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Une Rasch analyse de la mesure de fonction motrice chez les patients atteints de dystrophie musculaire congénitale et myopathie congénitale

Annals of physical and rehabilitation medicine, 2014-05, Vol.57, p.e112-e112

2014

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Développement et validation de la version anglaise du NM-Score : une classification fonctionnelle pour les patients atteints de maladies neuromusculaires

Annals of physical and rehabilitation medicine, 2014-05, Vol.57, p.e115-e116

2014

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Zebrafish models of collagen VI-related myopathies

Human molecular genetics, 2010-06, Vol.19 (12), p.2433-2444

2010

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The neuromuscular differential diagnosis of joint hypermobility

American journal of medical genetics. Part C, Seminars in medical genetics, 2015-03, Vol.169C (1), p.23-42

2015

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Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

Journal of medical genetics, 2005-02, Vol.42 (2), p.108-120

2005

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Genetic and clinical findings in a Chinese cohort of patients with collagen VI‐related myopathies

Clinical genetics, 2018-06, Vol.93 (6), p.1159-1171

2018

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A refined diagnostic algorithm for Bethlem myopathy

Neurology, 2008-04, Vol.70 (14), p.1192

2008

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Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

Human molecular genetics, 2014-05, Vol.23 (9), p.2353-2363

2014

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Titinopathies – Establishment of an international database of TTN mutations and their phenotypes

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S113-S113

2016

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Transcriptome profiling identifies key pathways important in collagen VI related muscular dystrophies including differences between patients with dominant negative vs. null mutations

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S188-S189

2016

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An ultrafast system for signaling mechanical pain in human skin

Science advances, 2019, Vol.5 (7), p.eaaw1297

2019

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Clinical and molecular overlap between myopathies and inherited connective tissue diseases

Neuromuscular disorders : NMD, 2008-11, Vol.18 (11), p.843-856

2008

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212th ENMC International Workshop:: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29–31 May 2015

Neuromuscular disorders : NMD, 2016-03, Vol.26 (3), p.252-259

2016

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Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies

Journal of neurology, 2009, Vol.256 (1), p.13-27

2009

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Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers-Danlos syndrome

American journal of medical genetics. Part A, 2009-10, Vol.149A (10), p.2311-2316

2009

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Antioxidant therapy in RYR1-related myopathies

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S137-S137

2016

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MTM1-related myopathy carrier females manifest significant skeletal asymmetries and a spectrum of muscle involvement

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S117-S117

2016

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P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S211-S212

2016

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A novel COL12A1 variant expands the clinical picture for a collagen XII-related myopathy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S189-S189

2016

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P.13.9 Acoustic radiation force impulse imaging for the differentiation of muscle tissue stiffness in neuromuscular disorders

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.811-811

2013

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G.O.21 - P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S211-S212

2016

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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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Serum biomarker discovery for congenital muscular dystrophies

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S189-S189

2016

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Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S89-S89

2016

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A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

Neuromuscular disorders : NMD, 2006-10, Vol.16 (9), p.571-582

2006

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Une Rasch analyse de la mesure de fonction motrice chez les patients atteints de dystrophie musculaire congénitale et myopathie congénitale

Développement et validation de la version anglaise du NM-Score : une classification fonctionnelle pour les patients atteints de maladies neuromusculaires

Zebrafish models of collagen VI-related myopathies

The neuromuscular differential diagnosis of joint hypermobility

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

Genetic and clinical findings in a Chinese cohort of patients with collagen VI‐related myopathies

A refined diagnostic algorithm for Bethlem myopathy

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

Titinopathies – Establishment of an international database of TTN mutations and their phenotypes

Transcriptome profiling identifies key pathways important in collagen VI related muscular dystrophies including differences between patients with dominant negative vs. null mutations

An ultrafast system for signaling mechanical pain in human skin

Clinical and molecular overlap between myopathies and inherited connective tissue diseases

212th ENMC International Workshop:: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29–31 May 2015

Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies

Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers-Danlos syndrome

Antioxidant therapy in RYR1-related myopathies

MTM1-related myopathy carrier females manifest significant skeletal asymmetries and a spectrum of muscle involvement

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

A novel COL12A1 variant expands the clinical picture for a collagen XII-related myopathy

P.13.9 Acoustic radiation force impulse imaging for the differentiation of muscle tissue stiffness in neuromuscular disorders

G.O.21 - P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

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

Serum biomarker discovery for congenital muscular dystrophies

Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

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