George Karpati
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Canadian neurologist
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George Karpati's Degrees
- PhD Neurology McGill University
Why Is George Karpati Influential?
(Suggest an Edit or Addition)According to Wikipedia, George Karpati, was a Canadian neurologist and neuroscientist who was one of the leading experts on the diagnosis and treatment of neuromuscular disorders including muscular dystrophy research. Born in Debrecen, Hungary, Karpati was a Holocaust survivor who emigrated to Canada in 1957. He received an M.D. from Dalhousie University in 1960. Karpati spent 30 years in clinical practise, research and teaching of neurology. He was the Izaak Walton Killam Chair and Professor of Neurology at McGill University.
George Karpati'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
- The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle (1988) (638)
- Inclusion body myositis and myopathies (1995) (482)
- The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy (2001) (473)
- The syndrome of systemic carnitine deficiency (1975) (369)
- Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination (1996) (367)
- The route of administration is a major determinant of the transduction efficiency of rat tissues by adenoviral recombinants. (1995) (361)
- Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). (1992) (327)
- Myoblast transfer in duchenne muscular dystrophy (1993) (310)
- Expression of immunoreactive major histocompatibility complex products in human skeletal muscles (1988) (301)
- Pathology of Skeletal Muscle (1984) (256)
- Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease (1990) (250)
- Dystrophin is expressed in mdx skeletal muscle fibers after normal myoblast implantation. (1989) (233)
- Small‐caliber skeletal muscle fibers do not suffer necrosis in mdx mouse dystrophy (1988) (231)
- Inclusion body myositis (1978) (230)
- Mutations in the gene–encoding SERCA1, the fast–twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease (1996) (225)
- Dystrophin-deficient mdx muscle fibers are preferentially vulnerable to necrosis induced by experimental lengthening contractions (1990) (219)
- Duchenne muscular dystrophy: plasma membrane loss initiates muscle cell necrosis unless it is repaired. (1979) (216)
- A differential efficiency of adenovirus-mediated in vivo gene transfer into skeletal muscle cells of different maturity. (1994) (208)
- Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. (1989) (196)
- Gene transfer into skeletal muscles by isogenic myoblasts. (1994) (195)
- Correlative histochemical study of skeletal muscle after suprasegmental denervation, peripheral nerve section, and skeletal fixation (1968) (192)
- Mitochondrial dysfunction and lipid accumulation in the human diaphragm during mechanical ventilation. (2012) (184)
- The childhood type of dermatomyositis (1976) (176)
- Dystrophin‐deficient cardiomyocytes are abnormally vulnerable to mechanical stress‐induced contractile failure and injury (2001) (176)
- Emergence of Early Region 1-Containing Replication-Competent Adenovirus in Stocks of Replication-Defective Adenovirus Recombinants (ΔE1 + ΔE3) During Multiple Passages in 293 Cells (1994) (173)
- Experimental ischemic myopathy. (1974) (171)
- Expression of the primary coxsackie and adenovirus receptor is downregulated during skeletal muscle maturation and limits the efficacy of adenovirus-mediated gene delivery to muscle cells. (1999) (169)
- A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. (1996) (168)
- Short‐term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders (1995) (165)
- Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. (1997) (162)
- Dystrophin expression in muscles of mdx mice after adenovirus-mediated in vivo gene transfer. (1996) (162)
- Gene shifting: a novel therapy for mitochondrial myopathy. (1999) (159)
- Proton MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies (1993) (150)
- Localization and Quantitation of the Chromosome 6-Encoded Dystrophin-Related Protein in Normal and Pathological Human Muscle (1993) (146)
- Small-caliber skeletal muscle fibers do not suffer deleterious consequences of dystrophic gene expression. (1986) (144)
- Mitochondrial dysfunction in multiple symmetrical lipomatosis (1991) (139)
- Dystrophic phenotype of canine X-linked muscular dystrophy is mitigated by adenovirus-mediated utrophin gene transfer (2003) (139)
