M. Fardeau

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Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.

N. Romero, L. Viollet, J. Leroy, 2003, Brain : a journal of neurology.

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

K. Claeys, A. Laquérriere, N. Romero, 2011, Neuropathology and applied neurobiology.

Mutations in dynamin 2 cause dominant centronuclear myopathy

A. Beggs, N. Romero, H. Lochmüller, 2005, Nature Genetics.

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

J. Rommens, J. Bouchard, B. Brais, 1998, Nature Genetics.

Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy

A. Helbling-Leclerc, M. Fardeau, F. Tomé, 1997, Neuromuscular Disorders.

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

F. Muntoni, D. Toniolo, H. Bécane, 1999, Nature Genetics.

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, Charles E Jackson, Mayana Zatz, 1995, Cell.

Muscle and joint elastic properties during elbow flexion in Duchenne muscular dystrophy

F Goubel, F. Goubel, C. Cornu, 2001, The Journal of physiology.

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.

E. Bertini, C. Wallgren‐Pettersson, J. Mandel, 1997, Human molecular genetics.

Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency

G. Bassez, P. Carlier, P. Laforêt, 2003, Neuromuscular Disorders.

Muscle and nerve changes induced by perhexiline maleate in man and mice

M. Fardeau, F. Tomé, P. Simon, 1979, Muscle & nerve.

DNA mutation size in myotonic dystrophy Correlation between decreased myocardial glucose phosphorylation and the

P. Merlet, B. Mazoyer, B. Eymard, 2011 .

Stiffness of knee extensors in Duchenne Muscular Dystrophy

F Goubel, F. Goubel, C. Cornu, 1998, Muscle & nerve.

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

D. Figarella-Branger, N. Romero, J. Pouget, 2013, American journal of human genetics.

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

E. Malfatti, N. Romero, Fengping Xu, 2014, Journal of Neurology Neurosurgery & Psychiatry.

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.

J. Weissenbach, C. Cruaud, K. Tryggvason, 1995, Nature genetics.

Macrophagic myofasciitis: an emerging entity

P. Laforêt, F. Authier, M. Fardeau, 1998, The Lancet.

Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.

S. Amselem, P. Laforêt, B. Eymard, 2001, Brain : a journal of neurology.

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

A. Lemainque, C. Bönnemann, N. Romero, 2002, Annals of neurology.

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

E. Malfatti, N. Romero, J. Mandel, 2014, Brain : a journal of neurology.

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

N. Romero, E. Ricci, L. Morandi, 2014, Journal of Medical Genetics.

C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy

K. Campbell, M. Gautel, I. Richard, 2007, Annals of neurology.

Telethonin-deficiency initially presenting as a congenital muscular dystrophy

N. Romero, A. Ferreiro, M. Fardeau, 2011, Neuromuscular Disorders.

Scapulothoracic arthrodesis for patients who have fascioscapulohumeral muscular dystrophy.

R. Gosselin, M. Fardeau, E. Letournel, 1990, The Journal of bone and joint surgery. American volume.

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

E. Malfatti, L. Medne, C. Bönnemann, 2019, Acta Neuropathologica.

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia

F. Leturcq, J. Kaplan, G. Piluso, 2004, American journal of medical genetics. Part A.

Myoblast transplantation in non-dystrophic dog

J. Tremblay, M. Fardeau, F. Dugré, 1998, Neuromuscular Disorders.

High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

B. Eymard, H. Bécane, D. Duboc, 2000, Pacing and clinical electrophysiology : PACE.

Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies Part II: clinical protocol

N. Romero, S. Braun, M. Fardeau, 2002, Neuromuscular Disorders.

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3‐related type 1 pontocerebellar hypoplasia

E. Malfatti, N. Romero, E. Tizzano, 2018, Muscle & nerve.

Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy

J. Weissenbach, C. Cruaud, K. Tryggvason, 1995, Nature Genetics.

Diagnosis of muscular glycogenosis by in vivo natural abundance 13C NMR spectroscopy

P. Jehenson, G. Bloch, D. Duboc, 1991, Neuromuscular Disorders.

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

T. Desmettre, O. Gribouval, C. Antignac, 2007, The New England journal of medicine.

A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia.

M. Fardeau, R. Rosa, J. Rosa, 1982, Blood.

Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.

C. Philippe, M. Fardeau, F. Tomé, 1994, American journal of medical genetics.

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.

J. Beckmann, J. Loiselet, G. Lefranc, 1999, Nature medicine.

Comparison between the growth pattern of cell cultures from normal and Duchenne dystrophy muscle

M. Fardeau, C. Delaporte, M. Dehaupas, 1984, Journal of the Neurological Sciences.

Acrylamide neuropathy and changes in the axonal transport and muscular content of the molecular forms of acetylcholinesterase

M. Fardeau, J. Couraud, L. Di Giamberardino, 1982, Muscle & nerve.

Distinct muscle imaging patterns in myofibrillar myopathies

C. Heyer, M. Vorgerd, R. Kley, 2008, Neurology.

Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

E. Mercuri, K. Bushby, F. Muntoni, 2000, Annals of neurology.

Phosphorus NMR spectroscopy study of muscular enzyme deficiencies involving glycogenolysis and glycolysis

P. Jehenson, D. Duboc, A. Syrota, 1987, Neurology.

Diagnostic criteria for facioscapulohumeral muscular dystrophy

M. Fardeau, G. Padberg, M. Koch, 1991, Neuromuscular Disorders.

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

J. Rilstone, C. Ackerley, I. Nishino, 2013, Acta Neuropathologica.

FINE-MAPPING THE GENE FOR X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

N. Lévy, M. Villanova, J. Kissel, 2008, Neurology.

Charcot–Marie–Tooth features and maculopathy in a patient with Danon disease

M. Komajda, N. Romero, V. Drouin‐Garraud, 2004, Neurology.

Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy

Raeka S. Aiyar, M. Rafii, B. Banwell, 2002, Neurology.

