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Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis

European journal of epidemiology, 2020-07, Vol.35 (7), p.643-653

2020

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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Nucleic acids research, 2019-01, Vol.47 (D1), p.D1018-D1027

2019

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The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Human mutation, 2015-04, Vol.36 (4), p.395-402

2015

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Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

Neurology, 2019-09, Vol.93 (10), p.e995

2019

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Duchenne muscular dystrophy and caregiver burden: a systematic review

Developmental medicine and child neurology, 2018-10, Vol.60 (10), p.987-996

2018

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Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease

International journal of molecular sciences, 2023-05, Vol.24 (10), p.8505

2023

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Mutation in TACO1 , encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

Nature genetics, 2009-07, Vol.41 (7), p.833-837

2009

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Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders

Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.141-141, Article 141

2021

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A multi-source approach to determine SMA incidence and research ready population

Journal of neurology, 2017-07, Vol.264 (7), p.1465-1473

2017

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RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

Journal of general internal medicine : JGIM, 2014-08, Vol.29 (Suppl 3), p.780-787

2014

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The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes

Human molecular genetics, 2018-05, Vol.27 (9), p.1556-1564

2018

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SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.18-18, Article 18

2019

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SDHAF1 , encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

Nature genetics, 2009-06, Vol.41 (6), p.654-656

2009

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The risk of re-identification versus the need to identify individuals in rare disease research

European journal of human genetics : EJHG, 2016-11, Vol.24 (11), p.1553-1558

2016

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Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease

Proceedings of the National Academy of Sciences - PNAS, 2016-01, Vol.113 (3), p.746-750

2016

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Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

Clinical and translational science, 2018-01, Vol.11 (1), p.21-27

2018

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Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study

Journal of neuromuscular diseases, 2019-01, Vol.6 (4), p.453-465

2019

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The GA4GH Phenopacket schema defines a computable representation of clinical data

Nature biotechnology, 2022-06, Vol.40 (6), p.817-820

2022

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Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients

Journal of cachexia, sarcopenia and muscle, 2020-04, Vol.11 (2), p.547-563

2020

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Human Skeletal Muscle–derived CD133+ Cells Form Functional Satellite Cells After Intramuscular Transplantation in Immunodeficient Host Mice

Molecular therapy, 2014-05, Vol.22 (5), p.1008-1017

2014

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Clinical features of the myasthenic syndrome arising from mutations in GMPPB

Journal of neurology, neurosurgery and psychiatry, 2016-08, Vol.87 (8), p.802-809

2016

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Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

American journal of human genetics, 2014-09, Vol.95 (3), p.332-339

2014

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Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

Human mutation, 2019-10, Vol.40 (10), p.1797-1812

2019

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Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

Duchenne muscular dystrophy and caregiver burden: a systematic review

Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease

Mutation in TACO1 , encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders

A multi-source approach to determine SMA incidence and research ready population

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy

SDHAF1 , encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

The risk of re-identification versus the need to identify individuals in rare disease research

Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease

Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study

The GA4GH Phenopacket schema defines a computable representation of clinical data

Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients

Human Skeletal Muscle–derived CD133+ Cells Form Functional Satellite Cells After Intramuscular Transplantation in Immunodeficient Host Mice

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

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