- Factors influencing the efficacy, longevity, and safety of electroporation-assisted plasmid-based gene transfer into mouse muscles. (2004) (138)
- Impaired skeletal muscle maturation following neonatal neurectomy. (1968) (137)
- The Kearns-Shy syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin. (1973) (134)
- Effects of aerobic training in patients with mitochondrial myopathies (1998) (133)
- Experimental core-like lesions and nemaline rods. A correlative morphological and physiological study. (1972) (130)
- In vivo muscle magnetic resonance spectroscopy in the clinical investigation of mitochondria1 disease (1991) (129)
- Glucocorticoid excess induces preferential depletion of myosin in denervated skeletal muscle fibers (1987) (128)
- Sweat gland duct cells in Lafora disease (1981) (127)
- Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease (1993) (126)
- Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model. (1968) (123)
- The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease. (1977) (122)
- Adenovirus-mediated utrophin gene transfer mitigates the dystrophic phenotype of mdx mouse muscles. (1999) (121)
- Specific involvement of muscle, nerve, and skin in late infantile and juvenile amaurotic idiocy (1972) (120)
- Cardiac myxoma (1976) (118)
- Chronic inflammatory demyelinating polyneuropathy (CIDP) in diabetics (1996) (118)
- Transient immunosuppression by FK506 permits a sustained high-level dystrophin expression after adenovirus-mediated dystrophin minigene transfer to skeletal muscles of adult dystrophic (mdx) mice. (1996) (116)
- Loss and renewal of thick myofilaments in glucocorticoid‐treated rat soleus after denervation and reinnervation (1992) (115)
- Late‐onset mitochondrial myopathy (1995) (103)
- Histochemical investigation of fiber type ratios with the myofibrillar ATP-ase reaction in normal and denervated skeletal muscles of guinea pig. (1968) (102)
- Glycogen branching enzyme deficiency in adult polyglucosan body disease (1993) (100)
- Myopathy caused by a deficiency of Ca2+‐adenosine triphosphatase in sarcoplasmic reticulum (Brody's disease) (1986) (100)
- The principles of gene therapy for the nervous system (1996) (97)
- Cultured human myoblasts and myotubes show markedly different transducibility by replication-defective adenovirus recombinants. (1994) (95)
- Vesicular stomatitis virus G pseudotyped retrovector mediates effective in vivo suicide gene delivery in experimental brain cancer. (1999) (93)
- A new concept of childhood nemaline myopathy. (1971) (92)
- Gentamicin fails to increase dystrophin expression in dystrophin‐deficient muscle (2003) (90)
- High-level dystrophin expression after adenovirus-mediated dystrophin minigene transfer to skeletal muscle of dystrophic dogs: prolongation of expression with immunosuppression. (1998) (90)
- Giant axonal neuropathy. A clinically and morphologically distinct neurological disease. (1974) (89)
- Neuronal trophic function. A new aspect demonstrated histochemically in developing soleus muscle. (1967) (89)
- Prevention of the dystrophic phenotype in dystrophin/utrophin-deficient muscle following adenovirus-mediated transfer of a utrophin minigene (2000) (87)
- Lectin histochemistry of human skeletal muscle. (1981) (86)
- cDNA clone and expression analysis of rodent fast and slow skeletal muscle troponin I mRNAs. (1989) (85)
- Intracerebral adenovirus-mediated p53 tumor suppressor gene therapy for experimental human glioma. (1999) (82)
- IMMUNOLOGIC DEFICIENCY IN ATAXIA TELANGIECTASIA. (1965) (81)
- Transformation of the Histochemical Profile of Skeletal Muscle by “Foreign” Innervation (1967) (80)
- NEUROPSYCHIATRIC DISORDERS IN PRIMARY HYPERPARATHYROIDISM. CLINICAL ANALYSIS WITH REVIEW OF THE LITERATURE. (1964) (80)
- Short‐term aerobic training response in chronic myopathies (1999) (80)
- Emergence of early region 1-containing replication-competent adenovirus in stocks of replication-defective adenovirus recombinants (delta E1 + delta E3) during multiple passages in 293 cells. (1994) (77)
- Combined central and peripheral myelinopathy (1987) (77)
- Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (2003) (76)
- The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease (2000) (76)
- Use of the dog model for Duchenne muscular dystrophy in gene therapy trials (1997) (74)
- Sustained improvement of muscle function one year after full-length dystrophin gene transfer into mdx mice by a gutted helper-dependent adenoviral vector. (2004) (74)
- Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease. (1995) (73)
