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Hereditary myopathy with early respiratory failure: occurrence in various populations

Journal of neurology, neurosurgery and psychiatry, 2014-03, Vol.85 (3), p.345-353

2014

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G.P.20

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.800-800

2014

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The genetic panorama in titin gene by re-sequencing projects

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

2016

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P.15.8 Hereditary myopathy with early respiratory failure (HMERF) – Rapid increase of identified titinopathy families worldwide

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.820-821

2013

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A.P.4

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.831-832

2014

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Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5

Neurology, 2012-03, Vol.78 (12), p.897-903

2012

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P.3.11 Atypical phenotypes in titinopathies explained by second titin mutations and compound heterozygosity

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.758-759

2013

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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

European journal of neurology, 2018-05, Vol.25 (5), p.790-794

2018

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Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

Annals of neurology, 2013-04, Vol.73 (4), p.500-509

2013

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G.P.20: A targeted next-generation sequencing panel for diagnostic use in primary myopathies

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.800-800

2014

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P.80 - The genetic panorama in titin gene by re-sequencing projects

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

2016

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Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S282-S283

2015

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G.P.17

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.799-799

2014

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Targeted next-generation sequencing as a diagnostic tool in neuromuscular disorders

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S162-S162

2016

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A novel mutation in DNAJB6 causes LGMD1D in two French families

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S236-S236

2015

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A.P.4: Cytoplasmic bodies in the muscle of HMERF patients with TTN A150/FN3 119 and kinase domain mutations – An immunofluorescent analysis

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.831-832

2014

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G.P.283

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

2014

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GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology

Journal of neuromuscular diseases, 2016-05, Vol.3 (2), p.283-288

2016

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Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy

Journal of neuromuscular diseases, 2016-05, Vol.3 (2), p.275-281

2016

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G.P.35 Identical TTN gene A-band mutation causing HMERF occurs in different European populations

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.818-819

2012

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G.O.1 Welander distal myopathy is caused by a mutated RNA binding protein

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.873-873

2012

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Hereditary myopathy with early respiratory failure (HMERF) - Rapid increase of identified titinopathy families worldwide

NEUROMUSCULAR DISORDERS, 2013, Vol.23 (9-10), p.820

2013

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Cytoplasmic bodies in the muscle of HMERF patients with TTN A150/FN3 119 and kinase domain mutations - An immunofluorescent analysis

NEUROMUSCULAR DISORDERS, 2014, Vol.24 (9-10), p.831

2014

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G.P.17: TTN a challenge for next generation sequencing

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.799-799

2014

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Identical TTN gene A-band mutation causing HMERF occurs in different European populations

NEUROMUSCULAR DISORDERS, 2012, Vol.22 (9-10), p.818

2012

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Hereditary myopathy with early respiratory failure: occurrence in various populations

G.P.20

The genetic panorama in titin gene by re-sequencing projects

P.15.8 Hereditary myopathy with early respiratory failure (HMERF) – Rapid increase of identified titinopathy families worldwide

A.P.4

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5

P.3.11 Atypical phenotypes in titinopathies explained by second titin mutations and compound heterozygosity

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

G.P.20: A targeted next-generation sequencing panel for diagnostic use in primary myopathies

P.80 - The genetic panorama in titin gene by re-sequencing projects

Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy

G.P.17

Targeted next-generation sequencing as a diagnostic tool in neuromuscular disorders

A novel mutation in DNAJB6 causes LGMD1D in two French families

A.P.4: Cytoplasmic bodies in the muscle of HMERF patients with TTN A150/FN3 119 and kinase domain mutations – An immunofluorescent analysis

G.P.283

GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy

G.P.35 Identical TTN gene A-band mutation causing HMERF occurs in different European populations

G.O.1 Welander distal myopathy is caused by a mutated RNA binding protein

Hereditary myopathy with early respiratory failure (HMERF) - Rapid increase of identified titinopathy families worldwide

Cytoplasmic bodies in the muscle of HMERF patients with TTN A150/FN3 119 and kinase domain mutations - An immunofluorescent analysis

G.P.17: TTN a challenge for next generation sequencing

Identical TTN gene A-band mutation causing HMERF occurs in different European populations

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