Michel Gustave Jules Fardeau

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Michel Gustave Jules Fardeau

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Michel Gustave Jules Fardeau's Degrees

Doctorate Neurology Sorbonne University

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Michel Gustave Jules Fardeau'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

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy (1999) (1287)
A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy (1998) (1057)
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A (1995) (944)
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy (1998) (841)
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy (1998) (612)
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy (1994) (470)
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. (2001) (469)
Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene (2000) (468)
Congenital muscular dystrophy with merosin deficiency. (1994) (461)
Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy (1995) (460)
β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12 (1995) (427)
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q (1990) (384)
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. (2002) (316)
Expression of matrix metalloproteinases 2 and 9 in regenerating skeletal muscle: a study in experimentally injured and mdx muscles. (1999) (312)
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. (1999) (302)
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. (2007) (294)
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy (1992) (259)
Mutations in dynamin 2 cause dominant centronuclear myopathy (2005) (241)
High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation (2000) (241)
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. (1995) (234)
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families (1994) (225)
Macrophagic myofasciitis: an emerging entity (1998) (220)
C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy (2007) (215)
Diagnostic criteria for facioscapulohumeral muscular dystrophy (1991) (214)
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A (1999) (208)
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. (2000) (192)
Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function (2002) (192)
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity (1995) (189)
Mutations in dynamin 2 cause dominant centronuclear myopathy. (2005) (188)
A recessive form of central core disease, transiently presenting as multi‐minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene (2002) (186)
Effect of latissimus dorsi dynamic cardiomyoplasty on ventricular function. (1988) (186)
MUSK, a new target for mutations causing congenital myasthenic syndrome. (2004) (184)
Calpainopathy-a survey of mutations and polymorphisms. (1999) (181)
Distinct muscle imaging patterns in myofibrillar myopathies (2008) (179)
The central nervous system and carbon monoxide poisoning. II. Anatomical study of brain lesions following intoxication with carbon monixide (22 cases). (1967) (179)
Desmin‐related myopathy with mallory body–like inclusions is caused by mutations of the selenoprotein N gene (2004) (177)
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. (2013) (174)
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. (1996) (174)
Severe childhood muscular dystrophy affecting both sexes and frequent in tunisia (1983) (167)
Loss of Calpain 3 Proteolytic Activity Leads to Muscular Dystrophy and to Apoptosis-Associated Iκbα/Nuclear Factor κb Pathway Perturbation in Mice (2000) (163)
Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A. (1998) (161)
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (2009) (161)
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies (1990) (154)
Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). (1998) (151)
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. (2001) (150)
Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy. (2004) (149)
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. (2003) (149)
Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparing (1995) (148)
Cognitive functions in duchenne muscular dystrophy: A reappraisal and comparison with spinal muscular atrophy (1992) (146)
Nuclear inclusion in oculopharyngeal dystrophy (2004) (136)
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy (2001) (134)
Effect of 1-year oral administration of dehydroepiandrosterone to 60- to 80-year-old individuals on muscle function and cross-sectional area: a double-blind placebo-controlled trial. (2003) (134)
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. (1997) (132)
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset (2007) (132)
Oculopharyngeal muscular dystrophy. (1999) (127)
The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13 (1995) (123)
Juvenile and adult-onset acid maltase deficiency in France (2000) (120)
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. (1995) (120)
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). (1997) (115)
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. (1997) (114)
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. (2006) (112)
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy (2013) (110)
Nuclear inclusions in oculopharyngeal dystrophy. (1980) (107)
Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy (1997) (104)
Regeneration of skeletal muscle fibers from autologous satellite cells multiplied in vitro. An experimental model for testing cultured cell myogenicity (1989) (104)
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A. (1999) (104)
Multi‐minicore disease–searching for boundaries: Phenotype analysis of 38 cases (2000) (103)
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization (2011) (103)
“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy (2009) (102)
Storage of phosphorylated desmin in a familial myopathy (1988) (99)
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. (2000) (99)
Phosphorus NMR spectroscopy study of muscular enzyme deficiencies involving glycogenolysis and glycolysis (1987) (95)
Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy (1998) (95)
Clinical and histologic findings in autosomal centronuclear myopathy (2004) (94)
CORE-ROD MYOPATHY CAUSED BY MUTATIONS IN THE NEBULIN GENE (2009) (92)
Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease (1999) (91)
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies (2007) (91)
Morphometric analysis of mdx diaphragm muscle fibres. Comparison with hindlimb muscles (1993) (89)
Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. (2001) (88)
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy (1999) (88)
Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. (2000) (88)
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein. (1996) (88)
Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin. (1993) (84)
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. (1998) (84)
A homologue of dystrophin is expressed at the neuromuscular junctions of normal individuals and DMD patients, and of normal and mdx mice Immunological evidence (1991) (83)
Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance (1998) (83)
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. (2014) (82)
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region. (1995) (81)
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia (2009) (79)
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene (2008) (79)
Myoblast transplantation between monozygotic twin girl carriers of Duchenne muscular dystrophy (1993) (79)
Comparison between the growth pattern of cell cultures from normal and Duchenne dystrophy muscle (1984) (77)
Chromosome 15-linked limb-girdle muscular dystrophy: Clinical phenotypes in Reunion Island and French metropolitan communities (1996) (76)
Muscle and joint elastic properties during elbow flexion in Duchenne muscular dystrophy (2001) (75)
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype (2014) (73)
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy (2017) (72)
Late‐onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation (2001) (71)
Distribution of acetylcholinesterase molecular forms in neural and non‐neural sections of human muscle (1979) (71)
ULTRASTRUCTURAL STUDY OF A PERIPHERAL NERVE BIOPSY IN REFSUM'S DISEASE (1969) (71)
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study (2009) (70)
Acute renal failure in McArdle's disease. Report of two cases. (1972) (70)
Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF) (1991) (69)
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 (2014) (69)
Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene (1996) (68)
Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy 22–24 April 1994, The Netherlands (1995) (68)
X‐linked vacuolated myopathy: Complement membrane attack complex on surface membrane of injured muscle fibers (1995) (66)
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7 (2010) (66)
Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region. (1996) (64)
Immunocytochemical analysis of myosin heavy chains in human fetal skeletal muscles (1986) (63)
Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis (1997) (62)
Functional Recovery Induced by Satellite Cell Grafts in Irreversibly Injured Muscles (1994) (61)
Myotilinopathy in a family with late onset myopathy (2006) (59)
Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP) (2000) (59)
Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy (1996) (59)
Scapulothoracic arthrodesis for patients who have fascioscapulohumeral muscular dystrophy. (1990) (59)
Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients (2015) (59)
Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation. (2001) (59)
Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome. (1989) (58)
[A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)]. (1978) (57)
Mutations in the Muscle Sodium Channel Gene (SCN4A) in 13 French Families with Hyperkalemic Periodic Paralysis and Paramyotonia Congenita: Phenotype to Genotype Correlations and Demonstration of the Predominance of Two Mutations (1994) (56)
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene (2007) (56)
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. (1998) (55)
de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency. (1988) (55)
RETRACTED: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification (2009) (55)
Polyneuropathy after perhexiline maleate therapy. (1976) (55)
The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies (1993) (53)
Absence of γ‐sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12 (1996) (53)
A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. (1982) (53)
EMG and nerve conduction studies in children with congenital muscular dystrophy (2004) (53)
De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins. (2011) (52)
Partial laminin alpha2 chain restoration in alpha2 chain-deficient dy/dy mouse by primary muscle cell culture transplantation (1996) (52)
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes (2003) (51)
The cost of treating COPD patients with long-term oxygen therapy in a French population. (1996) (51)
Muscle and nerve changes induced by perhexiline maleate in man and mice (1979) (49)
Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: Genetic, biochemical and morphological studies (1991) (48)
Human myotube differentiation in vitro in different culture conditions (1986) (48)
Scapulothoracic Arthrodesis in Facioscapulohumeral Muscular Dystrophy (2003) (48)
Decreased cerebral glucose utilization in myotonic dystrophy (1992) (47)
A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia (2013) (46)
Histochemical and ultrastructural study of muscle biopsies in 3 cases of dystrophia myotonica in the newborn child. (1974) (46)
Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies Part II: clinical protocol (2002) (46)
The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13. (1995) (45)
New morphologic and genetic findings in cap disease associated with β-tropomyosin (TPM2) mutations (2008) (45)
STEM CELL TRANSPLANTATION IN A PATIENT WITH LATE-ONSET NEMALINE MYOPATHY AND GAMMOPATHY (2008) (45)
Transaction costs economics as a conceptual framework for the analysis of barriers to the diffusion of telemedicine. (1997) (44)
Late-onset rod myopathy associated with monoclonal gammopathy (1993) (44)
Hereditary inclusion body myopathies. (1998) (43)
Expression of dystrophin-associated glycoproteins during human fetal muscle development: A preliminary immunocytochemical study (1994) (43)
Natural history of LGMD2A for delineating outcome measures in clinical trials (2016) (42)
Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation. (1994) (41)
Stiffness of knee extensors in Duchenne Muscular Dystrophy (1998) (40)
Expression of myosin heavy chain isoforms in Duchenne muscular dystrophy patients and carriers (1991) (40)
Dysphagia in oculopharyngeal muscular dystrophy: a series of 22 French cases (1997) (39)
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues (2017) (39)
New POMT2 mutations causing congenital muscular dystrophy (2007) (39)