- Combined aerobic training and dichloroacetate improve exercise capacity and indices of aerobic metabolism in muscle cytochrome oxidase deficiency (1996) (70)
- Differential short-term transduction efficiency of adult versus newborn mouse tissues by adenoviral recombinants. (1995) (68)
- PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions (2005) (68)
- Histochemical and contractile properties in the cross-innervated guinea pig soleus muscle. (1969) (68)
- Clinical spectrum of mitochondrial DNA mutation at base pair 8344 (1991) (67)
- Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy. (1997) (67)
- Adenovirus-mediated dystrophin minigene transfer improves muscle strength in adult dystrophic (MDX) mice (1998) (66)
- Muscle-Specific Overexpression of the Adenovirus Primary Receptor CAR Overcomes Low Efficiency of Gene Transfer to Mature Skeletal Muscle (2001) (66)
- Ultrasound increases plasmid-mediated gene transfer to dystrophic muscles without collateral damage. (2002) (65)
- Type I muscle fibre atrophy and central nuclei. A rare familial neuromuscular disease. (1970) (65)
- Prolonged dystrophin expression and functional correction of mdx mouse muscle following gene transfer with a helper-dependent (gutted) adenovirus-encoding murine dystrophin. (2003) (64)
- Discordant expression of utrophin and its transcript in human and mouse skeletal muscles. (1999) (61)
- Dystrophin expression in muscle following gene transfer with a fully deleted ("gutted") adenovirus is markedly improved by trans-acting adenoviral gene products. (2001) (60)
- Differential effects of dystrophin and utrophin gene transfer in immunocompetent muscular dystrophy (mdx) mice. (2000) (60)
- Lafora's disease (1974) (59)
- Familial inclusion body myositis among Kurdish-Iranian Jews. (1991) (58)
- Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy (2006) (58)
- A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits. (1973) (58)
- Isoform-specific expression of the Coxsackie and adenovirus receptor (CAR) in neuromuscular junction and cardiac intercalated discs (2004) (58)
- Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers (1995) (57)
- The effect of glucocorticoids on the accumulation of utrophin by cultured normal and dystrophic human skeletal muscle satellite cells (1995) (55)
- Segmental Necrosis and Its Demarcation in Experimental Micropuncture Injury of Skeletal Muscle Fibers (1989) (54)
- Various types of herediary inclusion body myopathies map to chromosome 9p1‐q1 (1997) (53)
- Impairment of muscle mitochondrial oxidative metabolism in McArdle's disease (1996) (53)
- Age-Related Conversion of Dystrophin-Negative to -Positive Fiber Segments of Skeletal but not Cardiac Muscle Fibers in Heterozygote mdx Mice (1990) (53)
- The motor unit profile of the rat soleus in experimental myopathy and reinnervation (1974) (52)
- Dystrophin is localized to the plasma membrane of human skeletal muscle fibers by electron‐microscopic cytochemical study (1990) (52)
- Conspicuous accumulation of a single-stranded DNA binding protein in skeletal muscle fibers in inclusion body myositis. (1994) (52)
- Familial myopathy with changes resembling inclusion body myositis and periventricular leucoencephalopathy. A new syndrome. (1988) (52)
- Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice (2005) (52)
- Efficient muscle-specific transgene expression after adenovirus-mediated gene transfer in mice using a 1.35 kb muscle creatine kinase promoter/enhancer (1997) (52)
- Invited Review. The potential for gene therapy in duchenne muscular dystrophy and other genetic muscle diseases (1993) (52)
- Pathology of the inflammatory myopathies. (1993) (52)
- Expression of NCAM and its polysialylated isoforms during mdx mouse muscle regeneration and in vitro myogenesis (1994) (50)
- The effect of muscle hyper- and hypoactivity upon fibre diameters of intact and regenerating nerves. (1973) (50)
- Combinatorial Blockade of Calcineurin and CD28 Signaling Facilitates Primary and Secondary Therapeutic Gene Transfer by Adenovirus Vectors in Dystrophic (mdx) Mouse Muscles (1998) (49)
- Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions (2006) (49)
- THE EFFECT OF VINCRISTINE ON SKELETAL MUSCLE IN THE RAT: A Correlative Histochemical, Ultrastructural and Chemical Study (1972) (49)
- Efficient utrophin expression following adenovirus gene transfer in dystrophic muscle. (1998) (48)
- hnRNP A1 and A/B Interaction with PABPN1 in Oculopharyngeal Muscular Dystrophy (2003) (47)
- Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis. (1998) (47)
