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Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaDrug treatment of Duchenne muscular dystrophy: available evidence and perspectivesMutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALSProteomic identification of FHL1 as the protein mutated in human reducing body myopathyPeripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone FracturesGuidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translationalClinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.A multi-source approach to determine SMA incidence and research ready populationLack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.Botulinum toxin treatment in cerebral palsy: evidence for a new treatment option.A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patientsSafety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.Adult care for Duchenne muscular dystrophy in the UK.The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries.Prospective study on anti-ganglioside antibodies in childhood Guillain-Barré syndromePontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutationsThe TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseasesTPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences.Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial.Infections and vaccinations preceding childhood Guillain-Barré syndrome: a prospective study.Sarcoglycanopathies.The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries.Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.Respiratory chain deficiency in nonmitochondrial disease.A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis.Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.Decompressive craniectomy after severe traumatic brain injury in children: complications and outcome.Elevated satellite cell number in Duchenne muscular dystrophy.Role of pyrimidine depletion in the mitochondrial cardiotoxicity of nucleoside analogue reverse transcriptase inhibitors.Oral uridine supplementation antagonizes the peripheral neuropathy and encephalopathy induced by antiretroviral nucleoside analogues.Muscle-fiber transdifferentiation in an experimental model of respiratory chain myopathy.Respiratory chain deficiency precedes the disrupted calcium homeostasis in chronic doxorubicin cardiomyopathy.
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P50
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հետազոտող
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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Janbernd Kirschner
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P214
P227
P244
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0000 0003 5821 8849
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P31
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0000-0003-1618-7386
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1968-01-01T00:00:00Z
P7859
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