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Core-rod myopathy caused by mutations in the nebulin gene

Neurology, 2009-10, Vol.73 (14), p.1159-1161

2009

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The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V

Neurology, 2006-06, Vol.66 (11), p.1721-1726

2006

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The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa

Neurology, 2008-12, Vol.71 (24), p.1967-1972

2008

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Spinal penetration index: new three-dimensional quantified reference for lordoscoliosis and other spinal deformities

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association, 2003-01, Vol.8 (1), p.41-49

2003

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Characteristics and progression of patients with frontotemporal dementia in a regional memory clinic network

Alzheimer's research & therapy, 2021-01, Vol.13 (1), p.19-19, Article 19

2021

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Whole body muscle MRI protocol: Pattern recognition in early onset NM disorders

Neuromuscular disorders : NMD, 2012-10, Vol.22, p.S68-S84

2012

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P5.62 Garches muscle Whole-Body MRI protocol: Pattern recognition in early onset neuromuscular disorders

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.742-743

2011

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G.P.1.02 Phenotypic spectrum of core-rod myopathy caused by dominant or recessive RYR1 mutations

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.556-556

2009

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

Journal of medical genetics, 2003-06, Vol.40 (6), p.e81-81

2003

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A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36

Neurology, 2006-07, Vol.67 (1), p.120-124

2006

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Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation

Neurology, 2000-03, Vol.54 (5), p.1075-1079

2000

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‘Cap myopathy’: Case report of a family

Neuromuscular disorders : NMD, 2006-04, Vol.16 (4), p.277-281

2006

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Congenital muscular dystrophy with primary partial laminin α2 chain deficiency: Molecular study

Neurology, 2001-10, Vol.57 (7), p.1319-1322

2001

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Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms

Neuropediatrics, 2004-08, Vol.35 (4), p.246

2004

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Respiratory Capacity Course in Patients With Infantile Spinal Muscular Atrophy

Chest, 2004-09, Vol.126 (3), p.831-837

2004

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Diaphragmatic paralysis in children: A review of 11 cases

Pediatric pulmonology, 1994-09, Vol.18 (3), p.187-193

1994

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C.P.1.14 Early-onset myopathy with cardiac involvement not-related to mutations in M-line titin: An emerging phenotype?

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.838-838

2007

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

Human gene therapy, 2004-11, Vol.15 (11), p.1065-1076

2004

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G.P.5.02 LMNA is responsible for a recognisable form of congenital muscular dystrophy associated with selective axial muscle weakness and progressive course (L-CMD)

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.797-798

2007

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C.P.2.03 Predictive factors of severity and management of respiratory and orthopaedic complications in 16 Ullrich CMD patients

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.844-844

2007

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Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?

American journal of medical genetics, 2000-05, Vol.92 (2), p.117-121

2000

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Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency

Radiology, 1998-03, Vol.206 (3), p.811-816

1998

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Respiratory problems in spinal muscular atrophies

Pediatric pulmonology, 1997-01, Vol.23 (S16), p.140-141

1997

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Syndromes myasthéniques congénitaux dus à des mutations du gène de la rapsyne

Revue neurologique, 2004-05, Vol.160 (5), p.78-84

2004

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Autopsies of sudden infant death syndrome-classification and epidemiology

Acta Paediatrica, 1995-12, Vol.84 (12), p.1366-1371

1995

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Core-rod myopathy caused by mutations in the nebulin gene

The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa

Spinal penetration index: new three-dimensional quantified reference for lordoscoliosis and other spinal deformities

Characteristics and progression of patients with frontotemporal dementia in a regional memory clinic network

Whole body muscle MRI protocol: Pattern recognition in early onset NM disorders

P5.62 Garches muscle Whole-Body MRI protocol: Pattern recognition in early onset neuromuscular disorders

G.P.1.02 Phenotypic spectrum of core-rod myopathy caused by dominant or recessive RYR1 mutations

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

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation

‘Cap myopathy’: Case report of a family

Congenital muscular dystrophy with primary partial laminin α2 chain deficiency: Molecular study

Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms

Respiratory Capacity Course in Patients With Infantile Spinal Muscular Atrophy

Diaphragmatic paralysis in children: A review of 11 cases

C.P.1.14 Early-onset myopathy with cardiac involvement not-related to mutations in M-line titin: An emerging phenotype?

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

G.P.5.02 LMNA is responsible for a recognisable form of congenital muscular dystrophy associated with selective axial muscle weakness and progressive course (L-CMD)

C.P.2.03 Predictive factors of severity and management of respiratory and orthopaedic complications in 16 Ullrich CMD patients

Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?

Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency

Respiratory problems in spinal muscular atrophies

Syndromes myasthéniques congénitaux dus à des mutations du gène de la rapsyne

Autopsies of sudden infant death syndrome-classification and epidemiology

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