- Experimental mitochondrial myopathy produced by in vivo uncoupling of oxidative phosphorylation (1975) (47)
- Modulation of Starling forces and muscle fiber maturity permits adenovirus-mediated gene transfer to adult dystrophic (mdx) mice by the intravascular route. (2000) (46)
- The clinical consequences of X-chromosome inactivation: Duchenne muscular dystrophy in one of monozygotic twins (1987) (45)
- Immunosuppression by FK506 markedly prolongs expression of adenovirus-delivered transgene in skeletal muscles of adult dystrophic [mdx] mice. (1995) (45)
- Dystrophin is tightly associated with the sarcolemma of mammalian skeletal muscle fibers. (1991) (43)
- Sporadic inclusion body myositis: Pathogenic considerations (2009) (41)
- Optimization of regional intraarterial naked DNA-mediated transgene delivery to skeletal muscles in a large animal model. (2005) (41)
- Impairment of force generation after adenovirus-mediated gene transfer to muscle is alleviated by adenoviral gene inactivation and host CD8+ T cell deficiency. (1996) (40)
- The major inflammatory myopathies of unknown cause. (1981) (40)
- Adenovirus‐mediated Wild‐type p53 Gene Transfer and Overexpression Induces Apoptosis of Human Glioma Cells Independent of Endogenous p53 Status (1997) (40)
- Successful transplantation of genetically corrected DMD myoblasts following ex vivo transduction with the dystrophin minigene. (1998) (40)
- The spread of transgene expression at the site of gene construct injection (2001) (39)
- Juvenile dystonic lipidosis (1977) (39)
- Hexosaminidase-A deficiency presenting as atypical juvenile-onset spinal muscular atrophy. (1985) (39)
- Progressive dystonia with bilateral putaminal hypodensities. (1987) (38)
- Anorectal incontinence in myotonic dystrophy: a myopathic involvement of pelvic floor muscles. (1992) (38)
- Glucocorticoids and immunosup pressants do not change the prevalence of necrosis and regeneration in mdx skeletal muscles (1991) (37)
- Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency (1988) (37)
- ATAXIA-TELANGIECTASIA. FURTHER OBSERVATIONS AND REPORT OF EIGHT CASES. (1965) (36)
- Pathological involvement of primary sensory neurons in Werdnig-Hoffmann disease (1978) (36)
- Major Alteration of the Pathological Phenotype in Gamma Irradiated mdx Soleus Muscles (1991) (36)
- Efficiency and functional consequences of adenovirus-mediated in vivo gene transfer to normal and dystrophic (mdx) mouse diaphragm. (1995) (35)
- Sarcoplasmic reticulum adenosine triphosphatase deficiency with probable autosomal dominant inheritance (1988) (35)
- Virus‐like filaments and phospholipid accumulation in skeletal muscle (1970) (34)
- Expression of human dystrophin following the transplantation of genetically modified mdx myoblasts (1998) (34)
- Letter to the editor: Subtypes of the histochemical type I muscle fibers. (1975) (34)
- Successful compensation for dystrophin deficiency by a helper-dependent adenovirus expressing full-length utrophin. (2007) (34)
- Vacuolation of Muscle Fibers Near Sarcolemmal Breaks Represents T-Tubule Dilatation Secondary to Enhanced Sodium Pump Activity (1988) (33)
- Dermatomyositis associated with celiac disease: response to a gluten-free diet. (2006) (32)
- In vivo magnetic resonance spectroscopy of brain and muscle in a type of mitochondrial encephalomyopathy (MERRF) (1991) (32)
- Improved performance of a fully gutted adenovirus vector containing two full-length dystrophin cDNAs regulated by a strong promoter. (2002) (32)
- Muscle pain, fatigue, and mitochondriopathies. (1999) (31)
- Abnormal oxidative metabolism in exercise in exercise intolerance of undetermined origin (1997) (31)
- Viral hide-and-seek in sporadic ALS (2000) (30)
- Toxicity of Replication-Defective Adenoviral Recombinants in Dissociated Cultures of Nervous Tissue (1996) (30)
- Intracellular phosphates in inclusion body myositis—A 31P magnetic resonance spectroscopy study (1998) (30)
- Cylindrical spirals in human skeletal muscle (1979) (30)
- Therapeutic gene transfer to dystrophic diaphragm by an adenoviral vector deleted of all viral genes. (2004) (30)
- The Pathological Diagnosis of Specific Inflammatory Myopathies (1991) (29)
- Subacute skeletal myopathy induced by 2,4‐dichlorophenoxyacetate in rats and guinea pigs (1978) (29)
- Prevention of skeletal muscle fiber necrosis in hamster dystrophy (1982) (28)
- Targeting Artificial Transcription Factors to the Utrophin A Promoter (2008) (28)
- Correlative multidisciplinary approach to the study of mitochondrial encephalomyopathies. (1991) (27)