Elevated levels of complement components C5 and C9 and decreased antitrypsin activity in the serum of patients with X‐linked vacuolated myopathy

M. Villanova, M. Fardeau, L. D. De Clerck, 1996, Muscle & nerve.

X‐linked vacuolated myopathy: Membrane attack complex deposition on muscle fiber membranes with calcium accumulation on sarcolemma

M. Villanova, M. Fardeau, J. Louboutin, 1997, Annals of neurology.

Increasing the Length of the Latissimus Dorsi Muscle Pedicle to Enhance the Efficacy of Cardiomyoplasty

A. Carpentier, M. Fardeau, P. Fornés, 2002 .

In vitro myotrophic effect of serum kappa chain immunoglobulins from a patient with kappa light chain myeloma and muscular hypertrophy.

M. Fardeau, D. Nochy, B. Varet, 1986, The Journal of clinical investigation.

Late‐onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation

N. Romero, M. Fardeau, P. Frachon, 2001, Annals of neurology.

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study

K. Claeys, N. Romero, G. Faulkner, 2009, Acta Neuropathologica.

Chapter 24 Congenital muscular disorders

M. Fardeau, D. Rubin, 2003 .

Myoblast transplantation between monozygotic twin girl carriers of Duchenne muscular dystrophy

J. Bouchard, M. Fardeau, F. Tomé, 1993, Neuromuscular Disorders.

Extracts of muscle biopsies from patients with spinal muscular atrophies inhibit neurite outgrowth from spinal neurons

C. Henderson, T. Taguchi, J. Changeux, 1987, Neurology.

A homologue of dystrophin is expressed at the neuromuscular junctions of normal individuals and DMD patients, and of normal and mdx mice Immunological evidence

J. Léger, T. Voit, M. Fardeau, 1991, FEBS letters.

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency

N. Romero, B. Estournet, A. Barois, 2002, Neuromuscular Disorders.

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

F. Muntoni, I. Desguerre, H. Topaloglu, 1998, American journal of human genetics.

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.

J. Weissenbach, C. Cruaud, K. Tryggvason, 1996, American journal of human genetics.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

K. Pelin, V. Lehtokari, E. Malfatti, 2014, Acta neuropathologica communications.

Muscle histopathology in nebulin-related nemaline myopathy Malfatti

K. Pelin, V. Lehtokari, E. Malfatti, 2022 .

Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene

K. Claeys, G. Faulkner, T. Maisonobe, 2008, Neuromuscular Disorders.

The risk of diabetic control: A comparison of hospital versus general practice supervision

M. Fardeau, A. Basdevant, J. Lanöe, 1982, Diabetologia.

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene

J. Armstrong, I. Ferrer, M. Fardeau, 2007, Neuromuscular Disorders.

Inclusion body myositis.

M. Chevallay, M. Fardeau, F. Tomé, 1981, Acta neuropathologica. Supplementum.

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia

K. Claeys, P. Laforêt, B. Eymard, 2009, Neuromuscular Disorders.

Myotilinopathy in a family with late onset myopathy

O. Carpén, M. Fardeau, F. Dubas, 2006, Neuromuscular Disorders.

Linkage studies in facioscapulohumeral muscular dystrophy (FSHD).

J. Gilbert, A. Roses, J. Vance, 1992, American journal of human genetics.

Skeletal muscle involvement in human immunodeficiency virus infection

M. Fardeau, M. Baudrimont, J. Fournier, 2004, Acta Neuropathologica.

Regeneration of skeletal muscle induced by satellite cell grafts.

M. Fardeau, H. Alameddine, 1990, Advances in experimental medicine and biology.

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy

E. Bertini, B. Schlotter-Weigel, E. Malfatti, 2020, Neurology.

[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].

J. Harpey, B. Estournet, D. Hillaire, 1996, Revue neurologique.

Nuclear inclusion in oculopharyngeal dystrophy

M. Fardeau, F. Tomé, 2004, Acta Neuropathologica.

Nuclear inclusions in oculopharyngeal dystrophy.

M. Fardeau, F. Tomé, 1980, Acta neuropathologica.

Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia

P. Mezin, N. Romero, M. Fardeau, 1992, Digestive Diseases and Sciences.

Ultrastructure of muscle and sensory nerve in Fabry's disease

G. Lenoir, M. Fardeau, F. Tomé, 1977, Acta Neuropathologica.

Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy

C. de Toma, P. Laforêt, B. Eymard, 1998, Neurology.

X‐linked vacuolated myopathy: Membrane attack complex deposition on the surface membrane of injured muscle fibers is not accompanied by S‐protein

M. Villanova, M. Fardeau, L. Merlini, 1998, Muscle & nerve.

MUSK, a new target for mutations causing congenital myasthenic syndrome.

C. Legay, L. Schaeffer, E. Goillot, 2004, Human molecular genetics.

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).

B. Eymard, E. Krejci, M. Fardeau, 1998, American journal of human genetics.

Expression of a recombinant dystrophin in mdx mice using adenovirus vector

M. Fardeau, H. Alameddine, J. Mandel, 1994, Neuromuscular Disorders.

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation

B. Eymard, J. Leroy, M. Fardeau, 2004, Neuromuscular Disorders.

Juvenile‐onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene

J. Melki, N. Baumann, R. Khosravi, 1997, Annals of neurology.

Assessment of a symptomatic Duchenne muscular dystrophy carrier 20years after myoblast transplantation from her asymptomatic identical twin sister

J. Bouchard, J. Hogrel, M. Fardeau, 2013, Neuromuscular Disorders.

Distribution of acetylcholinesterase molecular forms in neural and non‐neural sections of human muscle

M. Fardeau, J. Massoulie, S. Bon, 1979, FEBS letters.

Juvenile and adult-onset acid maltase deficiency in France

P. Laforêt, B. Eymard, M. Fardeau, 2000, Neurology.

Myoblast transplantations lead to the expression of the laminin α2 chain in normal and dystrophic (dy/dy) mouse muscles

J. Puymirat, M. Fiszman, M. Fardeau, 1999, Gene Therapy.

Desmin in myology 24th European Neuromuscular Center-sponsored workshop held 5–6 November 1993, Naarden, The Netherlands

H. Goebel, M. Fardeau, 1995, Neuromuscular Disorders.

Dihydropyridine receptor ( DHPR ) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2018 .

