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Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy

Scientific reports, 2021-09, Vol.11 (1), p.18161-18161, Article 18161

2021

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Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

JAMA : the journal of the American Medical Association, 2014-07, Vol.312 (1), p.68

2014

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Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects

Journal of human genetics, 2017-04, Vol.62 (4), p.497-501

2017

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Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux

Scientific reports, 2021-04, Vol.11 (1), p.7505-7505, Article 7505

2021

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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

American journal of human genetics, 2016-06, Vol.98 (6), p.1130-1145

2016

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Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

American journal of human genetics, 2013-07, Vol.93 (1), p.6-18

2013

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Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

American journal of human genetics, 2010-12, Vol.87 (6), p.834-841

2010

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Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up

Muscle & nerve, 2012-06, Vol.45 (6), p.796-802

2012

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The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Brain (London, England : 1878), 2007-08, Vol.130 (8), p.2037-2044

2007

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Inflammatory milieu of muscle biopsies in juvenile dermatomyositis

Rheumatology international, 2021-01, Vol.41 (1), p.77-85

2021

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Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

Pediatric neurology, 2019-10, Vol.99, p.69-75

2019

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LARGE expression in different types of muscular dystrophies other than dystroglycanopathy

BMC neurology, 2018-12, Vol.18 (1), p.207-207, Article 207

2018

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Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies

Neuromuscular disorders : NMD, 2014-07, Vol.24 (7), p.624-633

2014

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Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1

Developmental cell, 2001-11, Vol.1 (5), p.717-724

2001

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Surgical Treatment of Childhood Inflammatory Myofibroblastic Tumors

European journal of pediatric surgery, 2017-08, Vol.27 (4), p.319-323

2017

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A Case of Acute Bilateral Ptosis: SURF-1 Mutation

Türk nöroloji dergisi, 2018-03, Vol.24 (1), p.83-85

2018

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Prenatal diagnosis and clinicopathologic examination of a case with diastematomyelia

Congenital anomalies, 2013-12, Vol.53 (4), p.163-165

2013

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Early prednisone treatment in Duchenne muscular dystrophy

Muscle & nerve, 2003-02, Vol.27 (2), p.222-227

2003

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Clinical features, muscle biopsy scores, myositis specific antibody profiles and outcome in juvenile dermatomyositis

Seminars in arthritis and rheumatism, 2021-02, Vol.51 (1), p.95-100

2021

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Early-onset juvenile dermatomyositis: A tertiary referral center experience and review of the literature

Seminars in arthritis and rheumatism, 2023-02, Vol.58, p.152133-152133, Article 152133

2023

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Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients

Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1099-1108

2015

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The Common miRNA Signatures Associated with Mitochondrial Dysfunction in Different Muscular Dystrophies

The American journal of pathology, 2020-10, Vol.190 (10), p.2136-2145

2020

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Alterations in insulin‐like growth factor system in spinal muscular atrophy

Muscle & nerve, 2022-11, Vol.66 (5), p.631-638

2022

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Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy

Journal of neuromuscular diseases, 2024-01, Vol.11 (4), p.883-887

2024

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Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects

Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Inflammatory milieu of muscle biopsies in juvenile dermatomyositis

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

LARGE expression in different types of muscular dystrophies other than dystroglycanopathy

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies

Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1

Surgical Treatment of Childhood Inflammatory Myofibroblastic Tumors

A Case of Acute Bilateral Ptosis: SURF-1 Mutation

Prenatal diagnosis and clinicopathologic examination of a case with diastematomyelia

Early prednisone treatment in Duchenne muscular dystrophy

Clinical features, muscle biopsy scores, myositis specific antibody profiles and outcome in juvenile dermatomyositis

Early-onset juvenile dermatomyositis: A tertiary referral center experience and review of the literature

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients

The Common miRNA Signatures Associated with Mitochondrial Dysfunction in Different Muscular Dystrophies

Alterations in insulin‐like growth factor system in spinal muscular atrophy

Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy

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