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Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

American journal of human genetics, 2013-02, Vol.92 (2), p.271-278

2013

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Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton

Developmental cell, 2015-10, Vol.35 (2), p.186-198

2015

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Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Annals of neurology, 2013-12, Vol.74 (6), p.914-919

2013

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SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

The New England journal of medicine, 2016-02, Vol.374 (8), p.795-797

2016

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Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation

eLife, 2023-04, Vol.12

2023

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Centronuclear Myopathies

Seminars in pediatric neurology, 2011-12, Vol.18 (4), p.250-256

2011

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Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

American journal of human genetics, 2009-09, Vol.85 (3), p.338-353

2009

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A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice

Human molecular genetics, 2010-12, Vol.19 (24), p.4820-4836

2010

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Mutations in dynamin 2 cause dominant centronuclear myopathy

Nature genetics, 2005-11, Vol.37 (11), p.1207-1209

2005

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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Brain (London, England : 1878), 2014-12, Vol.137 (Pt 12), p.3160-3170

2014

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Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene

Stem cell research, 2024-06, Vol.77, p.103411-103411, Article 103411

2024

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Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene

Stem cell research, 2024-06, Vol.77, p.103410-103410, Article 103410

2024

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De novo LMNA mutations cause a new form of congenital muscular dystrophy

Annals of neurology, 2008-08, Vol.64 (2), p.177-186

2008

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Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene

Stem cell research, 2023-12, Vol.73, p.103258-103258, Article 103258

2023

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Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant

Frontiers in genetics, 2023-03, Vol.13, p.955041-955041

2023

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Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency

Human molecular genetics, 2011-02, Vol.20 (4), p.694-704

2011

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An integrated diagnosis strategy for congenital myopathies

PloS one, 2013-06, Vol.8 (6), p.e67527-e67527

2013

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Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene

Stem cell research, 2022-08, Vol.63, p.102830-102830, Article 102830

2022

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Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene

Stem cell research, 2021-05, Vol.53, p.102273-102273, Article 102273

2021

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Mutations in TPM3 are a common cause of congenital fiber type disproportion

Annals of neurology, 2008-03, Vol.63 (3), p.329-337

2008

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Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene

Stem cell research, 2022-08, Vol.63, p.102829-102829, Article 102829

2022

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Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene

Stem cell research, 2021-08, Vol.55, p.102482-102482, Article 102482

2021

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Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin

JCI insight, 2020-09, Vol.5 (18)

2020

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rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy

Acta neuropathologica communications, 2020-10, Vol.8 (1), p.167-167, Article 167

2020

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Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation

Centronuclear Myopathies

Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice

Mutations in dynamin 2 cause dominant centronuclear myopathy

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene

Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene

De novo LMNA mutations cause a new form of congenital muscular dystrophy

Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene

Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency

An integrated diagnosis strategy for congenital myopathies

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene

Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene

Mutations in TPM3 are a common cause of congenital fiber type disproportion

Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene

Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin

rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy

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