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2017, Acta Neuropathologica.

Mutations in dynamin 2 cause dominant centronuclear myopathy.

A. Beggs, N. Romero, Hanns Lochmüller, 2005, Nature genetics.

Expression of myosin heavy chain isoforms in Duchenne muscular dystrophy patients and carriers

J. Léger, J. Marini, M. Chevallay, 1991, Neuromuscular Disorders.

Severe childhood muscular dystrophy affecting both sexes and frequent in tunisia

M. Fardeau, M. Ben Hamida, N. Attia, 1983, Muscle & nerve.

Partial Laminin ct2 Chain Restoration in ct2 Chain-deficient dy/dy Mouse by Primary Muscle Cell Culture Transplantation

E. Engvall, M. Fardeau, B. Roy, 2002 .

Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis

C. Richelme, M. Nissinen, A. Barois, 1997, Neuromuscular Disorders.

Partial laminin alpha2 chain restoration in alpha2 chain-deficient dy/dy mouse by primary muscle cell culture transplantation

E. Engvall, M. Fardeau, F. Tomé, 1996, The Journal of cell biology.

Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation.

N. Romero, M. Fardeau, P. Frachon, 2001 .

Multi‐minicore disease–searching for boundaries: Phenotype analysis of 38 cases

A. Toutain, N. Romero, B. Estournet, 2000, Annals of neurology.

X-Linked Vacuolated Myopathy : TNF-α and IFN-γ Expression in Muscle Fibers with MHC Class I on Sarcolemma

M. Villanova, M. Fardeau, J. Louboutin, 2001 .

Short Communication X-Linked Vacuolated Myopathy TNF- a and IFN- g Expression in Muscle Fibers with MHC Class I on Sarcolemma

M. Villanova, M. Fardeau, J. Louboutin, 2001 .

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

A. Laquérriere, N. Romero, R. Carlier, 2017, Acta Neuropathologica.

Oculopharyngeal muscular dystrophy.

J. Bouchard, B. Brais, G. Rouleau, 1999, Seminars in neurology.

Human myotube differentiation in vitro in different culture conditions

M. Fardeau, B. Dautréaux, C. Delaporte, 1986, Biology of the cell.

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

E. Malfatti, N. Romero, A. Echaniz-Laguna, 2019, Acta Neuropathologica Communications.

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

J. Beckmann, K. Bushby, J. Oeltjen, 2001, Neurology.

Problems with NMR spectroscopy in human metabolic myopathies

P. Jehenson, D. Duboc, A. Syrota, 1988, Neurology.

[Severe cardiomyopathy revealing amylopectinosis. Two cases in adolescents from the same family].

B. Eymard, D. Duboc, M. Fardeau, 1994, Presse medicale.

New POMT2 mutations causing congenital muscular dystrophy

N. Romero, F. Leturcq, L. Viollet, 2007, Neurology.

Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin.

K. Campbell, I. Nonaka, F. Leturcq, 1993, American journal of human genetics.

Desmin – Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14–16 September 2001, Naarden, The Netherlands

H. Goebel, M. Fardeau, 2002, Neuromuscular Disorders.

[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)].

P. Vernant, M. Fardeau, F. Tomé, 1978, Revue neurologique.

Immunohistochemical analysis of muscle cytochromec oxidase deficiency in children

N. Romero, M. Fardeau, A. Lombès, 2005, Histochemistry and Cell Biology.

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

B. Eymard, J. Leroy, E. Krejci, 2003, Neuromuscular Disorders.

de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency.

B. Poll-The, P. Niaudet, J. Saudubray, 1988, The Journal of pediatrics.

Polyneuropathy after perhexiline maleate therapy.

F. Chédru, M. Fardeau, J. Mallecourt, 1976, British medical journal.

Immunohistochemical demonstration of fibre type-specific isozymes of cytochrome c oxidase in human skeletal muscle

N. Romero, M. Fardeau, B. Kadenbach, 2006, Histochemistry.

Morphological studies of skeletal muscle in lactic acidosis

N. Romero, G. Touati, M. Fardeau, 1996, Journal of Inherited Metabolic Disease.

Infantile familial cardiomyopathy due to mitochondrial complex I and IV associated deficiency

N. Romero, M. Fardeau, C. Marsac, 1993, Neuromuscular Disorders.

A NEW CENTRONUCLEAR MYOPATHY PHENOTYPE DUE TO A NOVEL DYNAMIN 2 MUTATION

N. Romero, B. Eymard, J. Bevilacqua, 2009, Neurology.

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

N. Romero, E. Uro-Coste, J. Bevilacqua, 2007, Annals of neurology.

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.

N. Romero, J. Chiras, P. Laforêt, 2006, Brain : a journal of neurology.

Ventricular Function

A. Carpentier, M. Fardeau, J. Chachques, 2005 .

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.

D. Figarella-Branger, E. Malfatti, N. Romero, 2013, Journal of neuropathology and experimental neurology.

Acute renal failure in McArdle's disease. Report of two cases.

J. Grünfeld, J. Chanard, M. Fardeau, 1972, The New England journal of medicine.

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

B. Eymard, M. Fardeau, S. Berrih-Aknin, 1988, Journal of the Neurological Sciences.

Neuromuscular disease: muscle.

M. Fardeau, 2013, Current opinion in neurology.

Ocular myopathies.

