about
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) geneMutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophyA comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severityMutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyMutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophyWorldwide distribution and broader clinical spectrum of muscle-eye-brain diseaseRefining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanSpinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutationsBrain involvement in muscular dystrophies with defective dystroglycan glycosylation.A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.Genetic spectrum of hereditary neuropathies with onset in the first year of lifeA novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesisMAN1B1 deficiency: an unexpected CDG-IIWhole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye InvolvementRiboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotionNuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.Epidemiology of muscular dystrophies in the Mediterranean area.Arthrogryposis and fetal hypomobility syndrome.Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.Spinal muscular atrophy associated with progressive myoclonus epilepsy.Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.Early onset collagen VI myopathies: Genetic and clinical correlations.Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor.Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
P50
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P50
description
hulumtues
@sq
onderzoeker
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researcher
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հետազոտող
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name
Haluk Topaloglu
@ast
Haluk Topaloglu
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Haluk Topaloglu
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Haluk Topaloglu
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Haluk Topaloglu
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type
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Haluk Topaloglu
@ast
Haluk Topaloglu
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Haluk Topaloglu
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Haluk Topaloglu
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Haluk Topaloglu
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prefLabel
Haluk Topaloglu
@ast
Haluk Topaloglu
@en
Haluk Topaloglu
@es
Haluk Topaloglu
@nl
Haluk Topaloglu
@sl
P106
P21
P31
P569
2000-01-01T00:00:00Z