deficiency (GSDIII) patients: pinpointing novel therapeutic perspectives (2017) (1)
- Clinical Diagnosis and Subtyping of Cardiac Amyloidosis by Mass Spectrometry. (2020) (1)
- P.294 Congenital mitochondrial encephalomyopathy with complex I deficiency due to mutations in sideroflexin 4 (SFXN4) (2016) (1)
- Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia. (2023) (1)
- [Primary benign lymphoma--tumor biology, pathology and clinical aspects]. (1988) (1)
- G.P.8 11 Towards the identification of new morphological subtypes of congenital myopathy (2006) (1)
- Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy (2021) (1)
- The effect of undernutrition on spinal ganglion nerve cell size (1977) (1)
- Tubular aggregates in congenital myasthenic syndrome (2017) (1)
- G.P.8 03 Cap disease – a variant of nemaline myopathy (2006) (1)
- REVERSIBLE SUCCINATE DEHYDROGENASE DEFICIENCY AFTER RHABDOMYOLYSIS IN ISCU MYOPATHY (2010) (1)
- Cardiac sarcoidosis and giant cell myocarditis after COVID‐19 infection (2022) (1)
- Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant (2021) (1)
- P4.46 Molecular pathogenesis of a new glycogenosis caused by a mutation in glycogenin-1 (2010) (1)
- P2.14 Familial myopathy with early respiratory failure and sharing of a large haplotype at chromosome 2q31 (2010) (1)
- P.P.5 05 A novel missense mutation in TPM2 associated with muscle weakness and distal arthrogryposis (2006) (1)
- Disorders of Voluntary Muscle: Ultrastructural study of muscle (2010) (1)
- Correction: Shuanglin Hao, Marina Mata, Darren Wolfe, Joseph C. Glorioso, David J. Fink. Gene transfer of glutamic acid decarboxylase reduces neuropathic pain. Ann Neurol 2005; 57: 914‐918. (2005) (0)
- P5.31 Clinical, morphological and magnetic resonance imaging findings in sporadic inclusion body myositis (2011) (0)
- Tropomyosin mutations responsible for muscle weakness in inherited skeletal muscle disease (2007) (0)
- Metabolic Fatty Liver Disease (2009) (0)
- P2 Myosin myopathies; a family case study (2014) (0)
- 31 HEREDITARY DEFECT IN MEMBRANE TRANSPORT OF CARNITINE (1988) (0)
- P.383 Proteomic characterization of polyglucosan bodies in patients with RBCK1 deficiency (2016) (0)
- Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy (2018) (0)
- P566Cardiac mast cells exist in all chambers of the failing human heart and may contribute to human heart failure (2017) (0)
- Commentary from the Editor (2001) (0)
- POMPE DISEASE AND METABOLIC DISORDERS P.64Deep clinic and histopathologic phenotyping in a cohort of 17 patients with GYG1-related polyglucosan body myopathy (2019) (0)
- G.P.301 Novel myopathy in a newborn with severe thoracic dysplasia caused by mutations in the SBDS gene: Further delineation of the phenotypic spectrum of Shwachman–Diamond syndrome (2015) (0)
- G.P.3.06 A patient with two mitochondrial DNA mutations causing PEO and LHON (2008) (0)
- OD20 RBCK1 mid-domain mutations with a phenotype spanning the entire spectrum of the condition: A rare polyglucosan storage disorder causing multisystem autoinflammation, immunodeficiency, cardiac and skeletal myopathy (2017) (0)
- P.382 Novel GYG1 mutation causing late-onset polyglucosan body myopathy with nemaline rods (2016) (0)
- Faculty Opinions recommendation of Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. (2009) (0)
- Neuromuscular Disorders Special Issue 2021 Marking the 90th birthday of Victor Dubowitz, Founding Editor-in-Chief (2021) (0)
- M.P.3.06 Genotypes and phenotypes associated with Alpers syndrome (2007) (0)
- O.5 Mutations in MuRF1 and MuRF3 cause a novel protein aggregate myopathy and cardiomyopathy (2013) (0)
- G.P.184 Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations (2014) (0)
- PROTECTIVE BARRIERS OF PERIPHERAL NERVES IN NORMAL AND PROTEIN DEPRIVED RATS. A STUDY WITH DIPHTHERIA TOXIN AND HORSERADISH PEROXIDASE (1978) (0)
- An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids (2019) (0)
- A.P.15 Severe early onset cardiomyopathy in females with Danon disease is not caused by skewed X-chromosome inactivation (2014) (0)
- Faculty Opinions recommendation of Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. (2012) (0)
- Faculty Opinions recommendation of MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. (2012) (0)
- P.P.3 02 Raised troponin T in inclusion body myositis is common and serum levels are persistent over time (2006) (0)
- G.O.2 Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin (2012) (0)
- Mild hyperphenylalaninemia (2020) (0)
- P.54Defects in iron-sulphur cluster assembly proteins ISCU and FDX2 cause characteristic mitochondrial myopathy (2019) (0)
- C.P.1.18 Distal arthrogryposis: Clinical, molecular genetic and muscle pathology findings (2007) (0)
- P.356 A novel mutation in EPG5 cause Vici syndrome with vacuolar myopathy (2016) (0)