M. Fardeau, F. Tomé, 1985, Pathology, research and practice.

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

M. Prevost, F. Chapon, M. Fardeau, 1998, Nature Genetics.

Calpainopathy-a survey of mutations and polymorphisms.

J. Beckmann, K. Bushby, I. Richard, 1999, American journal of human genetics.

Congenital muscular dystrophy with merosin deficiency.

K. Campbell, Y. Sunada, B. Estournet, 1994, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

Adult onset reducing body myopathy

D. Figarella-Branger, J. Pouget, M. Fardeau, 1999, Neuromuscular Disorders.

Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.

N. Romero, P. Laforêt, B. Eymard, 2018, Genetic testing and molecular biomarkers.

Late-onset rod myopathy associated with monoclonal gammopathy

B. Eymard, M. Chevallay, M. Fardeau, 1993, Neuromuscular Disorders.

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

V. Frey, J. Harpey, C. Cruaud, 1998, Journal of medical genetics.

Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function

M. Fardeau, A. Lombès, P. Blondy, 2002, Neuromuscular Disorders.

Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

S. Blumen, J. Bouchard, B. Brais, 1999, Annals of neurology.

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Pieter J. de Jong, Saeed Bohlega, Jing Liu, 1998, Nature Genetics.

233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017

R. Carlier, I. Richard, J. Hogrel, 2018, Neuromuscular Disorders.

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.

J. Beckmann, I. Richard, A. Lasa, 1998, The American journal of pathology.

Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.

J. Beckmann, I. Richard, D. Hillaire, 1996, Brain : a journal of neurology.

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

J. Beckmann, K. Campbell, N. Romero, 1994, Cell.

P-sarcoglycan : characterization and role in limb-girdle muscular dystrophy linked to 4 q 12

Charles, C. Slaughter, K. Campbell, 2006 .

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

J. Beckmann, C. Slaughter, K. Campbell, 1995, Nature Genetics.

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

K. Campbell, N. Romero, F. Leturcq, 1997, Neurology.

STEM CELL TRANSPLANTATION IN A PATIENT WITH LATE-ONSET NEMALINE MYOPATHY AND GAMMOPATHY

O. Dubourg, P. Laforêt, B. Eymard, 2008, Neurology.

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods

E. Malfatti, N. Romero, R. Carlier, 2017, Annals of neurology.

Storage of phosphorylated desmin in a familial myopathy

C. Delcayre, M. Fardeau, F. Tomé, 1988, FEBS letters.

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.

F. Muntoni, C. Bönnemann, N. Romero, 2002, American journal of human genetics.

CORE-ROD MYOPATHY CAUSED BY MUTATIONS IN THE NEBULIN GENE

K. Pelin, K. Claeys, V. Lehtokari, 2009, Neurology.

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

N. Romero, N. Monnier, J. Lunardi, 2000, Human molecular genetics.

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Nigel, K. Pelin, M. Bang, 1999, Proceedings of the National Academy of Sciences of the United States of America.

New morphologic and genetic findings in cap disease associated with β-tropomyosin (TPM2) mutations

S. Quijano-roy, N. Darín, M. Fardeau, 2008, Neurology.

Congenital myopathy with “reducing bodies” in muscle fibres

M. Fardeau, F. Tomé, 2004, Acta Neuropathologica.

Fibronectin, laminin, type I, III and IV collagens in Duchenne's muscular dystrophy, congenital muscular dystrophies and congenital myopathies: an immunocytochemical study.

M. Fardeau, J. Grimaud, J. Labat-Robert, 1985, Connective tissue research.

Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy 22–24 April 1994, The Netherlands

V. Dubowitz, M. Fardeau, 1995, Neuromuscular Disorders.

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

E. Perret, M. Fardeau, Ylva Edling, 2002, Neuromuscular Disorders.

156th ENMC International Workshop: Desmin and protein aggregate myopathies, 9–11 November 2007, Naarden, The Netherlands

H. Goebel, M. Fardeau, R. Schröder, 2008, Neuromuscular Disorders.

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

J. Jais, K. Claeys, I. Nelson, 2016, Revue neurologique.

Myofibrillar myopathies.

K. Claeys, M. Fardeau, 2013, Handbook of clinical neurology.

Desmin‐related myopathy with mallory body–like inclusions is caused by mutations of the selenoprotein N gene

F. Hanefeld, H. Goebel, C. Bönnemann, 2004, Annals of neurology.

121st ENMC International Workshop on Desmin and Protein Aggregate Myopathies. 7–9 November 2003, Naarden, The Netherlands

H. Goebel, M. Fardeau, 2004, Neuromuscular Disorders.

Familial fingerprint body myopathy.

M. Fardeau, F. Tomé, S. Derambure, 1976, Archives of neurology.

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

A. Poustka, J. Mandel, W. Kress, 1996, Human molecular genetics.

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

J. Beckmann, K. Campbell, N. Romero, 1995, Nature Genetics.

Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31.

M. Urbanek, M. Muenke, J. Connor, 2000, American journal of human genetics.

Role of persisting basement membrane in the reorganization of myofibres originating from myogenic cell grafts in the rat

M. Fardeau, H. Alameddine, M. Dehaupas, 1991, Neuromuscular Disorders.

Familial disorder of the central and peripheral nervous systems with particular cytoplasmic lamellated inclusions in peripheral nerves, muscle satellite cells, and blood capillaries

M. Fardeau, F. Tomé, P. Brunet, 2004, Acta Neuropathologica.

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

N. Romero, B. Eymard, B. Fontaine, 2013, Neuromuscular Disorders.

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

J. Beckmann, J. Loiselet, G. Lefranc, 1999, Nature Medicine.

β-sarcoglycan : Characterization and role in limb-girdle muscular dystrophy linked to 4q12

J. Beckmann, Y. Sunada, F. Duclos, 1996, Neuromuscular Disorders.

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

J. Pouget, B. Eymard, J. Warter, 1998, Neurology.

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

D. Orlikowski, L. Viollet, B. Eymard, 2010, Journal of Neurology.

A New Mutation in the HEXA Gene Associated With a Spinal Muscular Atrophy Phenotype

N. Baumann, B. Eymard, R. Khosravi, 1995, Neurology.

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

N. Romero, P. Laforêt, B. Eymard, 2017, Journal of Neurology.

Changes in surface morphology and basal lamina of cultured muscle cells from Duchenne muscular dystrophy patients

M. Fardeau, A. Rouche, B. Dautréaux, 1990, Journal of the Neurological Sciences.

[Ultrastructure of skeletal muscle fibers (I)].