Extracts of muscle biopsies from patients with spinal muscular atrophies inhibit neurite outgrowth from spinal neurons (1987) (39)
Fibronectin, laminin, type I, III and IV collagens in Duchenne's muscular dystrophy, congenital muscular dystrophies and congenital myopathies: an immunocytochemical study. (1985) (39)
Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings (1998) (38)
Chronic progressive external ophthalmoplegia with ragged-red fibers: Clinical, morphological and genetic investigations in 43 patients (1995) (38)
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. (1994) (37)
Telethonin-deficiency initially presenting as a congenital muscular dystrophy (2011) (37)
A NEW CENTRONUCLEAR MYOPATHY PHENOTYPE DUE TO A NOVEL DYNAMIN 2 MUTATION (2009) (36)
Linkage studies in facioscapulohumeral muscular dystrophy (FSHD). (1992) (36)
Localization of dystrophin and dystrophin-related protein at the electromotor synapse and neuromuscular junction in Torpedo marmorata (1992) (35)
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders. (2013) (35)
Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin. (1993) (35)
Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. (1993) (34)
Myoblast transplantation in non-dystrophic dog (1998) (34)
Juvenile‐onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene (1997) (34)
Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy (1994) (34)
[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis]. (1996) (34)
[Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency]. (1989) (33)
[Electron microscopic study of muscular lesions of neurogenic atrophy caused by injury of the anterior horn (seen in 8 cases of amyotrophic lateral sclerosis)]. (1966) (33)
80th ENMC International Workshop on Multi-Minicore Disease: 1st International MmD Workshop 12–13th May, 2000, Soestduinen, The Netherlands (2002) (32)
Myoblast transplantations lead to the expression of the laminin α2 chain in normal and dystrophic (dy/dy) mouse muscles (1999) (32)
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. (1995) (31)
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome (1999) (31)
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBa/NF-kB pathway in limb-girdle muscular dystrophy type 2A (1999) (31)
Nuclear changes in muscle disorders. (1986) (31)
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency (2003) (31)
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia (2004) (30)
Ubiquitin and β-amyloid-protein in inclusion body myositis (IBM), familial IBM-like disorder and oculopharyngeal muscular dystrophy: An immunocytochemical study (1993) (30)
Secondary metabolic defects in spinal muscular atrophy type II (1990) (30)
Prenatal detection of merosin expression in human placenta. (1994) (30)
X‐linked vacuolated myopathy: Membrane attack complex deposition on muscle fiber membranes with calcium accumulation on sarcolemma (1997) (30)
Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy (1990) (29)
Blunted coronary reserve in myotonic dystrophy. An early and gene-related phenomenon. (1996) (28)
Correlation Between Decreased Myocardial Glucose Phosphorylation and the DNA Mutation Size in Myotonic Dystrophy (1994) (28)
Charcot–Marie–Tooth features and maculopathy in a patient with Danon disease (2004) (27)
Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies Part I: rationale (2002) (27)
Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene (2006) (27)
Impaired cerebral glucose metabolism in myotonic dystrophy: a triplet-size dependent phenomenon (1998) (26)
ACTN2 mutations cause “Multiple structured Core Disease” (MsCD) (2019) (26)
Expression of a recombinant dystrophin in mdx mice using adenovirus vector (1994) (26)
Class II MHC antigens in normal human skeletal muscle (1992) (26)
Distinct contractile protein profile in congenital myotonic dystrophy and X-linked myotubular myopathy (1991) (26)
Acrylamide neuropathy and changes in the axonal transport and muscular content of the molecular forms of acetylcholinesterase (1982) (26)
Extensive morphological and immunohistochemical characterization in myotubular myopathy (2013) (26)
Ultrastructure of muscle and sensory nerve in Fabry's disease (1977) (26)
Using the full power of linkage analysis in 11 French Canadian families to fine map the oculopharyngeal muscular dystrophy gene (1997) (25)
[Proximal myotonial myopathy (PROMM): clinical and histology study]. (2001) (25)
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods (2017) (25)
Age-related morphological changes of the deltoid muscle from 50 to 79 years of age (2001) (24)
X-Linked Vacuolated Myopathy : TNF-α and IFN-γ Expression in Muscle Fibers with MHC Class I on Sarcolemma (2001) (24)
Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome (2013) (24)
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy (2017) (24)
Autosomal dominant late adult onset distal leg myopathy (1997) (24)
Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene (2014) (23)
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency (2002) (23)
[Inclusion body myositis]. (1988) (23)
X‐linked vacuolar myopathies: Two separate loci and refined genetic mapping (2000) (23)
Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency (2003) (23)
Ocular myopathies. (1985) (23)
Familial desmin-related myopathies and cardiomyopathies — from myopathology to molecular and clinical genetics: 36th European Neuromuscular Center (ENMC)-sponsored International Workshop 20–22 October, 1995, Naarden, The Netherlands (1996) (23)
Malignant hyperthermia and central core disease: Analysis of two families with heterogeneous clinical expression (1993) (23)
[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alphaB-cristallin gene]. (2000) (23)
Glucocorticoid treatment induces expression of small heat shock proteins in human satellite cell populations: consequences for a desmin-related myopathy involving the R120G alpha B-crystallin mutation (2002) (22)
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy (2020) (22)
β-sarcoglycan : Characterization and role in limb-girdle muscular dystrophy linked to 4q12 (1996) (22)
PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling (2015) (21)
Diagnosis of muscular glycogenosis by in vivo natural abundance 13C NMR spectroscopy (1991) (21)
Effect of myasthenic patient sera on the number and distribution of acetylcholine receptors in muscle and nerve-muscle cultures from rat Correlations with clinical state (1988) (21)
P-sarcoglycan : characterization and role in limb-girdle muscular dystrophy linked to 4 q 12 (2006) (21)
Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia (1992) (21)
Morphological study of peripheral nerve changes induced by chloroquine treatment (2004) (20)
X-linked vacuolated myopathy : TNF-alpha and IFN-gamma expression in muscle fibers with MHC class I on sarcolemma. (2001) (20)
[True muscular hypertrophy secondary to peripheral nerve disorder. Clinical and histological study in a case of calf hypertrophy induced by sciatica]. (1973) (20)
121st ENMC International Workshop on Desmin and Protein Aggregate Myopathies. 7–9 November 2003, Naarden, The Netherlands (2004) (20)
Morphological and functional study of extensor digitorum longus muscle regeneration after iterative crush lesions in mdx mouse (1995) (20)
Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy (2002) (19)
Adult onset reducing body myopathy (1999) (19)
Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochrome c oxidase deficiency in skeletal muscle (1989) (19)
THE PERMEABILITY OF THE BASAL LAMINA AT THE NEUROMUSCULAR JUNCTION. AN ULTRASTRUCTURAL STUDY OF RAT SKELETAL MUSCLE USING PARTICULATE TRACERS (1983) (18)
Myofibrillar myopathies. (2013) (18)
Changes in surface morphology and basal lamina of cultured muscle cells from Duchenne muscular dystrophy patients (1990) (18)
Exercise intolerance in patients with McArdle's disease or mitochondrial myopathies. (1992) (18)
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. (2016) (18)
Congenital myopathy with “reducing bodies” in muscle fibres (2004) (18)
Role of persisting basement membrane in the reorganization of myofibres originating from myogenic cell grafts in the rat (1991) (17)
Oculopharyngeal muscular dystrophy in France (1997) (17)
[Electron microscopic study of a peripheral nerve biopsy specimen in four cases of Dejerine-Sottas hypertrophic neuritis]. (1966) (17)
[Myopathy with mitochondrial abnormalities localizated in type I fibers. Clinical, histochemical and ultrastructural data apropos of a diffuse atrophic form with ocular onset]. (1972) (16)
Diagnostic workup for neuromuscular diseases. (2013) (16)
156th ENMC International Workshop: Desmin and protein aggregate myopathies, 9–11 November 2007, Naarden, The Netherlands (2008) (16)
[Clinical and electrophysiologic study of the peripheral nerve in 28 cases of mitochondrial disease]. (1991) (16)
VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification (Retracted article. See vol. 142, pg. 984, 2010) (2009) (16)
From adhalinopathies to alpha-sarcoglycanopathies: An overview (1996) (16)
Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in merrf syndrome (1992) (16)
Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus. (2005) (16)
[Clinical and metabolic study of a case of Eulenburg's congenital paramyotonie. Ultrastructural data concerning the muscle biopsy]. (1966) (16)
Social identity and the International Classification of Handicaps: an evaluation of the consequences of facioscapulohumeral muscular dystrophy. (1992) (16)
Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation (2004) (15)
NADH measured by laser fluorimetry in skeletal muscle in McArdle's disease. (1987) (15)
Familial disorder of the central and peripheral nervous systems with particular cytoplasmic lamellated inclusions in peripheral nerves, muscle satellite cells, and blood capillaries (2004) (15)
In vitro myotrophic effect of serum kappa chain immunoglobulins from a patient with kappa light chain myeloma and muscular hypertrophy. (1986) (15)
Desmin – Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14–16 September 2001, Naarden, The Netherlands (2002) (14)
[Congenital desproportion of various types of muscle fiber, with relative small size of type I fibers. Morphological documents on muscle biopsies in 3 members of the same family]. (1975) (14)
[Presence of dystrophine-like protein at the neuromuscular junction in Duchenne muscular dystrophy and in "mdx" mutant mice]. (1990) (14)
Clinical, histological, and genetic characterization of PYROXD1-related myopathy (2019) (13)
Elevated levels of complement components C5 and C9 and decreased antitrypsin activity in the serum of patients with X‐linked vacuolated myopathy (1996) (13)
[Anatomo-clinical study of a case of "ophthalmoplegia plus" with analysis of muscular, central nervous, ocular, myocardial, and thyroid lesions]. (1977) (13)
A New Mutation in the HEXA Gene Associated With a Spinal Muscular Atrophy Phenotype (1995) (13)
Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort. (2018) (13)
Familial fingerprint body myopathy. (1976) (13)
Infantile familial cardiomyopathy due to mitochondrial complex I and IV associated deficiency (1993) (12)
Desmin in myology 24th European Neuromuscular Center-sponsored workshop held 5–6 November 1993, Naarden, The Netherlands (1995) (12)
The risk of diabetic control: A comparison of hospital versus general practice supervision (1982) (12)
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience]. (2013) (12)
[Diagnostic contribution of computer tomography in muscular pathology]. (1985) (12)
Acute Asymmetrical Neuritis Associated with Rapid Ultrafiltration Dialysis (1972) (11)
A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy. (1997) (11)
Retraction Notice to: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification (2010) (11)
Ultrastructural study of a muscle biopsy in a case of GM1 gangliosidosis type I. (1976) (11)
[Oculopharyngeal muscular dystrophy. A census of French families and genealogic study]. (1990) (11)
Congenital neuromuscular disorder with predominant mitochondrial changes in type II muscle fibers. (1981) (10)
[Ultrastructure of skeletal muscle fibers (I)]. (1969) (10)
Genealogical study of oculopharyngeal muscular dystrophy in France (1997) (10)
["MELAS" (A3243G) mutation of mitochondrial DNA: a study of the relationships between the clinical phenotype in 19 patients and morphological and molecular data]. (2000) (10)
Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients. (1997) (10)
[Centromuclear myopathy with late clinical manifestations. Clinical, histological and ultrastructural study of a new case]. (1976) (10)
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation (2011) (10)
[Exploration of exercise intolerance by 31P NMR spectroscopy of calf muscles coupled with MRI and ergometry]. (2003) (10)
[Severe cardiomyopathy revealing amylopectinosis. Two cases in adolescents from the same family]. (1994) (10)
Myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a clinico-pathological entity (2010) (10)