- Generation, validation, and large scale production of adenoviral recombinants with large size inserts such as a 6.3 kb human dystrophin cDNA. (1997) (26)
- Interferons impair early transgene expression by adenovirus-mediated gene transfer in muscle cells (1998) (26)
- Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy. (2002) (26)
- Adenovirus and adeno-associated virus-mediated delivery of human myophosphorylase cDNA and LacZ cDNA to muscle in the ovine model of McArdle’s disease: Expression and re-expression of glycogen phosphorylase (2008) (26)
- Gene therapy research for Duchenne and Becker muscular dystrophies. (1997) (25)
- Three familial midline malformtion syndromes of the central nervous system: agenesis of the corpus callosum and anterior horn-cell disease; agenesis of cerebellar vermis; and atrophy of the cerebellar vermis. (1975) (25)
- A Pro504 → Ser Substitution in the β-Subunit of β-Hexosaminidase A Inhibits α-Subunit Hydrolysis of GM2Ganglioside, Resulting in Chronic Sandhoff Disease* (1998) (24)
- The principles and practice of myoblast transfer. (1990) (24)
- Myophosphorylase gene transfer in McArdle’s disease myoblasts in vitro (1999) (24)
- A hypothesis for the pathogenesis of amyotrophic lateral sclerosis. (1988) (23)
- Muscle Fibre Regeneration in Human Skeletal Muscle Diseases (2008) (23)
- Increased expression of CNTF receptor alpha in denervated human skeletal muscle. (1998) (23)
- Hypophysectomy mitigates skeletal muscle fiber damage in hamster dystrophy (1985) (23)
- Inhibition of myosatellite cell proliferation by gamma irradiation does not prevent the age-related increase of the number of dystrophin-positive fibers in soleus muscles of mdx female heterozygote mice. (1991) (21)
- New observations in reducing body myopathy (1985) (20)
- Multiple peripheral nerve entrapments. An unusual phenotypical variant of the Hunter syndrome (mucopolysaccharidosis II) in a family. (1974) (20)
- Lysosomal storage in human skeletal muscle. (1986) (20)
- Syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features (2011) (20)
- Ultrastructural findings in lafora disease (1981) (20)
- Metachromatic leukodystrophy: Multiple nonfunctional and pseudodeficiency alleles in a pedigree: Problems with diagnosis and counseling (1993) (20)
- Utrophin muscles in on the action (1997) (19)
- Immunohistochemical localization of creatine phosphokinase in skeletal muscle. (1969) (19)
- The immunosuppressant FK506 prolongs transgene expression in brain following adenovirus‐mediated gene transfer (1997) (19)
- When running a stop sign may be a good thing (2001) (19)
- Immunolocalization of NAIP in the human brain and spinal cord (2000) (18)
- Myopathy with trabecular muscle fibers (1999) (18)
- Reserpine induced alteration of physiological properties and histochemical fiber types in rat skeletal muscle (1975) (18)
- The short MCK1350 promoter/enhancer allows for sufficient dystrophin expression in skeletal muscles of mdx mice. (2002) (18)
- The principles of gene therapy in Duchenne muscular dystrophy. (1994) (17)
- Phosphorylase re-expression, increase in the force of contraction and decreased fatigue following notexin-induced muscle damage and regeneration in the ovine model of McArdle disease (2014) (17)
- Factors associated with induced chronic inflammation in mdx skeletal muscle cause posttranslational stabilization and augmentation of extrasynaptic sarcolemmal utrophin. (2005) (16)
- Forced myofiber regeneration promotes dystrophin gene transfer and improved muscle function despite advanced disease in old dystrophic mice. (2001) (16)
- The Effects of Partial Chronic Denervation on Forearm Metabolism (1979) (16)
- An experimental morphometric study of neutral lipid accumulation in skeletal muscles (1981) (16)
- Localization of coxsackie virus and adenovirus receptor (CAR) in normal and regenerating human muscle (2005) (15)
- CT-GalNAc transferase overexpression in adult mice is associated with extrasynaptic utrophin in skeletal muscle fibres (2010) (15)
- Myoblast Transfer Therapy (2012) (15)
- Molecular therapy for genetic muscle diseases--status 1999. (1999) (15)
- Molecular therapy for glioblastoma. (1999) (15)
- Reinnervation is followed by necrosis in previously denervated skeletal muscles of dystrophic hamsters (1983) (15)
- Myoblast transfer in DMD: problems in the interpretation of efficiency. (1992) (14)
- The scope of gene therapy in humans: scientific, safety and ethical considerations (1997) (14)
