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Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 883, doi. 10.3233/JND-240022
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- Publication type:
- Article
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain–Barré syndrome.
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- Journal of the Peripheral Nervous System, 2023, v. 28, n. 4, p. 535, doi. 10.1111/jns.12594
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- Publication type:
- Article
Featured Cover.
- Published in:
- Journal of the Peripheral Nervous System, 2021, v. 26, n. 3, p. i, doi. 10.1111/jns.12466
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- Publication type:
- Article
European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision.
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- Journal of the Peripheral Nervous System, 2021, v. 26, n. 3, p. 242, doi. 10.1111/jns.12455
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- Publication type:
- Article
Recurrent vomiting in Panayiotopoulos syndrome.
- Published in:
- 2024
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- Publication type:
- Letter
Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.
- Published in:
- Acta Neurologica Belgica, 2021, v. 121, n. 6, p. 1457, doi. 10.1007/s13760-020-01328-z
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- Publication type:
- Article
Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey.
- Published in:
- Acta Neurologica Belgica, 2017, v. 117, n. 4, p. 857, doi. 10.1007/s13760-017-0786-7
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- Publication type:
- Article
Core myopathies - a short review.
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- Acta Myologica, 2020, v. 39, n. 4, p. 266, doi. 10.36185/2532-1900-029
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- Publication type:
- Article
INVITATION.
- Published in:
- Acta Myologica, 2018, v. 37, n. 1, p. 3
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- Publication type:
- Article
INVITATION.
- Published in:
- Acta Myologica, 2017, v. 36, n. 4, p. 3
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- Publication type:
- Article
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
- Published in:
- 2019
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- Publication type:
- journal article
The effect of aerobic training on motor function and muscle architecture in children with Duchenne muscular dystrophy: A randomized controlled study.
- Published in:
- Clinical Rehabilitation, 2022, v. 36, n. 8, p. 1062, doi. 10.1177/02692155221095491
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- Publication type:
- Article
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease.
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- Neurogenetics, 2007, v. 8, n. 4, p. 279, doi. 10.1007/s10048-007-0096-y
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- Publication type:
- Article
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 4, p. 980, doi. 10.1093/hmg/ddt494
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- Publication type:
- Article
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies.
- Published in:
- JAMA: Journal of the American Medical Association, 2014, v. 312, n. 1, p. 68, doi. 10.1001/jama.2014.7184
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- Publication type:
- Article
Duchenne musküler distrofi'de üst ekstremite dinamik egzersizinin solunum fonksiyonu ve yaşam kalitesi üzerine etkisi.
- Published in:
- 2014
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- Publication type:
- Journal Article
Duchenne musküler distrofi'de üst ekstremite dinamik egzersizinin solunum fonksiyonu ve yaşam kalitesi üzerine etkisi.
- Published in:
- Turkish Journal of Physiotherapy Rehabilitation, 2014, v. 25, n. 2, p. 1, doi. 10.7603/s40680-014-0011-z
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- Publication type:
- Article
Cerebral infarct associated with factor V Leiden mutation in a boy with hemophilia A.
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- American Journal of Hematology, 1997, v. 56, n. 3, p. 189, doi. 10.1002/(SICI)1096-8652(199711)56:3<189::AID-AJH11>3.0.CO;2-6
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- Publication type:
- Article
Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2288, doi. 10.1002/acn3.51218
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- Publication type:
- Article
Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy.
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- Genes, 2022, v. 13, n. 7, p. 1241, doi. 10.3390/genes13071241
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- Publication type:
- Article
Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy.
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- Journal of Pregnancy, 2018, p. 1, doi. 10.1155/2018/9718316
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- Publication type:
- Article
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
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- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 281, doi. 10.1038/ejhg.2012.170
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- Publication type:
- Article
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.
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- European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1055, doi. 10.1038/ejhg.2008.60
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- Publication type:
- Article
Giant axonal neuropathy locus refinement to a < 590 kb critical interval.
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- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 527, doi. 10.1038/sj.ejhg.5200476
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- Publication type:
- Article
Magnetic resonance spectroscopy to assess hepatic steatosis in patients with lipodystrophy.