A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies (1999) (9)
Myopathie lipidique avec cardiomyopathie sévère par déficit généralisé en carnitine. Evolution favorable sous un traitement par chlorhydrate de carnitine. (1979) (9)
Morphological studies of skeletal muscle in lactic acidosis (1996) (8)
A clinical and pathological study of a case of alternating and recurrent external ophthalmoplegia with amyotrophy of the limbs observed for forty-five years; discussion of the relationship of this condition with myasthenia gravis. (1965) (8)
Immunohistochemical analysis of muscle cytochromec oxidase deficiency in children (2005) (8)
[Cardiac involvement in certain muscular diseases. Apropos of 216 cases]. (1993) (8)
FINE-MAPPING THE GENE FOR X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY (2008) (8)
Assessment of a symptomatic Duchenne muscular dystrophy carrier 20years after myoblast transplantation from her asymptomatic identical twin sister (2013) (8)
[Inclusion body myositis: clinical, morphological and virological study of a new case associated with scleroderma and Klinefelter's syndrome (author's transl)]. (1980) (8)
[The leukoencephalopathies caused by carbon monoxide poisoning. Study of sixteen anatomo-clinical observations]. (1966) (7)
[RHYTHMIC SKELETAL MYOCLONUS WITHOUT NYSTAGMUS OF THE VELUM. ANATOMO-CLINICAL STUDY WITH PRESENTATION OF A CINEMATOGRAPHIC FILM]. (1963) (7)
Linkage analysis of French families with facioscapulohumeral muscular dystrophy. (1989) (7)
Identification of muscle-specific calpain and β-sarcoglycan genes in progressive autosomal recessive muscular dystrophies (1996) (7)
[Nerve growth factors: a hypothesis on their role in the pathogenesis of infantile spinal amyotrophies]. (1988) (7)
Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies Part III. Ethical considerations (2002) (7)
[Miyoshi distal myopathy: specific signs and incidence]. (2000) (7)
Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK. (2005) (7)
X‐linked vacuolated myopathy: Membrane attack complex deposition on the surface membrane of injured muscle fibers is not accompanied by S‐protein (1998) (7)
Skeletal muscle involvement in human immunodeficiency virus infection (2004) (6)
[Volitional dyskinesia of position suppressed by thalamocapsular coagulation]. (1960) (6)
[Apparently idiopathic primary myocardiopathies in children. The role of metabolic etiology]. (1987) (6)
Immunohistochemical demonstration of fibre type-specific isozymes of cytochrome c oxidase in human skeletal muscle (2006) (6)
„Fingerprint inclusions” in muscle fibres in dystrophia myotonica (1973) (6)
NERVE AND MUSCLE CHANGES INDUCED BY REPEATED LOCALIZED FREEZINGS OF THE SCIATIC NERVE IN THE RAT (1978) (6)
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation (2014) (5)
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3‐related type 1 pontocerebellar hypoplasia (2018) (5)
Regeneration of skeletal muscle induced by satellite cell grafts. (1990) (5)
[Exercise intolerance caused by muscular phosphorylase kinase deficiency. Contribution of in vivo metabolic studies]. (1996) (5)
[About a phase I gene therapy clinical trial with a full-length dystrophin gene-plasmid in Duchenne/Becker muscular dystrophy]. (2005) (5)
Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia (1988) (5)
Protein 4.1R expression in normal and dystrophic skeletal muscle. (2005) (5)
[Autosomal recessive severe, proximal myopathy in children, common in Tunisia]. (1983) (5)
P2.18 A novel missense FLNC mutation causes arrhythmia and late onset myofibrillar myopathy with particular histopathology features (2010) (5)
[Myopathy with tubular aggregates. Clinical, biological and histological study of 2 cases]. (1985) (5)
Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy (2015) (5)
[Effort-induced malignant hyperthermia. Electromyographic anomalies with a myogenic component. 10 cases]. (1983) (4)
Congenital muscular dystrophies (1997) (4)
[Functional imaging of human muscle]. (1998) (4)
Double staining of the muscle fibers and interstitial tissue components for automatic analysis of muscle biopsies (1984) (4)
The Syndrome of Arthrogryposis and Palatoschisis (SAP) in Charolais cattle; Abnormal motor innervation and defect in the focalization of 16 S acetylcholinesterase in the end-plates rich regions of the muscle (1979) (4)
Physical state abnormality of erythrocyte membrane in myotonic dystrophy: a spin label study. (1987) (4)
[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene]. (2005) (4)
Primary adhalinopathy (α‐sarcoglycanopathy) (1997) (4)
233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017 (2018) (4)
[Refsum's disease. Histological, ultrastructural and biochemical study of a peripheral nerve biopsy. Addendum to the report of 1966]. (1970) (3)
Diagnostic value of the evaluation of the glycogen content in muscle diseases by carbon 13 nuclear magnetic resonance (1995) (3)
Etiology and pathogenesis of the muscular dystrophies. (1995) (3)
Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia (2013) (3)
[Histopathologic aspects of polymyositis and dermatomyositis. Correlation with the clinical course. Study of 57 cases]. (1989) (3)
[Birth and metamorphosis of Landouzy-Dejerine progressive atrophic myopathy]. (1982) (3)
[TAY-SACHS DISEASE WITH EXTENSIVE DAMAGE OF THE WHITE MATTER. APROPOS OF 2 ANATOMO-CLINICAL CASES]. (1963) (3)
[Remarkably early onset of infantile schizophrenia with obsessional manifestations]. (1956) (3)
[Neonatal findings in Thomson's disease, with particular affection of the respiratory muscles. Ultrastructural data concerning muscular biopsy]. (1967) (3)
[Recent findings on the genealogy, clinical aspects and histology of a family with periodic hyperkalemic paralysis]. (1978) (3)
[Clinical recovery from Isaacs' syndrome]. (1986) (3)
[Simultaneous staining of the terminal motor innervation and the sub-neural apparatus (S. Manolov's technic). Importance for diagnosis in neuro-muscular pathology]. (1964) (3)
[In vivo P-31 NMR spectroscopy study of muscle metabolism in disease and under the influence of drugs]. (1987) (2)
Plasminogen Activator (PA) in Muscle, Its Activation Post-Denervation (1986) (2)
[Lipidic myopathy with severe cardiomyopathy caused by a generalized carnitine deficiency. Favourable course during carnitine hydrochloride treatment]. (1979) (2)
[Respiratory chain diseases in infancy. Clinical presentation and diagnosis]. (1989) (2)
[Juvenile GM2 gangliosidosis with progressive spinal muscular atrophy onset]. (1997) (2)
[Eaton-Lambert myasthenic syndrome: clinical, electrophysiologic, histological and ultrastructural study]. (1977) (2)