M. Fardeau, 1969, La Presse medicale.

Myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a clinico-pathological entity

K. Claeys, D. Figarella-Branger, H. Goebel, 2010, Neuromuscular Disorders.

[Myopathy with mitochondrial abnormalities localizated in type I fibers. Clinical, histochemical and ultrastructural data apropos of a diffuse atrophic form with ocular onset].

D. Laplane, P. Castaigne, M. Fardeau, 1972, Revue neurologique.

[Clinical and metabolic study of a case of Eulenburg's congenital paramyotonie. Ultrastructural data concerning the muscle biopsy].

M. Fardeau, P. Rondot, R. Garcin, 1966, Revue neurologique.

[Electron microscopic study of muscular lesions of neurogenic atrophy caused by injury of the anterior horn (seen in 8 cases of amyotrophic lateral sclerosis)].

M. Fardeau, J. Lapresle, J. de Recondo, 1966, Revue neurologique.

80th ENMC International Workshop on Multi-Minicore Disease: 1st International MmD Workshop 12–13th May, 2000, Soestduinen, The Netherlands

A. Ferreiro, M. Fardeau, 2002, Neuromuscular Disorders.

Congenital neuromuscular disorder with predominant mitochondrial changes in type II muscle fibers.

M. Fardeau, F. Tomé, J. Rolland, 1981, Acta neuropathologica. Supplementum.

Morphological study of peripheral nerve changes induced by chloroquine treatment

F. Lhermitte, R. Tegnér, M. Fardeau, 2004, Acta Neuropathologica.

Age-related morphological changes of the deltoid muscle from 50 to 79 years of age

J. Hogrel, M. Fardeau, F. Tomé, 2001, Acta Neuropathologica.

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

A. Clarke, C. Wallgren‐Pettersson, V. Dubowitz, 1995, Journal of medical genetics.

Clinical and histologic findings in autosomal centronuclear myopathy

N. Romero, G. Bassez, P. Laforêt, 2004, Neurology.

Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene

N. Romero, J. Chiras, L. Viollet, 2006, Neurology.

Extensive morphological and immunohistochemical characterization in myotubular myopathy

N. Romero, J. Hogrel, V. Biancalana, 2013, Brain and behavior.

Distinct contractile protein profile in congenital myotonic dystrophy and X-linked myotubular myopathy

G. Butler-Browne, C. Laurent‐Winter, M. Chevallay, 1991, Neuromuscular Disorders.

[Centromuclear myopathy with late clinical manifestations. Clinical, histological and ultrastructural study of a new case].

L. Got, M. Fardeau, M. Goulon, 1976, Revue neurologique.

A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy.

J. Mandel, J. Laporte, M. Fardeau, 1997, American journal of human genetics.

Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

M. Fardeau, J. Gouyon, N. Dahl, 1995, American journal of human genetics.

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome

F. Muntoni, B. Estournet, A. Barois, 1999, Neuromuscular Disorders.

Functional Recovery Induced by Satellite Cell Grafts in Irreversibly Injured Muscles

M. Fardeau, H. Alameddine, A. Sébille, 1994, Cell transplantation.

Regeneration of skeletal muscle fibers from autologous satellite cells multiplied in vitro. An experimental model for testing cultured cell myogenicity

M. Fardeau, H. Alameddine, M. Dehaupas, 1989, Muscle & nerve.

Blunted coronary reserve in myotonic dystrophy. An early and gene-related phenomenon.

P. Merlet, B. Mazoyer, C. Junien, 1996, Circulation.

Physical state abnormality of erythrocyte membrane in myotonic dystrophy: a spin label study.

M. Fardeau, J. Viret, D. Daveloose, 1987, Clinica chimica acta; international journal of clinical chemistry.

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

L. Schaeffer, E. Goillot, A. Taly, 2013, PloS one.

“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

K. Claeys, N. Romero, P. Laforêt, 2009, Acta Neuropathologica.

Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in merrf syndrome

N. Romero, M. Fardeau, A. Lombès, 1992, Neuromuscular Disorders.

Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP)

J. Connor, M. Fardeau, M. le Merrer, 2000, Clinical genetics.

Natural history of LGMD2A for delineating outcome measures in clinical trials

I. Richard, J. Hogrel, F. Fougerousse, 2016, Annals of clinical and translational neurology.

Neuromuscular disease : muscle opyright

M. Fardeau, 2013 .

Chromosome 15-linked limb-girdle muscular dystrophy: Clinical phenotypes in Reunion Island and French metropolitan communities

J. Beckmann, I. Richard, B. Eymard, 1996, Neuromuscular Disorders.

Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)

N. Romero, B. Eymard, P. Seibel, 1991, Journal of the Neurological Sciences.

[Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency].

F. Viader, B. Lechevalier, F. Chapon, 1989, Revue neurologique.

EMG and nerve conduction studies in children with congenital muscular dystrophy

N. Romero, F. Renault, B. Estournet, 2004, Muscle & nerve.

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Susan C. Brown, J. Burgunder, K. Bushby, 2001, Human molecular genetics.

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

A. Chapelle, M. Koenig, J. Kaplan, 1990, Cell.

Diagnostic workup for neuromuscular diseases.