- Intracellular phosphates in inclusion body myositis--a 31P magnetic resonance spectroscopy study. (1998) (14)
- Sequence of expression of MyoD1 and various cell surface and cytoskeletal proteins in regenerating mouse muscle fibers following treatment with sodium dihydrogen phosphate (1999) (14)
- Familial myopathy with conspicuous depletion of mitochondria in muscle fibers: a morphologically distinct disease (1995) (14)
- Mitigation of deleterious effects of certain abnormal genes in immature skeletal muscle cells (1984) (13)
- Mitochondrial Encephalomyopathies: A Solution to the Enigma of the Ramsay Hunt Syndrome (1987) (13)
- Forearm metabolism in patients with chronic liver disease. (1969) (12)
- Comprar Disorders of Voluntary Muscle | Robert C. Griggs | 9780521876292 | Cambridge University Press (2010) (12)
- Developmental regulation of cell-surface glycoproteins in clonal cultures of human skeletal muscle satellite cells. (1989) (12)
- Danon disease due to a novel splice mutation in the LAMP2 gene (2008) (11)
- Calcium paradox in skeletal muscles: Physiologic and microscopic observations (1986) (11)
- Strong muscle-specific regulatory cassettes based on multiple copies of the human slow troponin I gene upstream enhancer. (2010) (10)
- Antiepileptic drug myopathy (1994) (10)
- Amyotrophic lateral sclerosis: A critique of a hypothesis (1992) (10)
- Spontaneous electrical activity in muscle (1971) (10)
- Differentiation of Murine Embryonic Stem Cells in Skeletal Muscles of Mice (2008) (9)
- “Killer” cell activity in Duchenne muscular dystrophy (1986) (9)
- Denervation and disuse atrophy of skeletal muscles — involvement of endogenous glucocorticoid hormones? (1984) (9)
- Disorders of Voluntary Muscle: Inflammatory myopathies (2010) (9)
- Immunohistochemical study of creatine phosphokinase in pathological human muscle. (1971) (8)
- Downregulation of CD46 during muscle differentiation: implications for gene transfer to human skeletal muscle using group B adenoviruses. (2008) (8)
- Facial weakness in hereditary inclusion body myopathies (1998) (8)
- The pathogenesis of dermatomyositis. (1991) (8)
- Simultaneous dystrophin and dysferlin deficiencies associated with high-level expression of the coxsackie and adenovirus receptor in transgenic mice. (2006) (7)
- Nondystrophic myoblast transplantation into dystrophic muscle. (1989) (7)
- Minimal expansion of the GCG repeat in the PABP2 gene does not predispose to sporadic inclusion body myositis (1999) (7)
- Modulation of coxsackie and adenovirus receptor expression for gene transfer to normal and dystrophic skeletal muscle (2010) (6)
- INCLUSION BODY MYOSITIS: STATUS 1997 (1997) (6)
- A Clinician's View of Neuromuscular Diseases (1986) (6)
- The Dawning of a New Era in the Molecular Biology of the Muscular Dystrophies (1996) (6)
- Immunological aspects of histoincompatible myoblast transfer into non-tolerant hosts. (1990) (6)
- The Molecular Era of Myology (2003) (5)
- The effects of muscle hyper- and hypoactivity upon fiber diameters of intact and regenerating nerves. (1973) (5)
- Familial multiple peripheral nerve entrapments--an unusual manifestation of a peripheral neuropathy. (1973) (5)
- The principles of molecular therapies for glioblastoma. (2003) (5)
- Skeletal muscle gene transfer: regeneration-associated deregulation of fast troponin I fiber type specificity. (2000) (5)
- Maturational arrest. (1976) (4)
- Skeletal muscle endurance: The effect of increased availability of endogenous long-chain fatty acid fuel (1986) (4)
- Gene Therapy with Virus Vectors for specific Disease of the Nervous System: The Principles Of Molecular Therapies For Glioblastoma (2003) (4)
- Recent developments in the biology of dystrophin and related molecules. (1992) (4)
- Are big muscles necessarily good muscles? (2008) (4)
- A clever road from myopathology to genes (2004) (4)
- Study of adenovirus-mediated dystrophin minigene transfer to skeletal muscle by combined microscopic display of adenoviral DNA and dystrophin. (1997) (4)
- ADULT POLYGLUCOSAN BODY AXONOPATHY - A DISTINCT CHRONIC NEUROLOGICAL DISEASE (1978) (4)
- Pattern of X-chromosome inactivation as a key determinant of the clinicopathologic phenotype of Duchenne muscular dystrophy carriers (1996) (4)
- Calcium-induced damage of skeletal muscle fibers is markedly reduced by calcium channel blockers (2004) (4)
- Effects of lidocaine on the lysosomes of cultured skin fibroblasts. (1982) (3)
- Current topics in nerve and muscle research : selected papers of the symposia held at the IVth International Congress on Neuromuscular Diseases, Montreal, Canada, September 17-21, 1978 (1979) (3)