[Technic and results of the study of motor plates in the pathology of skeletal muscle]. (1960) (2)
[The effect of serum from a patient with myeloma and diffuse muscular hypertrophy on the growth of human muscle cells in culture]. (1984) (2)
[Role of electron microscopy in peripheral nerve pathology (author's transl)]. (1978) (2)
[Congenital selective hypotonia of type I muscular fibers. Apropos of 2 cases]. (1971) (2)
[Acute carbon monoxide poisoning. Anatomic study of an unusual encephalopathy caused by the diffusion of necrotic lesions and the importance of calcium deposits]. (1971) (2)
[Congenital myasthenic syndromes; French experience]. (2014) (2)
[Marfan's disease and familial neuropathy with sausage-shaped swelling. A case of fortuitous association]. (1986) (2)
[Mitochondrial function and mitochondrial DNA in a series of 64 patients suspected of having mitochondrial myopathy]. (1991) (2)
[Neuropathy due to chloroquine in lupus erythematosus. 2 recent cases, emphasizing the necessity for ultrastructural study of the muscle biopsy]. (1976) (2)
[Syringe-trocar for cortical biopsy. Application to electron microscopy]. (1967) (2)
Mutations in GFPT 1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregates myopathy with synaptopathy (2017) (2)
G.P.1.02 Phenotypic spectrum of core-rod myopathy caused by dominant or recessive RYR1 mutations (2009) (2)
[Iatrogenic myopathies. I. Neuromyopathy due to antimalarials (apropos of 2 cases)]. (1965) (2)
Intracranial arachnoid cysts in myotonic dystrophy (2004) (2)
[Study of a new observation of "nemaline myopathy". II. Ultrastructural findings]. (1969) (2)
UvA-DARE ( Digital Academic Repository ) Calpainopathy : a survey of mutations and polymorphisms (1999) (1)
[Recollections on the centenary of the death of Vulpian (5 January 1826-18 May 1887)]. (1988) (1)
[Distal and congenital myopathy with hypertrophy of the calves. Presence of mitochondrial anomalies]. (1972) (1)
D.P.3.02 Desminopathies: What can we learn from a long term follow-up? (2008) (1)
P.152 ACTA1-related nemaline myopathy: Reappraisal of the histopathological findings (2016) (1)
Reply: “Necklace” fibers and “trilaminar” fibers are different (2009) (1)
Automatically identifying a program including a sound signal (1992) (1)
G.P.342 Novel histopathological phenotypes associated with TPM2 and TPM3-related congenital myopathies (2015) (1)
Hypokalemic Periodic Paralysis andtheDihydropyridine Receptor (CACNLIA3):Genotype/Phenotype Correlations forTwo Predominant Mutations andEvidence fortheAbsenceofa Founder Effect in16Caucasian Families (1995) (1)
[Neural determinations of Hand-Schuller-Christian disease. (Study of an anatomo-clinical case)]. (1966) (1)
Scanning electron microscopic study of nerve-muscle junctions in embryonic rat cell cultures. (1984) (1)
[Economic analysis of the dissemination of a medical innovation: prenatal diagnosis by early amniocentesis as an example. Part 2. Facilitating decision making in public health for optimal dissemination of an innovation]. (1984) (1)
Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene (1988) (1)
Ultrastructure of muscle and neuromuscular junction: an historical survey of the early french contributions (1994) (1)
C.P.4.02 Muscle imaging differentiates primary desminopathies from myofibrillar myopathies (2007) (1)
G.P.8 11 Towards the identification of new morphological subtypes of congenital myopathy (2006) (1)
FKRP (FuKutin Related Protein) gene mutations associated with intermediate phenotype between CMD Type 1C and LGMD2I (2002) (1)
[Eulenburg's congenital paramyotonia. Clinical, biological, histological and ultrastructural study of a further familial case]. (1971) (1)
Distal myopathy of Miyoshi type: report of 21 French cases (1997) (1)
[Neonatal hypotonias with congenital disproportion of various types of muscular fiber, especially type I fibers. Demonstration of the familial character of this new entity]. (1975) (1)
Seringue-trocart pour biopsie corticale. Application à la microscopie électronique. (1967) (1)
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype (2014) (1)
Chromosome 15-linked limb girdle muscular dystrophy — clinical phenotype (1996) (1)
Genetic characterisation of multi-minicore disease: identification of a first locus and evidence for genetic heterogeneity (2001) (1)
[Periodic palsies and myotonias are ion channel diseases]. (1996) (1)
Congenital muscular dystrophies. A short review of the recent progresses. (1999) (1)
Some orthodox or non-orthodox considerations on congenital myopathies. (1987) (1)
[Histochemical study of normal, denervated, self and cross-reinnervated anterior and posterior latissimus dorsi muscles of the chicken]. (1973) (1)
AcuteAsymmetrical Neuritis Associated withRapid Ultrafiltration Dialysis (1972) (1)
Les leuco-encphalopathies de l'intoxication oxycarbone: Etude de seize observations anatomo-cliniques (1966) (1)
[Intrinsic muscles of the human larynx. Histoenzymological characteristics of the muscle fibers]. (1983) (1)
Desminopathies : What can we learn from a long term follow-up? (2008) (1)
The Enigma of Muscle Contractures (1999) (1)
Immunofluorescence and Western blot analysis on human skeletal muscle using antibodies directed against different regions of the muscle-specific calpain (1997) (0)
NEW GENES AND DISEASES EP.301 The alpha2-subunit of the AP2 clathrin adaptor as the causal gene in an atypical myopathy with granulofilamentous inclusions (2021) (0)
Neuromuscular disease : muscle opyright (2013) (0)
[Contribution of histoenzymologic techniques in muscle pathology]. (1980) (0)
O.22 Autosomal dominant Core Congenital Myopathy caused by a mutation in the MYH7 gene (2013) (0)
UGI Endoscopy vs. Radiography (1981) (0)
[Acid maltase deficiency with diaphragmatic paralysis and respiratory insufficiency in adults]. (1982) (0)
Cell biology of muscle conditioning (2005) (0)
[Electromyographic and histopathological study of the Lambert-Eaton myasthenia syndrome. Apropos of a case]. (1980) (0)
Partial laminin-2 restoration by primary muscle cell culture transplantation in dystrophic (dydy) mouse (1996) (0)
Method and apparatus for automatically identifying a a tone-containing Programs (1992) (0)
P3.34 Correlation of morphological features of skeletal muscle biopsy with the gestational age of newborns with X-linked Myotubular myopathy, and comparison with the muscle pathology of myotubularin1-deficient mice (2011) (0)
[Effect of the serum of a patient affected by myeloma with diffuse muscular hypertrophy on the growth of human muscle cells in vitro]. (1985) (0)
