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Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum

Annals of clinical and translational neurology, 2024-08, Vol.11 (8), p.2088-2099

2024

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Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice

Neurology, 2016-08, Vol.87 (8), p.799-805

2016

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Acanthocytosis and HyperCKemia

Turkish journal of haematology, 2018, Vol.35 (4), p.296-297

2018

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Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review

European journal of ophthalmology, 2022-05, Vol.32 (3), p.NP92-NP97

2022

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Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia

Turkish journal of pediatrics, 2019-11, Vol.61 (6), p.931-936

2019

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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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A boy with neck weakness

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

2018

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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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Development of end-stage renal disease at a young age in two cases with Joubert syndrome

Turkish journal of pediatrics, 2014-07, Vol.56 (4), p.458-461

2014

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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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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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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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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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Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA

Brain & development (Tokyo. 1979), 2017-04, Vol.39 (4), p.361-364

2017

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Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum

Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice

Acanthocytosis and HyperCKemia

Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review

Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia

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

A boy with neck weakness

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

Development of end-stage renal disease at a young age in two cases with Joubert syndrome

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?

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

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

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

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA

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