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Stepwise ABC system for classification of any type of genetic variant

European journal of human genetics : EJHG, 2022-02, Vol.30 (2), p.150-159

2022

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Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair

Nature communications, 2020-07, Vol.11 (1), p.3391-3391, Article 3391

2020

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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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A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation

Brain & development (Tokyo. 1979), 2018-06, Vol.40 (6), p.480-483

2018

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The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

Journal of human genetics, 2020-11, Vol.65 (11), p.1003-1017

2020

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Diffusion tensor imaging in pediatric patients with dystonia

NeuroImage (Orlando, Fla.), 2024-02, Vol.287, p.120507-120507, Article 120507

2024

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Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy

PloS one, 2013-11, Vol.8 (11), p.e80263-e80263

2013

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Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients

Human molecular genetics, 2014-12, Vol.23 (24), p.6458-6469

2014

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What Can We Learn From Clinical Trials of Exon Skipping for DMD?

Molecular therapy. Nucleic acids, 2014, Vol.3 (3), p.e152-e152, Article e152

2014

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A boy with neck weakness

Neuromuscular disorders : NMD, 2018-03, Vol.28 (3), p.236-237

2018

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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Nature genetics, 2012-05, Vol.44 (5), p.575-580

2012

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Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia

Journal of human genetics, 2019-08, Vol.64 (8), p.803-813

2019

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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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Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle

Nature communications, 2017-10, Vol.8 (1), p.941-13, Article 941

2017

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PNPT1 mutations may cause Aicardi-Goutières-Syndrome

Brain & development (Tokyo. 1979), 2021-02, Vol.43 (2), p.320-324

2021

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Shorter Intervals of Antenatal Corticosteroid Administration Can Influence Short- and Long-Term Outcomes in Premature Infants

Clinical and experimental obstetrics & gynecology, 2024-04, Vol.51 (4), p.101

2024

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Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies

EMBO molecular medicine, 2014-07, Vol.6 (7), p.918-936

2014

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Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

Human genome variation, 2019-05, Vol.6 (1), p.24-24, Article 24

2019

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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

Brain (London, England : 1878), 2013, Vol.136 (Pt 1), p.269-281

2013

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Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia

Journal of human genetics, 2016-06, Vol.61 (6), p.571-573

2016

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NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

Cell reports (Cambridge), 2013-06, Vol.3 (6), p.1795-1805

2013

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Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights

Journal of child neurology, 2017-07, Vol.32 (8), p.759-765

2017

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Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy

Neuromuscular disorders : NMD, 2017-09, Vol.27 (9), p.836-842

2017

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Stepwise ABC system for classification of any type of genetic variant

Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

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

A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation

The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

Diffusion tensor imaging in pediatric patients with dystonia

Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy

Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

What Can We Learn From Clinical Trials of Exon Skipping for DMD?

A boy with neck weakness

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia

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

Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle

PNPT1 mutations may cause Aicardi-Goutières-Syndrome

Shorter Intervals of Antenatal Corticosteroid Administration Can Influence Short- and Long-Term Outcomes in Premature Infants

Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies

Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights

Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy

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