Biochemical and genetic investigations in eleven cases of mitochondrial myopathies (1991) (0)
Linkage analysis offamilies withsevere childhood autosomal recessive muscular dystrophy inMoroccoindicates genetic homogeneity ofthedisease inNorthAfrica (1994) (0)
Immunohistochemical and ultrastructural findings in myofibrillar myopathies (2008) (0)
Increasing the Length of the Latissimus Dorsi Muscle Pedicle to Enhance the Efficacy of Cardiomyoplasty (2002) (0)
Genetic, allelic and phenotypic heterogeneity of muscular dystrophies with primary and secondary involvement of adhalin (alpha-sarcoglycan) (1996) (0)
[The study of motor plates by the muscle biopsy technic]. (1959) (0)
Muscle histopathology in nebulin-related nemaline myopathy Malfatti (0)
[About the technique of muscle biopsy (IV). The advent of histochemistry and cytoenzymology in the analysis of muscle biopsies. A short and personal historical overview]. (2017) (0)
[Methodological approaches of a social budget of disability]. (1994) (0)
DNA mutation size in myotonic dystrophy Correlation between decreased myocardial glucose phosphorylation and the (2011) (0)
[Myoglobinuria caused by McArdle's disease complicated by anuric acute renal failure]. (1972) (0)
SEPN1 mutations cause classical multi-minicore disease: reappraising the nosology of early-onset myopathies (2002) (0)
[Historical review on the researches on muscular dystrophies]. (2006) (0)
Together including taking stakes and possibly the determination of winners in a game such as a national lotto game (1978) (0)
[Left hemiathetosis, sequel of encephalitis of early childhood]. (1956) (0)
Penetrance of the FSHD mutation differs according to the D4Z4 repeat number (1997) (0)
Identification of first Swiss desminopathy families using systematic muscle imaging in myofibrillar myopathies (2008) (0)
Chapter 24 Congenital muscular disorders (2003) (0)
[Finding of red-brown coloration of the nails in a case of acute intermittent porphyria]. (1969) (0)
C.P.4.09 Dynamin 2 mutations in the pleckstrin homology domain cause severe neonatal centronuclear myopathy (2007) (0)
Method for transforming an initial video image of multiple gray levels into a binary image type. (1987) (0)
Preferential Localization oftheLimb-Girdle Muscular Dystrophy (1995) (0)
[Spatial disorganisation of myofibrills, sarcomers and myofilaments in the peripheral zone of pathological muscle fibres, studied with electron microscope]. (1968) (0)
Humoral immune reaction at endplate in seronegative myasthenic patients: immunostaining study in muscular biopsies (1994) (0)
P.12.6 Congenital myasthenic syndromes: Diagnosis difficulties, course and prognosis, and therapy – The French CMS network experience (2013) (0)
Familial myopathy with desmin overload manifesting as a granulo-filamentous, electron-dense material associated with mutations of the alpha B-cristallin gene 41 references. (2008) (0)
Clinical, histological, and genetic characterization of PYROXD1-related myopathy (2019) (0)
Acetylcholinesterase (AChE) deficiency: a new case (1994) (0)
Novosti u kliničkoj genetici: multidisciplinarni pristup dijagnostici, terapiji i prevenciji okulofarinegealne mišićne distrofije (OPMD) (2005) (0)
[Nemaline myopathy. Clinical, histological, ultrastructural and anatomical data concerning a new case with fatal course due to respiratory insufficiency]. (1973) (0)
FILAMENTOUS INCLUSIONS IN SCHWANN CELL NUCLEI (1978) (0)
Jules and Augusta Dejerine: Crossing biographies☆ (2017) (0)
Autosomal dominant late adult onset distal myopathy (1997) (0)
Free Communications (1988) (0)
[Note on the development of muscular lesions observed during prolonged chloroquine treatment, after cessation of the drug]. (1965) (0)
The method and apparatus of an audio signal-containing automatic identification program (1992) (0)
Automatic gas cylinder shape checking system - utilises measurement of separation between two focussed light spots from beam aimed at cylinder profile (1981) (0)
Survey of LGMD2A mutations (1996) (0)
P1.47 Retrospective analysis of 309 muscle biopsies performed exclusively during the neonatal period (2010) (0)
G.P.8 12 Centronuclear myopathy: clinical and morphological phenotype/genotype correlations (2006) (0)
Mutations in MUSK cause congenital myasthenic syndrome (2006) (0)
D.P.3.01 Immunohistochemical and ultrastructural findings in myofibrillar myopathies (2008) (0)
[Muscular regeneration by autograft of in vitro multiplied satellite cells]. (1987) (0)
[Economic stakes and prescription of iodinated contrast media]. (1995) (0)
Congenital myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a new clinico-pathological entity (2010) (0)
[Poikilo-dermatomysitis in children. Apropos of a case with rare ocular manifestations]. (1959) (0)
Proceedings: Hyperthyroidism without hypermetabolism in two cases of diffuse muscular atrophy. (1975) (0)
A method of controlling the shape of a body of revolution, for example, a gas bottle, and apparatus for carrying out the method (1982) (0)
[Modifications in the type distribution of muscle fibers induced by repeated local freezings the rat sciatic nerve]. (1978) (0)
Ophtalmoplégie externe progressive et thyroïdite de Hashimoto. (1983) (0)
C.O.7 Cap disease associated with mutations in the β-tropomyosin gene (TPM2) (2007) (0)
computer system data archiving and consultation, and corresponding interface circuit (1989) (0)
[Cost-effectiveness study of 2 long-term home oxygen therapy management systems]. (1997) (0)
[CONTRIBUTION TO THE STUDY OF ELEMENTARY LESIONS OF SKELETAL MUSCLE: ULTRASTRUCTURE OF THE ANNULAR FIBERS (OBSERVED IN DYSTROPHIA MYOTONICA)]. (1964) (0)
[The diagnostic role of electronic microscopy in myopathology]. (1982) (0)
Abnormal proteins in congenital muscular dystrophies (1996) (0)
[Data obtained from an anatomopathological examination of the skeletal muscles in myasthenia]. (1961) (0)
Neuromuscular disease: muscle. (2013) (0)
P.286 Further insights in nemaline myopathy (NM) with hyaline masses (2017) (0)
Systeme informatique d'archivage et de consultation de donnees, et circuit d'interface correspondant (1989) (0)
Method and device determining the number of persons present in a determined space (1987) (0)
G.P.264 Congenital myopathies with protein aggregates and inclusions: importance of extensive muscle biopsy analysis in the diagnostic workup (2014) (0)
[Histopathological aspects of progressive muscular dystrophies. The place of classical histological techniques in their diagnosis]. (1973) (0)
