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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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Nuclear Lamins: Laminopathies and Their Role in Premature Ageing

Physiological reviews, 2006-07, Vol.86 (3), p.967-1008

2006

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Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins

Human molecular genetics, 2009-01, Vol.18 (2), p.241-247

2009

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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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Phenotypic clustering of lamin A/C mutations in neuromuscular patients

Neurology, 2007-09, Vol.69 (12), p.1285

2007

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Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

Brain (London, England : 1878), 2006-05, Vol.129 (5), p.1260-1268

2006

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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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Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

Annals of neurology, 2000-08, Vol.48 (2), p.170-180

2000

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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

Volltextzugriff (PDF)

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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Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations

Journal of medical genetics, 2003-08, Vol.40 (8), p.560-567

2003

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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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Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

Muscle & nerve, 2004-10, Vol.30 (4), p.444-450

2004

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Myofibrillar myopathies: State of the art, present and future challenges

Revue neurologique, 2015-10, Vol.171 (10), p.715-729

2015

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Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy

Human genetics, 2011-02, Vol.129 (2), p.149-159

2011

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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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Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC

Revue neurologique, 2016-10, Vol.172 (10), p.594-606

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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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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Heart–hand syndrome of Slovenian type: a new kind of laminopathy

Journal of medical genetics, 2008-10, Vol.45 (10), p.666-671

2008

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The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene

Neurology, 2005-01, Vol.64 (2), p.374

2005

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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

2007

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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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Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern

Neuromuscular disorders : NMD, 2010-08, Vol.20 (8), p.517-523

2010

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

Nuclear Lamins: Laminopathies and Their Role in Premature Ageing

Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins

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

Phenotypic clustering of lamin A/C mutations in neuromuscular patients

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

Mutations in ASAH1 may cause spinal muscular atrophy

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

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

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations

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

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

Myofibrillar myopathies: State of the art, present and future challenges

Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy

OPALE: A patient registry for laminopathies and emerinopathies in France

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC

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

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

Heart–hand syndrome of Slovenian type: a new kind of laminopathy

The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene

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

O03 In vivo gene therapy for striated muscle laminopathy

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern

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