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Novel CAPN3 variant associated with an autosomal dominant calpainopathy

Neuropathology and applied neurobiology, 2020-10, Vol.46 (6), p.564-578

2020

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Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy

Neuropathology and applied neurobiology, 2018-08, Vol.44 (5), p.441-448

2018

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Dilated cardiomyopathy in patients with mutations in anoctamin 5

International journal of cardiology, 2013-09, Vol.168 (1), p.76-79

2013

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Genetics and molecular aspects of dystrophinopathies

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2015-12, Vol.22 (12 Suppl 1), p.12S3-1211

2015

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P88 – 2855: Deficient alpha-dystroglycan presenting with rhabdomyolysis

European journal of paediatric neurology, 2015-05, Vol.19, p.S118-S119

2015

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Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)

Neurology. Genetics, 2016-12, Vol.2 (6), p.e112-e112

2016

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Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy

Muscle & nerve, 2008-03, Vol.37 (3), p.410-414

2008

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HyperCKemia and myalgia are the most common presentation of anoctamin-5 (ANO5) related myopathy in French patients

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S93-S93

2016

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90P Genetic heterogeneity of limb girdle myopathies in Tunisia: more than sarcoglycanopathies

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.264

2024

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New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation

Neurology, 2007-09, Vol.69 (12), p.1254-1260

2007

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LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene

Brain (London, England : 1878), 2005-04, Vol.128 (4), p.732-742

2005

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OPALE: A patient registry for laminopathies and emerinopathies in France

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S138-S138

2016

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Exome sequencing identifies novel truncating TTN mutations with Emery–Dreifuss like muscular dystrophy and secondary calpain3 deficiency without cardiac abnormality

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S245-S245

2015

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Frequency and natural history of sarcoglycanopathies in Paris neuromuscular centers

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S233-S233

2015

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LIMB GIRDLE MUSCULAR DYSTROPHIES: P.136 POMT2 homozygous mutation presenting as intellectual deficiency and isolated elevated CK in siblings

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S86-S86

2020

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LIMB GIRDLE MUSCULAR DYSTROPHIES

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S86

2020

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Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

Neurology, 2007-05, Vol.68 (22), p.1883-1894

2007

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G.P.142

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.843-844

2014

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Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S287-S288

2015

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Anoctamin 5 myopathy: More patients, more phenotypes

Journal of the neurological sciences, 2013-10, Vol.333, p.e447-e447

2013

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Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

Clinical genetics, 2011-10, Vol.80 (4), p.398-402

2011

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Miyoshi-like distal myopathy with mutations in anoctamin 5 gene

Revue neurologique, 2012-02, Vol.168 (2), p.135-141

2012

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P.5.7 Limb-girdle muscular dystrophy type 2E: Clinical, genetic and histopathological features of 27 European patients

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.765-766

2013

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G.P.281

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.901-902

2014

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Novel CAPN3 variant associated with an autosomal dominant calpainopathy

Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

Dilated cardiomyopathy in patients with mutations in anoctamin 5

Genetics and molecular aspects of dystrophinopathies

P88 – 2855: Deficient alpha-dystroglycan presenting with rhabdomyolysis

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)

Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy

HyperCKemia and myalgia are the most common presentation of anoctamin-5 (ANO5) related myopathy in French patients

90P Genetic heterogeneity of limb girdle myopathies in Tunisia: more than sarcoglycanopathies

New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation

LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene

OPALE: A patient registry for laminopathies and emerinopathies in France

Exome sequencing identifies novel truncating TTN mutations with Emery–Dreifuss like muscular dystrophy and secondary calpain3 deficiency without cardiac abnormality

Frequency and natural history of sarcoglycanopathies in Paris neuromuscular centers

LIMB GIRDLE MUSCULAR DYSTROPHIES: P.136 POMT2 homozygous mutation presenting as intellectual deficiency and isolated elevated CK in siblings

LIMB GIRDLE MUSCULAR DYSTROPHIES

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

G.P.142

Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies

Anoctamin 5 myopathy: More patients, more phenotypes

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

Miyoshi-like distal myopathy with mutations in anoctamin 5 gene

P.5.7 Limb-girdle muscular dystrophy type 2E: Clinical, genetic and histopathological features of 27 European patients

G.P.281

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