- The blood-cerebrospinal fluid barrier to antibodies in experimental allergic encephalomyelitis and neuritis. (1965) (3)
- Molecular therapies for the nervous system and muscle. (2003) (3)
- Spontaneous electrical activity in muscle. Description of two patients with motor neurone disease. (1971) (3)
- Challenges for the genetic screening in dysferlin deficiency--report of an instructive case and review of the literature. (2008) (3)
- Virus like filaments and phospholipid accumulations in a case of chronic myopathy. (1971) (3)
- Abnormal insulin homeostasis in myotonic dystrophy (1985) (2)
- The scientific basis of muscle disease (2010) (2)
- A chronic myopathy with coated vesicles and tubular masses (1992) (2)
- Molecular sparks and chemical mediators in muscle regeneration (1984) (2)
- PERIPHERAL NERVE PATHOLOGY IN THE SYNDROME OF AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (1985) (2)
- Cortical Metabolic Dysfunction in a Mitochondrial Encephalomyopathy (MERRF) Demonstrated by Positron Emission Tomography (1987) (2)
- A distinctive type of infantile inflammatory myopathy with abnormal myonuclei (1996) (2)
- Dystrophin, utrophin, and muscular dystrophy. (1995) (1)
- Sweetening the pot in muscle (2002) (1)
- 256. An Ideal Therapeutic Agent for Duchenne Muscular Dystrophy Involving a Gutted Adenovirus Expressing Full-Length Utrophin (2005) (1)
- First Annual San Francisco Cancer Symposium November 12–13, 1965 (1966) (1)
- Letters to the editor (1992) (1)
- Sequence of expression of MyoD1 and various cell surface and cytoskeletal proteins in regenerating mouse muscle fibers following treatment with sodium dihydrogen phosphate (1999) (1)
- Erratum to ‘Sequence of expression of MyoD1 and various cell surface and cytoskeletal proteins in regenerating mouse muscle fibers following treatment with sodium dihydrogen phosphate’ [J. Neurol. Sci. 165 (1999) 106–115] (1999) (1)
- Neuromuscular Disease From Basic Mechanisms to Clinical Management (2001) (1)
- Brody’s Syndrome: a Disorder of Calcium Uptake by the Sarcoplasmic Reticulum (1999) (1)
- Muscle-specific overexpression of the coxsackie-adenovirus receptor in transgenic mice Enhanced efficiency of gene transfer to mature skeletal muscle of hemizygous mice (2001) (1)
- Letters to the editor (1991) (1)
- Subtypes of histochemical type I muscle fibers (1976) (1)
- A clue for the enigmatic etiology? (2000) (1)
- Metabolic Oversupply and Mitochondrial Dysfunction as a Cause of Diaphragmatic Failure after Mechanical Ventilation (2012) (1)
- [Clinical experiences with radium and radiogold needles in lip tumors, with particular reference to dosimetry and measurement of gonadal doses]. (1966) (1)
- [On radium therapy of plastic penile induration and related radiation protection problems]. (1963) (1)
- Partially denervated and reinnervated muscles in Duchenne muscular dystrophy. (1984) (1)
- Prospects of gene therapy for genetic skeletal muscle disease (1996) (1)
- [Our experience with telecobalt therapy of parametrial recurrence of tumours of the uterus]. (1966) (0)
- Late-onset seizures and dementia in MELAS syndrome (1992) (0)
- Reply (1995) (0)
- Letters to the editor (0)
- [On the problem of early and laat occurrence of lip carcinoma]. (1968) (0)
- Muscle Cramps Are Revisited (2006) (0)
- Muscle Pathology and Histochemistry. 1983. By Harvey B. Sarnat. Published by American Society of Clinical Pathology Press, Chicago. 216 pages and 216 color plates. $95 Cdn. approx. (text alone); $220 Cdn. approx. (text and color slide set combination). (1984) (0)
- Disorders of Voluntary Muscle: Preface (2010) (0)
- Investigations of gene therapy for McArdle's disease using the sheep model (1999) (0)
- Psychiatric and Neuromuscular Manifestations in Primary Hyperparathyroidism. (1964) (0)
- [On complex treatment of induratio penis plastica. Experiences of 831 cases]. (1966) (0)
- A clinician's view of neuromuscular diseases edited by Michael H. Brooke, Williams & Wilkins, 1986. £38.00 (xiii + 388 pages) ISBN 0 683 01064 6 (1987) (0)
- Clinical experiences with vinblastine. (1968) (0)
- Gene therapy trials in the ovine model of McArdle's disease (2001) (0)
- Synopsis of Proceedings of the Workshop on the Implementation of Myoblast Transfer in Humans (1990) (0)
- [Myositis with inclusion bodies]. (1989) (0)
- RADIUM TREATMENT OF THE PLASTIC INDURATION OF THE PENIS AND THE PROBLEM OF THE RAY-PROTECTION (1963) (0)