- MNP025 Myozyme treatment in a boy with a mild form of infantile-onset Pompe disease (2007) (0)
- D.I.2 Myosin myopathies and distal arthrogryposis syndromes (2010) (0)
- A novel stem cell niche in the human atrio-ventricular junction? in vivo. BENCH Regenerative potential of pluripotent stem cell-derived PDGFRa+ cardiac lineage committed cells in infarcted myocardium (0)
- MMA (2020) (0)
- EP.12Mitochondrial myopathy and progressive external ophthalmoplegia associated with novel mutations m.5669G>A and m.5701delA in MT-TN (2019) (0)
- G.P.13.08 Dysphagia as presenting symptom of sIBM–morphological analysis of the cricopharyngeal muscle as a clue to the correct diagnosis (2007) (0)
- P.80 Respiratory chain dysfunction in dermatomyositis is associated with mitochondrial DNA depletion (2022) (0)
- P.38 A novel splice site variant in a patient with spinal muscular atrophy and hypoplastic left heart syndrome (2022) (0)
- [Rett syndrome--from a healthy infant to a disabled woman]. (1989) (0)
- G.O.1 Muscle disorders of glycogen metabolism associated with GYG1 and RBCK1 deficiency (2015) (0)
- O.19 Inactivation of glycogen synthesis priming due to a missense mutation in glycogenin-1 – A new disease mechanism (2010) (0)
- Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment (2019) (0)
- Genotype-phenotype correlations in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1 (2014) (0)
- P.10.17 Morphological changes in skeletal muscle associated with chronic ischemia (2013) (0)
- A rare monogenic polyglucosan storage disordercausing multisystem autoinflammation, recurrentinfections, cardiac and skeletal myopathies in female siblings (2017) (0)
- MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES P.324 Characterization of mitochondrial respiratory chain complexes in reversible infantile respiratory chain deficiency (2020) (0)
- MNP026 Clinical variation in distal arthrogryposis type 1, 2A and 2B with MYH3-mutations (2007) (0)
- O.20 Human disease caused by loss of fast IIa myosin heavy chain due to MYH2 mutations (2010) (0)
- G.P.3 07 Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNAphe gene (2006) (0)
- G.P.8 12 Centronuclear myopathy: clinical and morphological phenotype/genotype correlations (2006) (0)
- Correction: Homa Tajsharghi, Marc Pilon, Anders Oldfors. A Caenorhabditis elegans model of the myosin heavy chain IIa E706R mutation. Ann Neurol 2005;58:442‐448. (2005) (0)
- P.66 Acylcarnitine profile mimicking multiple acyl-CoA dehydrogenase deficiency in a patient with mitochondrial myopathy and a mutation in MT-CO2 (2017) (0)
- MITOCHONDRIAL DISEASES (Posters) P.194Deficiency of the iron-sulphur cluster assembly protein ISCU causes impaired biogenesis or stability of respiratory chain complex I, II and IV in muscle (2018) (0)
- C.P.1.17 β-Tropomyosin mutations alter tropomyosin isoforms expression in skeletal muscle (2007) (0)
- P.368 Biallelic mutation in FDXIL leads to a complex phenotype: optic atrophy, reversible leukoencephalopathy, metabolic myopathy and axonal polyneuropathy (2017) (0)
- [Mitochondrial diseases in children--a review]. (1987) (0)
- P3.40 Myopathy in a woman and her daughter associated with a novel MTM1 mutation (2011) (0)
- Amyloid precursor protein localises to ependymal cilia in vertebrates and is required for ciliogenesis and brain development in zebrafish (2021) (0)
- Subtyping of cardiac amyloidosis by mass spectrometry-based proteomics of endomyocardial biopsies (2022) (0)
- A novel type of autosomal dominant myopathy with rimmed vacuoles (1997) (0)
- Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2 (2022) (0)
- “dark necklace” fibers myopathy, a peculiar morphological pattern of congenital myopathy (2008) (0)
- Functional characterization of desmin mutant p.P419S Reply [Letter] (2013) (0)
- Commentary from the Editor (2022) (0)
- G.P.181 Mitochondrial pathology in inclusion body myositis (2015) (0)
- Faculty Opinions recommendation of Nemaline myopathy caused by absence of alpha-skeletal muscle actin. (2007) (0)
- Editorial (2020) (0)
- Faculty Opinions recommendation of Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. (2011) (0)
- P.71 Exercise intolerance in a large multigeneration family associated with a homoplasmic mitochondrial DNA mutation in MT-TL1 (2017) (0)
- T.P.23 Search for Pompe patients in patients with undetermined myopathies in South-West Sweden (2014) (0)
- Amyloid precursor protein localises to ependymal cilia in vertebrates and is required for ciliogenesis and brain development in zebra sh (2021) (0)
- C.O.7 Cap disease associated with mutations in the β-tropomyosin gene (TPM2) (2007) (0)
- Faculty Opinions recommendation of Sequence variation in mitochondrial complex I genes: mutation or polymorphism? (2006) (0)
- XII CONGRESS OF MEDITERRANEAN SOCIETY OF MYOLOGY Naples, Italy - May 18-20, 2015 Program (Summary) (2015) (0)