Method and device for reading a bar code on a substantially stationary support (1988) (0)
Phenotype, Genetics and Natural History in 146 Patients with SEPN1-Related Myopathy: On the Way to Therapeutic Trials in a Rare Disorder (2011) (0)
[Economic analysis of the dissemination of a medical innovation: prenatal diagnosis by early amniocentesis as an example. Part 1. Epidemiologic, medical and socioeconomic bases. The dissemination of a diagnostic innovation]. (1984) (0)
Nucleic Acids Research Mapping of heteroplasnic mitochondrial DNA deletions in Kearns-Sayre syndrome (0)
[From clinical medicine to molecular genetics: the new outlook of hereditary muscular dystrophies]. (2002) (0)
[Multidiscipline aspects and approach to the evaluation of care for diabetics]. (1982) (0)
G.O. 10 Dynamin 2 mutations and impairment of EGF-induced MAPK activation (2006) (0)
[About the technique of muscle biopsy - A historical flash-back on the technique of muscle biopsie]. (2015) (0)
[Cytochemical and ultrastructural characteristics of different types of extra-fusal skeletal muscle fibres (in man and certain mammals)]. (1973) (0)
P2.37 Long term prognosis of congenital myasthenic syndromes (CMS): The French CMS network experience (2010) (0)
C.O.2 Efficacy of autologous stem cell transplantation in a patient with late-onset nemaline myopathy and monoclonal gammopathy (2007) (0)
“dark necklace” fibers myopathy, a peculiar morphological pattern of congenital myopathy (2008) (0)
Method and apparatus for automatically identifying a program with an acoustic signal. (1992) (0)
Myopalladin recessive mutations cause congenital cap myopathy (S54.007) (2017) (0)
[Primary cardiac amylosis. Its diagnosis in vivo (2 further cases)]. (1970) (0)
[ON A PARTICULIAR TYPE OF CHANGES IN MYOFIBRIL STRUCTURE ENCOUNTERED IN 5 CASES OF PROGRESSIVE MUSCULAR DYSTROPHY]. (1964) (0)
Congenital myasthenic syndrome caused by decreased receptor channel openings due to a novel mutation in the nicotinic acetylcholine receptor epsilon-subunit (2005) (0)
[Cellular therapy and gene therapy: perspectives in neuromuscular pathology]. (1993) (0)
[Histochemical characterization of the tonic fibers in the flexor carpi radialis muscle of frogs (Rana temporaria, L.)]. (1978) (0)
[The neuromuscular junction in myasthenia. Human and experimental morphological data (author's transl)]. (1980) (0)
13C and 31P NMR for the diagnosis of muscular phosphorylase-kinase deficiency (1998) (0)
P.156 Exome sequencing identifies a novel MYH7 mutation in a patient with nemaline myopathy and cardiomyopathy (2016) (0)
P.113Phenotype, genetics and natural history in 131 SEPN1-related myopathy patients: towards clinical trial readiness (2019) (0)
[Progressive external ophthalmoplegia of mitochondrial origin: contribution of morphological and molecular studies]. (1997) (0)
Ventricular Function (2005) (0)
Problems with NMR spectroscopy in human metabolic myopathies (1988) (0)
CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA P.66Congenital myasthenic syndromes: how do clinicians face diagnostic complexity and long-term prognosis in 2018? (2018) (0)
Method and system for sorting objects bearing inscriptions such as postal items, checks, money orders (1989) (0)
Mutational diversity andhotspotsinthe u-sarcoglycan gene inautosomal recessive muscular dystrophy (LGMD2D) (2011) (0)
CONGENITAL MYOPATHIES: GENERAL AND RYR1 P.45A new congenital myopathy with multiple structured cores (2018) (0)
Device intended holder has electrodes being implanted in a living being (1984) (0)
G.P.13.14 A new form of congenital myopathy with severe fibre immaturity (2008) (0)
[Neuromuscular junction. History and present-day knowledge]. (1975) (0)
[Sylvian artery thrombosis during infection by a neorickettsial strain (Bedsonia group) of bacteria]. (1969) (0)
Corrigendum to ‘Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome’ [Neuromuscul Disord 23 (2013) 998–1009] (2014) (0)
Dihydropyridine receptor ( DHPR ) congenital myopathy (2018) (0)
[About the technique of muscle biopsy (III). The contribution of elctron microscopy, yesterday, and at the time of the molecular genetics era. A historical overview]. (2016) (0)
238 Treatment of lower limbs in dystrophy Duchenne De Boulogne in children (1999) (0)
[First-line exploration: fiberoptic gastroscopy or barium meal? A pragmatic evaluation (author's transl)]. (1981) (0)
P.9.7 Skeletal muscle biopsy reappraisal in nebulin-related nemaline myopathy (2013) (0)
P.291 Recessive myopalladin mutations cause congenital cap myopathy with unusual rods (2017) (0)
A NEW MUTATION INVOLVED IN B1 VARIANT OF CHRONIC GM(2) GANGLIOSIS (1994) (0)
New in clinical genetics: multidisciplinary approach to diagnostics, therapy and prevention of oculopharyngeal muscular dystrophy (OPMD) (2004) (0)
Short Communication X-Linked Vacuolated Myopathy TNF- a and IFN- g Expression in Muscle Fibers with MHC Class I on Sarcolemma (2001) (0)
[Ultrastructure of skeletal muscular fibres. II]. (1969) (0)
Exercise Intolerance in Calpain Deficiency and in α-Sarcoglycanopathy (1999) (0)
P.1.21 Congenital muscular dystrophy phenotype with excess of neuromuscular spindles in a 5-year old girl (2013) (0)
Congenital myopathies: basic concepts and classification (1997) (0)
My three L's. (2003) (0)
G.P.269 CAP-disease not-related to ACTA1, TPM2 or TPM3 genes (2014) (0)
[Progressive external ophthalmoplegia and Hashimoto's thyroiditis]. (1983) (0)
[Ultrastructural study, after demonstration on histological or "semi-fire" sections, of deposits observed in human primary amyloidosis]. (1969) (0)
Mapping ofheteroplasnic mitochondrial DNAdeletions inKearns-Sayre syndrome (1989) (0)
Inclusion body myositis. (1981) (0)
[Myoglobinuria caused by McArdle's disease complicated by anuric acute renal insufficiency]. (1972) (0)
Partial Laminin ct2 Chain Restoration in ct2 Chain-deficient dy/dy Mouse by Primary Muscle Cell Culture Transplantation (2002) (0)
G.P.120 FHL1-related Reducing Body Myopathy and Emery–Dreifuss muscular dystrophy: A comparative histoenzymological, immunohistochemical and ultrastructural study (2012) (0)
C.P.3.03 Novel POMT2 mutations associated with a marked reduction of POMT activity causing congenital muscular dystrophy with mental retardation and microcephaly (2007) (0)
Cylindrical Spirals Congenital Myopathy Associated with Epileptic Encephalopathy (P07.050) (2013) (0)
Method for transforming an original image type video has multiple gray levels into a binary image (1986) (0)
[Muscular reconstruction by myogenic cell graft]. (1994) (0)

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