- Neuromuscular Diseases: From Basic Mechanisms to Clinical Management. Monographs in Clinical Neurosciences: Vol. 18. 2000. Edited by F. Deymeer. Published by Karger. 196 pages. C$241.00 approx. (2001) (0)
- OUR EXPERIENCES WITH TELECOBALT THERAPY OF PARAMETRIAL RECIDIVATIONS OF TUMORS OF THE UTERUS. (1966) (0)
- [Histomorphologic and histochemical studies of preoperatively irradiated breast tumors]. (1965) (0)
- Golden retriever muscular dystrophy and the development of genetherapy regimes for duchenne muscular dystrophy (1998) (0)
- 327. Muscle Specific and Efficient Transgene Expression Using the Fast and Slow Troponin I Promoters in Cell Culture (2006) (0)
- Disorders of Voluntary Muscle: Dedication (2010) (0)
- 144. Lectin Cytochemistry of Spinal Cord and Roots. (1982) (0)
- McArdle's disease aggravates nuchal and cranial muscle contraction pains. (1989) (0)
- AGING AND MUSCLE MITOCHONDRIAL ABNORMALITIES. AUTHORS' REPLIES (1995) (0)
- [Experiences and new method in the therapy of penile plastic induration]. (1951) (0)
- Adenovirus-mediated myophosphorylase gene transfer in myophosphorylase-deficient cells in vitro (1998) (0)
- Familial Adult-onset Motor Neuronopathy Due to a β-Locus Hexosaminidase Mutation (1987) (0)
- Letters to the editor (1989) (0)
- Disorders of Voluntary Muscle: The principles of molecular therapies for muscle diseases (2010) (0)
- Familial Inclusion Body Myopathy with Periventricular Leukodystrophy: A Newly Recognized Syndrome (1987) (0)
- Experimental vincristine myopathy--a histochemical, ultrastructural and biochemical study. (1971) (0)
- Neuromuscular Manifestations of Systemic Disease by Robert B. Layzer, F. A. Davis Co, 1985. $75.00 (xii + 434 pages) ISBN 0 8036 5521 5 (1986) (0)
- Chemical-nutritional physiological evaluation of a few products manufactured with the use of soy protein (1974) (0)
- Molecular basis of muscular dystrophies (2007) (0)
- Books Received (2002) (0)
- Prominent T-Tubule Dilatation in Muscle Fibers Near Sarcolemmal Breaks: An In Vitro Model (1987) (0)
- Central and peripheral demyelinization (1988) (0)
- [Current status of cancer control in Hungary]. (1961) (0)
- Immune therapy for neuromuscular diseases (1998) (0)
- Vesicular Stomatitis Virus G Pseudotyped Retrovector Mediates Effective in Vivo Suicide Gene Delivery in Experimental Brain Cancer 1 (1999) (0)
- Mitochondrial myopathy in primary biliary cirrhosis an antibody mediated mitochondrial cytopathy (1988) (0)
- [Problems of management of malignant bladder tumors with special reference to radiation therapy]. (1965) (0)
- Characterization of the Mitochondrial DMA Abnormalities in the Skeletal Muscle of Patients with Inclusion Body Myositis (1998) (0)
- GREATER PERIPHERAL THAN CENTRAL ADAPTATION TO AEROBIC TRAINING IN MITOCHONDRIAL MYOPATHIES 186 (1997) (0)
- Status epilepticus with neuron-reactive serum antibodies: Response to plasma exchange (2017) (0)
- Radiosilver in liver scintigraphy. (1966) (0)
- Letter: Subtypes of histochemical type I muscle fibers. (1976) (0)
- Highlights of molecular myology. (2004) (0)
- [Irradiation of parotid tumors during surgery]. (1965) (0)
- Human myoblast transfer: Immunological aspects (1991) (0)
- Tracer and marker techniques in the microscopic study of skeletal muscles. (1981) (0)
- [RADIUM TREATMENT OF PLASTICINDURATION OF THE PENIS AND THE PROBLEM OF RADIATION PROTECTION]. (1963) (0)
- 145 HOW NECROSIS IS DEMARCATED IN SKELETAL MUSCLE FIBERS AFTER EXPERIMENTAL MICROPUNCTURE INJURY (1984) (0)
- G.O. 8 Gene therapy trials in the ovine model of McArdle’s disease (2006) (0)
- Expression of Immunoreactive Class 1 Major Histocompatibility Complex (MHC) Determinants in Pathologic Human Skeletal Muscle Fibers (1987) (0)
- Investigation of muscle disease (2010) (0)
- [OUR EXPERIENCES WITH LIVER SCINTILLOGRAPHY: RADIOISOTOPE SCANNING OF THE LIVER]. (1964) (0)
- Book Review (1986) (0)
- Expression of immunoreactive major histocompatibility complex determinants in normal and pathological human muscles (1987) (0)
- The Role of Cereal and Plant Proteins in the World Food Supply (1985) (0)
- Disorders of Voluntary Muscle: On-line Updates (2010) (0)
- 913. Histone Deacetylase Inhibitors Improve Gene Transfer To Mature Skeletal Muscle (2006) (0)
- What happens to capillaries in de nervated muscles (1980) (0)
- Gene therapy in the dog model for Duchenne muscular dystrophy (1997) (0)
- Book Reviews (2002) (0)
- 919. Gene Therapy for Duchenne Muscular Dystrophy Using a Gutted Adenovirus Expressing Utrophin (2006) (0)
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