I. Desguerre, M. Fardeau, 2013, Handbook of clinical neurology.

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBa/NF-kB pathway in limb-girdle muscular dystrophy type 2A

J. Beckmann, J. Loiselet, G. Lefranc, 1999, Nature Medicine.

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13

J. Weissenbach, M. Sanson, S. Blumen, 1995 .

Using the full power of linkage analysis in 11 French Canadian families to fine map the oculopharyngeal muscular dystrophy gene

J. Bouchard, B. Brais, G. Rouleau, 1997, Neuromuscular Disorders.

Genealogical study of oculopharyngeal muscular dystrophy in France

B. Eymard, M. Fardeau, F. Tomé, 1997, Neuromuscular Disorders.

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13.

J. Weissenbach, M. Sanson, J. Bouchard, 1995, Human molecular genetics.

Hereditary inclusion body myopathies.

M. Fardeau, F. Tomé, M Fardeau, 1998, Current opinion in neurology.

Ubiquitin and β-amyloid-protein in inclusion body myositis (IBM), familial IBM-like disorder and oculopharyngeal muscular dystrophy: An immunocytochemical study

A. Leclerc, M. Fardeau, F. Tomé, 1993, Neuromuscular Disorders.

Nuclear changes in muscle disorders.

M. Fardeau, F. Tomé, M Fardeau, 1986, Methods and achievements in experimental pathology.

Oculopharyngeal muscular dystrophy in France

M. Fardeau, F. Tomé, 1997, Neuromuscular Disorders.

Dysphagia in oculopharyngeal muscular dystrophy: a series of 22 French cases

B. Eymard, S. Chaussade, M. Fardeau, 1997, Neuromuscular Disorders.

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling

E. Malfatti, N. Romero, B. Eymard, 2015, Journal of neuromuscular diseases.

[Oculopharyngeal muscular dystrophy. A census of French families and genealogic study].

M. Fardeau, F. Tomé, F. Samson, 1990, Revue neurologique.

Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families

J. Weissenbach, N. Baumann, A. Elbaz, 1994, Nature Genetics.

Autosomal dominant late adult onset distal leg myopathy

M. Fardeau, F. Dubas, I. Pénisson‐Besnier, 1997, Neuromuscular Disorders.

Distal myopathy of Miyoshi type: report of 21 French cases

P. Laforêt, B. Eymard, M. Fardeau, 1997, Neuromuscular Disorders.

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia

B. Dutrillaux, G. Ommen, J. Kaplan, 1988, Human Genetics.

Loss of Calpain 3 Proteolytic Activity Leads to Muscular Dystrophy and to Apoptosis-Associated Iκbα/Nuclear Factor κb Pathway Perturbation in Mice

J. Beckmann, G. Lefranc, N. Bourg, 2000, The Journal of cell biology.

The central nervous system and carbon monoxide poisoning. II. Anatomical study of brain lesions following intoxication with carbon monixide (22 cases).

M. Fardeau, J. Lapresle, 1967, Progress in brain research.

[The leukoencephalopathies caused by carbon monoxide poisoning. Study of sixteen anatomo-clinical observations].

M. Fardeau, J. Lapresle, 1966, Acta neuropathologica.

Les leuco-encphalopathies de l'intoxication oxycarbone: Etude de seize observations anatomo-cliniques

M. Fardeau, J. Lapresle, 1966 .

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene

J. Hauw, B. Eymard, B. Fontaine, 1996, Journal of the Neurological Sciences.

Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy.

N. Romero, D. Klatzmann, J. Hogrel, 2004, Human gene therapy.

Morphometric analysis of mdx diaphragm muscle fibres. Comparison with hindlimb muscles

M. Fardeau, J. Louboutin, E. Thaon, 1993, Neuromuscular Disorders.

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

M. Lathrop, J. Melki, J. Aicardi, 1990, Nature.

ULTRASTRUCTURAL STUDY OF A PERIPHERAL NERVE BIOPSY IN REFSUM'S DISEASE

W. Engel, M. Fardeau, 1969, Journal of neuropathology and experimental neurology.

Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: Genetic, biochemical and morphological studies

N. Romero, B. Eymard, G. Ponsot, 1991, Journal of the Neurological Sciences.

Absence of γ‐sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12

K. Campbell, Y. Sunada, F. Duclos, 1996, FEBS letters.

Protein 4.1R expression in normal and dystrophic skeletal muscle.

F. Delhommeau, M. Fardeau, P. Leclerc, 2005, Comptes rendus biologies.

Nucleic Acids Research Mapping of heteroplasnic mitochondrial DNA deletions in Kearns-Sayre syndrome

Bert, I. Nelson, K. Gerbitz, 2022 .

Expression of matrix metalloproteinases 2 and 9 in regenerating skeletal muscle: a study in experimentally injured and mdx muscles.

S. Lachkar, M. Fardeau, H. Alameddine, 1999, Developmental biology.

Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin.

J. Ervasti, K. Campbell, N. Romero, 1993, The Journal of clinical investigation.

Class II MHC antigens in normal human skeletal muscle

C. Cifuentes-Díaz, M. Fardeau, D. Charron, 1992, Muscle & nerve.

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

K. Campbell, J. Kaplan, K. Matsumura, 1992, Nature.

Localization of dystrophin and dystrophin-related protein at the electromotor synapse and neuromuscular junction in Torpedo marmorata

J. Changeux, J. Cartaud, M. Fardeau, 1992, Neuroscience.

Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.