- P.16.13 Myopathy with typical OPMD morphology without association with the PABPN1 gene locus (2013) (0)
- Faculty Opinions recommendation of Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). (2008) (0)
- [Heart failure in amyloidosis--a rare but treatable disease]. (2002) (0)
- Expression of Stem Cell Niche-Related Biomarkers at the Base of the Human Tricuspid Valve (2022) (0)
- [Inclusion body myositis. An underdiagnosed disease with creeping muscular fatigue]. (1995) (0)
- G.P.9.09 Autophagic vacuolar myopathy in a female patient (2008) (0)
- Commentary from the Editor (2021) (0)
- P.78 Skeletal myopathy or cardiomyopathy in glycogenin-1 deficiency - Two sides of the coin (2022) (0)
- MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES P.318 RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, autoinflammation, recurrent infections, skeletal, and cardiac myopathy (2020) (0)
- Mitochondrial Defects in Myositis and Inclusion Body Myopathies (2002) (0)
- P.254 Severe X-linked myotubular myopathy with unexpected inheritance from the grandfather and identification of necklace fibers in an asymptomatic male (2017) (0)
- Echocardiography in inflammatory heart disease: A comparison of giant cell myocarditis, cardiac sarcoidosis, and acute non-fulminant myocarditis. (2023) (0)
- Commentary from the Editor (1972) (0)
- 55 GASTROINTESTINAL INVOLVEMENT IN TWO GIRLS WITH LARGE DELETIONS OF mtDNA (1994) (0)
- P.178 Clinical classification of variants in the valosin containing protein gene associated with multisystem proteinopathy (2022) (0)
- Preface to the Fifth Edition (2021) (0)
- CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES P.241Loss of sarcomeric scaffolding as a common baseline histopathologic lesion in titin-related myopathies (2018) (0)
- G.P.14.10 Myalgia and exercise-induced myoglobinuria is frequent in LGMD 2I (2008) (0)
- Faculty Opinions recommendation of Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. (2009) (0)
- EP.02Deep sequencing of mitochondrial DNA and functional characterization of a novel POLG mutation in a patient with autosomal recessive progressive external ophthalmoplegia (2019) (0)
- CONGENITAL MYOPATHIES: GENERAL AND RYR1 P.44Mutations in the myomaker gene causes Carey-Fineman-Ziter syndrome with muscle fiber hypertrophy (2018) (0)
- P.P.5 06 A mutation in the fast skeletal muscle Troponin I gene causes myopathy and distal arthrogryposis (2006) (0)
- Correction: Jieli Chen, Zheng Gang Zhang, Yi Li, Ying Wang, Lei Wang, Hao Jiang, Chenling Zhang, Mei Lu, Mark Katakowski, Carolyn S. Feldkamp, Michael Chopp. Statins induce angiogenesis, neurogenesis, and synaptogenesis after stroke. Ann Neurol 2003; 53: 743‐751. (2005) (0)
- P.15.12 Tubular aggregate myopathy caused by a heterozygous missense mutation in STIM1 (2013) (0)
- METABOLIC MYOPATHIES II P.357Expression analysis of glycogenin-1 and glycogenin-2 in patients with glycogen storage disease XV (2018) (0)
- Case report A novel sporadic mutation G14739A of the mitochondrial tRNA Glu in a girl with exercise intolerance (2006) (0)
- C.P.1.16 Skeletal muscle pathology in distal arthrogryposis associated with novel mutations in the embryonic myosin heavy chain gene MYH3 (2007) (0)
- Early onset autosomal dominant myopathy with external ophthalmoplegia and rimmed vacuoles in muscle fibers (1997) (0)
- P.P.5 04 Regulation of muscle contraction in a novel myopathy associated with a mutation in the beta-tropomyosin (TPM2) gene (2006) (0)
- Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile (2018) (0)
- P.15.8 Hereditary myopathy with early respiratory failure (HMERF) – Rapid increase of identified titinopathy families worldwide (2013) (0)
- Faculty Opinions recommendation of Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. (2007) (0)
- Faculty Opinions recommendation of OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. (2008) (0)
- PROCEEDINGS of the XVI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Lecce, Italy June 8-11, 2016 (2016) (0)
- G.P.121 A novel neuromuscular form of glycogen storage disease type IV characterized by spinal stiffness, arthrogrypotic features, and rare polyglucosan bodies in muscle biopsy (2015) (0)
- PP6.6 – 1797 Isolated complex I deficiency and atypical clinical courses in three patients due to novel mutations in NDUFS1 and NDUFV1 (2013) (0)
- AUTOIMMUNE MYOPATHIES P.303 Mitochondrial DNA rearrangements and point mutations in inclusion body myositis (2020) (0)
- CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES (2018) (0)
- C.P.9 A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with unusual clinical presentation and necklace fibres (2012) (0)
This paper list is powered by the following services:
What Schools Are Affiliated With Anders Oldfors?
Anders Oldfors is affiliated with the following schools:
