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Laminopathies: Why make it simple when it can be complex?

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S150-S151

Bonne, G

2016

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Mutations in ASAH1 may cause spinal muscular atrophy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S225-S225

2015

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A.I.5 - Laminopathies: Why make it simple when it can be complex?

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S150-S151

Bonne, G.

2016

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Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies

NEUROMUSCULAR DISORDERS, 2017, Vol.27, p.S138

2017

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Interest of whole-body muscle MRI for the diagnosis of Pompe disease in rigid spine syndrome and differential diagnosis

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S109-S109

2016

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Gene therapy via trans-splicing for LMNA -related congenital muscular dystrophy (L-CMD)

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S280-S280

2015

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591P DNA damage in LMNA-related congenital muscular dystrophy

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.346

2024

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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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Whole exome sequencing at the Institute of Myology in the context of the Myocapture project to identify novel genes of myopathies

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S299-S299

2015

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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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O03 In vivo gene therapy for striated muscle laminopathy

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S67-S67

2023

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G.P.145

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.844-845

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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G.P.142

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

2014

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D.P.25 Mutation in lamin A/C gene causes mechanotransduction defects in human myoblasts

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.825-825

2012

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P.1.15 Clinical heterogeneity of myopathy related to partial merosin deficiency

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.746-746

2013

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P.5.16 Predominant right ventricular involvement in patients with laminopathies

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.768-769

2013

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G.P.281

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

2014

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P16 Towards a consensus on biochemical outcome measures for Duchenne muscular dystrophy clinical trials

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S11-S11

2014

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P431 Steroid treatment may change natural history in congenital laminopathies

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S160-S160

2023

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P166 Deciphering the genetic cause of oculopharyngodistal myopathy in a French cohort using Cas9-targeted long-read sequencing

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S141-S141

2023

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G.P.92

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.822-822

2014

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Comparison of MkIV balloon and ER-2 aircraft measurements of atmospheric trace gases

Journal of Geophysical Research, Washington, DC, 1999-11, Vol.104 (D21), p.26779-26790

1999

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G.P.18 Muscle pathology and dysfunction in a novel mouse model of COLVI-myopathy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.827-828

2012

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D.P.2 Next generation sequencing after selected DNA capture as a tool for molecular diagnosis of neuromuscular disorders

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.807-808

2012

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Laminopathies: Why make it simple when it can be complex?

Mutations in ASAH1 may cause spinal muscular atrophy

A.I.5 - Laminopathies: Why make it simple when it can be complex?

Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies

Interest of whole-body muscle MRI for the diagnosis of Pompe disease in rigid spine syndrome and differential diagnosis

Gene therapy via trans-splicing for LMNA -related congenital muscular dystrophy (L-CMD)

591P DNA damage in LMNA-related congenital muscular dystrophy

OPALE: A patient registry for laminopathies and emerinopathies in France

Whole exome sequencing at the Institute of Myology in the context of the Myocapture project to identify novel genes of myopathies

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

O03 In vivo gene therapy for striated muscle laminopathy

G.P.145

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

G.P.142

D.P.25 Mutation in lamin A/C gene causes mechanotransduction defects in human myoblasts

P.1.15 Clinical heterogeneity of myopathy related to partial merosin deficiency

P.5.16 Predominant right ventricular involvement in patients with laminopathies

G.P.281

P16 Towards a consensus on biochemical outcome measures for Duchenne muscular dystrophy clinical trials

P431 Steroid treatment may change natural history in congenital laminopathies

P166 Deciphering the genetic cause of oculopharyngodistal myopathy in a French cohort using Cas9-targeted long-read sequencing

G.P.92

Comparison of MkIV balloon and ER-2 aircraft measurements of atmospheric trace gases

G.P.18 Muscle pathology and dysfunction in a novel mouse model of COLVI-myopathy

D.P.2 Next generation sequencing after selected DNA capture as a tool for molecular diagnosis of neuromuscular disorders

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