K. Campbell, L. E. Lim, C. Stolle, 2000, Human molecular genetics.

Morphological and functional study of extensor digitorum longus muscle regeneration after iterative crush lesions in mdx mouse

M. Fardeau, A. Sébille, J. Noireaud, 1995, Neuromuscular Disorders.

Cognitive functions in duchenne muscular dystrophy: A reappraisal and comparison with spinal muscular atrophy

J. Signoret, M. Fardeau, C. Billard, 1992, Neuromuscular Disorders.

Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparing

M. Fardeau, T. Khurana, F. Tomé, 1995, The Journal of experimental medicine.

Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

A. Chaboud, L. Schaeffer, E. Goillot, 2009, American journal of human genetics.

Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies Part I: rationale

S. Blot, S. Braun, M. Fardeau, 2002, Neuromuscular Disorders.

Expression of dystrophin-associated glycoproteins during human fetal muscle development: A preliminary immunocytochemical study

K. Campbell, K. Matsumura, M. Chevallay, 1994, Neuromuscular Disorders.

Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy

K. Campbell, F. Leturcq, J. Kaplan, 1994, Neuromuscular Disorders.

The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies

K. Campbell, I. Nonaka, J. Kaplan, 1993, Neuromuscular Disorders.

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

C. de Toma, K. Campbell, Y. Sunada, 1997, Journal of medical genetics.

Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy

M. Hamida, J. Kaplan, K. Dellagi, 1990, Neurology.

[Presence of dystrophine-like protein at the neuromuscular junction in Duchenne muscular dystrophy and in "mdx" mutant mice].

J. Léger, M. Fardeau, F. Tomé, 1990, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

A. Chapelle, K. Pelin, F. Muntoni, 1999, Neuromuscular Disorders.

Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries.

K. Campbell, F. Leturcq, J. Kaplan, 1993, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies

J. Beckmann, J. Burgunder, N. Bourg, 1999, Neuromuscular Disorders.

Hypokalemic Periodic Paralysis andtheDihydropyridine Receptor (CACNLIA3):Genotype/Phenotype Correlations forTwo Predominant Mutations andEvidence fortheAbsenceofa Founder Effect in16Caucasian Families

R. Ophoff, B. Echenne, G. Lenoir, 1995 .

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

G. Serratrice, F. Chapon, C. Confavreux, 1994, European journal of human genetics : EJHG.

[Recent findings on the genealogy, clinical aspects and histology of a family with periodic hyperkalemic paralysis].

M. Fardeau, H. Collin, F. Isch, 1978, Revue neurologique (Paris).

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

J. Holton, H. Katus, B. Eymard, 2007, Human mutation.

Histochemical and ultrastructural study of muscle biopsies in 3 cases of dystrophia myotonica in the newborn child.

M. Fardeau, F. Tomé, P. Dreyfus, 1974, Journal of the neurological sciences.

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.

K. Claeys, N. Romero, I. Husson, 2011, European journal of medical genetics.

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy

G. Gyapay, J. Weissenbach, J. Hazan, 1996, Human Genetics.

The cost of treating COPD patients with long-term oxygen therapy in a French population.

B. Fleury, M. Fardeau, J. Lanoé, 1996, Chest.

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients

V. Meininger, F. Salachas, A. Béhin, 2015, Annals of clinical and translational neurology.

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.

E. Baulieu, J. Hogrel, S. Denot-Ledunois, 2003, Archives of internal medicine.

Chronic progressive external ophthalmoplegia with ragged-red fibers: Clinical, morphological and genetic investigations in 43 patients

P. Laforêt, B. Eymard, M. Chevallay, 1995, Neuromuscular Disorders.

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes

A. Barois, B. Eymard, B. Hainque, 2003, Journal of medical genetics.

[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].

L. Servais, P. Laforêt, B. Eymard, 2013, Revue neurologique.

[Electron microscopic study of a peripheral nerve biopsy specimen in four cases of Dejerine-Sottas hypertrophic neuritis].

M. Fardeau, J. Lapresle, J. de Recondo, 1966, Revue neurologique.

X‐linked vacuolar myopathies: Two separate loci and refined genetic mapping

S. Scherer, F. Muntoni, M. Villanova, 2000, Annals of neurology.

X‐linked vacuolated myopathy: Complement membrane attack complex on surface membrane of injured muscle fibers

M. Villanova, B. Eymard, M. Fardeau, 1995, Annals of neurology.

Secondary metabolic defects in spinal muscular atrophy type II

N. Romero, J. Harpey, F. Renault, 1990, The Lancet.

Effect of latissimus dorsi dynamic cardiomyoplasty on ventricular function.

M. Fardeau, J. Chachques, B. Swynghedauw, 1988, Circulation.

From adhalinopathies to alpha-sarcoglycanopathies: An overview

F. Leturcq, K. Azibi, T. Voit, 1996, Neuromuscular Disorders.

Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy

E. Malfatti, M. Fardeau, M. Chaves, 2015, Muscle & nerve.

Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.

K. Campbell, N. Romero, F. Leturcq, 1994, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

Transaction costs economics as a conceptual framework for the analysis of barriers to the diffusion of telemedicine.

M. Fardeau, J. Lanöe, N Pelletier-Fleury, 1997, Health policy.

Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.

A. Kahn, M. Fardeau, M. Nicolino, 1997, Biochemical and biophysical research communications.

Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochrome c oxidase deficiency in skeletal muscle

I. Nelson, N. Romero, B. Eymard, 1989, Journal of the Neurological Sciences.

[Anatomo-clinical study of a case of "ophthalmoplegia plus" with analysis of muscular, central nervous, ocular, myocardial, and thyroid lesions].

J. Hauw, F. Chain, F. Lhermitte, 1977, Revue neurologique (Paris).

RETRACTED: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification

J. Rilstone, C. Ackerley, I. Nishino, 2009, Cell.

VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification (Retracted article. See vol. 142, pg. 984, 2010)

J. Rilstone, C. Ackerley, I. Nishino, 2009 .

Exercise intolerance in patients with McArdle's disease or mitochondrial myopathies.

B. Eymard, M. Fardeau, M. Chaussain, 1992, European Journal of Medicine.

Mutations in GFPT 1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregates myopathy with synaptopathy

Nathalie, N. Romero, P. Laforêt, 2017 .

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

E. Malfatti, N. Romero, A. Echaniz-Laguna, 2019, Acta Neuropathologica Communications.

„Fingerprint inclusions” in muscle fibres in dystrophia myotonica

M. Fardeau, F. Tomé, 1973, Acta Neuropathologica.

Malignant hyperthermia and central core disease: Analysis of two families with heterogeneous clinical expression

N. Romero, J. Lunardi, M. Fardeau, 1993, Neuromuscular Disorders.

Immunocytochemical analysis of myosin heavy chains in human fetal skeletal muscles

J. Léger, M. Chevallay, M. Fardeau, 1986, Journal of the Neurological Sciences.

[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alphaB-cristallin gene].

F. Chapon, B. Eymard, D. Duboc, 2000, Revue neurologique.

Impaired cerebral glucose metabolism in myotonic dystrophy: a triplet-size dependent phenomenon

P. Merlet, D. Annane, S. Pappatà, 1998, Neuromuscular Disorders.

Correlation Between Decreased Myocardial Glucose Phosphorylation and the DNA Mutation Size in Myotonic Dystrophy

P. Merlet, D. Annane, B. Mazoyer, 1994, Circulation.

NADH measured by laser fluorimetry in skeletal muscle in McArdle's disease.

D. Duboc, M. Fardeau, G. Renault, 1987, The New England journal of medicine.

Scapulothoracic Arthrodesis in Facioscapulohumeral Muscular Dystrophy

M. Fardeau, G. Saillant, F. Laude, 2003, Clinical orthopaedics and related research.

[Congenital myasthenic syndromes; French experience].

B. Eymard, M. Fardeau, E. Fournier, 2014, Bulletin de l'Academie nationale de medecine.

[Acute carbon monoxide poisoning. Anatomic study of an unusual encephalopathy caused by the diffusion of necrotic lesions and the importance of calcium deposits].

M. Fardeau, J. Lapresle, 1971, Boletin de estudios medicos y biologicos.

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

N. Romero, P. Landrieu, N. Monnier, 2001, Human molecular genetics.

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

H. Goebel, M. Fardeau, 1996, Neuromuscular Disorders.

[Simultaneous staining of the terminal motor innervation and the sub-neural apparatus (S. Manolov's technic). Importance for diagnosis in neuro-muscular pathology].

M. Fardeau, 1964, Revue neurologique.

The Enigma of Muscle Contractures

M. Fardeau, 1999 .

P2.18 A novel missense FLNC mutation causes arrhythmia and late onset myofibrillar myopathy with particular histopathology features

K. Claeys, N. Romero, B. Eymard, 2010, Neuromuscular Disorders.

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation

L. Servais, H. Cavé, N. Romero, 2014, Neuromuscular Disorders.

Decreased cerebral glucose utilization in myotonic dystrophy

B. Mazoyer, Y. Samson, B. Eymard, 1992, Neurology.

Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping.

J. Weissenbach, P. Beighton, D. Viljoen, 1995, Human molecular genetics.

UvA-DARE ( Digital Academic Repository ) Calpainopathy : a survey of mutations and polymorphisms

J. Beckmann, K. Bushby, I. Richard, 1999 .

THE PERMEABILITY OF THE BASAL LAMINA AT THE NEUROMUSCULAR JUNCTION. AN ULTRASTRUCTURAL STUDY OF RAT SKELETAL MUSCLE USING PARTICULATE TRACERS

M. Fardeau, A. Oldfors, 1983, Neuropathology and applied neurobiology.

Matrix metalloproteinases MMP‐2 and MMP‐9 in denervated muscle and injured nerve

M. Fardeau, H. Alameddine, C. Lafuma, 1998, Neuropathology and applied neurobiology.

Congenital muscular dystrophies

M. Fardeau, 1997 .

Juvenile and adult-onset acid maltase deficiency in France: Genotype–phenotype correlation

P. Laforêt, B. Eymard, A. Reuser, 2001, Neurology.

Ultrastructure of muscle and neuromuscular junction: an historical survey of the early french contributions

M. Fardeau, F. Tomé, 1994, Biology of the cell.

Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).

J. Gilbert, M. Pericak-Vance, J. Vance, 1993, American journal of human genetics.

Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

R. Ophoff, B. Echenne, A. Elbaz, 1995, American journal of human genetics.

Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa.

J. Beckmann, F. Leturcq, J. Kaplan, 1994, Journal of medical genetics.

Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.

J. Beckmann, N. Chiannilkulchai, J. Tischfield, 1995, American journal of human genetics.

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

M. Fardeau, P. Dreyfus, M. Pinçon-Raymond, 1979, Annales de génétique et de sélection animale.

Prenatal detection of merosin expression in human placenta.

T. Voit, M. Fardeau, F. Tomé, 1994, Neuropediatrics.

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.

V. Dubowitz, B. Estournet, D. Hillaire, 1994, Human molecular genetics.

C.P.4.02 Muscle imaging differentiates primary desminopathies from myofibrillar myopathies

M. Vorgerd, R. Kley, B. Eymard, 2007, Neuromuscular Disorders.

[Functional imaging of human muscle].

P. Carlier, A. Leroy-Willig, D. Duboc, 1998, Revue neurologique (Paris).

[Diagnostic contribution of computer tomography in muscular pathology].

M. Fardeau, P. Brunet, D. Lardé, 1985, Revue neurologique.

[Proximal myotonial myopathy (PROMM): clinical and histology study].

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Loss of Calpain 3 Proteolytic Activity Leads to Muscular Dystrophy and to Apoptosis-Associated Iκbα/Nuclear Factor κb Pathway Perturbation in Mice

J. Beckmann, G. Lefranc, N. Bourg, 2000, The Journal of cell biology.

Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK.

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Retraction Notice to: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification

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Acute Asymmetrical Neuritis Associated with Rapid Ultrafiltration Dialysis

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Preferential Localization oftheLimb-Girdle Muscular Dystrophy

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Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome.

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