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- Turkish Journal of Gastroenterology, 2020, v. 31, n. 3, p. 588, doi. 10.5152/tjg.2020.19114
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- Publication type:
- Article
A preliminary report on spinal muscular atrophy lymphoblastoid cell lines: Are they an appropriate tool for drug screening?
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- Advances in Therapy, 2008, v. 25, n. 3, p. 274, doi. 10.1007/s12325-008-0030-1
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- Publication type:
- Article
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
- Published in:
- Nature Genetics, 2009, v. 41, n. 11, p. 1179, doi. 10.1038/ng.464
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- Publication type:
- Article
MAN1B1 Deficiency: An Unexpected CDG-II.
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- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003989
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- Publication type:
- Article
Turkish version of the Egen Klassifikation scale version 2: validity and reliability in the Turkish population.
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- Turkish Journal of Pediatrics, 2015, v. 57, n. 5, p. 643
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- Publication type:
- Article
Turkish version of the Egen Klassifikation scale version 2: validity and reliability in the Turkish population.
- Published in:
- Turkish Journal of Pediatrics, 2014, v. 56, n. 6, p. 643
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- Publication type:
- Article
Treatment of a severe conversion disorder in a 10-year-old boy: a case study and overview.
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- Turkish Journal of Pediatrics, 2012, v. 54, n. 4, p. 413
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- Publication type:
- Article
ATP8A2-related disorders as recessive cerebellar ataxia.
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- Journal of Neurology, 2020, v. 267, n. 1, p. 203, doi. 10.1007/s00415-019-09579-4
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- Publication type:
- Article
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.
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- Journal of Neurology, 2014, v. 261, n. 1, p. 152, doi. 10.1007/s00415-013-7154-1
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- Publication type:
- Article
Prenatal diagnosis of muscle-eye-brain disease.
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- Prenatal Diagnosis, 2007, v. 27, n. 1, p. 51, doi. 10.1002/pd.1622
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- Publication type:
- Article
Genetic Landscape of Dystrofin Gene Deletions and Duplications from Turkey: A single Center Experience.
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- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2021, v. 15, n. 4, p. 319, doi. 10.12956/tchd.913588
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- Publication type:
- Article
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
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- Nature Genetics, 2001, v. 29, n. 1, p. 17, doi. 10.1038/ng713
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- Publication type:
- Article
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
- Published in:
- Nature Genetics, 2000, v. 26, n. 4, p. 480, doi. 10.1038/82638
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- Publication type:
- Article
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 370, doi. 10.1038/81701
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- Publication type:
- Article
Recent therapeutic developments in spinal muscular atrophy.
- Published in:
- Turkish Journal of Medical Sciences, 2018, v. 48, n. 2, p. 203, doi. 10.3906/sag-1712-1
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- Publication type:
- Article
Are Lymphoblastoid Cell Lines Suitable to Study Increased SMN Gene Expression by Histone Deacetylase Inhibitors?
- Published in:
- Turkish Journal of Medical Sciences, 2008, v. 38, n. 1, p. 7
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- Publication type:
- Article
Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings.
- Published in:
- Pediatrics International, 2017, v. 59, n. 1, p. 53, doi. 10.1111/ped.13052
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- Publication type:
- Article
Effect of muscle weakness distribution on balance in neuromuscular disease.
- Published in:
- Pediatrics International, 2015, v. 57, n. 1, p. 92, doi. 10.1111/ped.12428
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- Publication type:
- Article
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
- Published in:
- 2016
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- Publication type:
- journal article
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1099, doi. 10.1007/s10545-015-9856-2
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- Publication type:
- Article
Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-97294-4
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- Publication type:
- Article
Calpain-3 mutations in Turkey.
- Published in:
- 2006
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- Publication type:
- journal article
Analysis of movement disorder-related genes following knockdowns of ano10, wdr81 and vldlr.
- Published in:
- 2018
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- Publication type:
- Abstract
A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity.
- Published in:
- Brain Pathology, 2009, v. 19, n. 4, p. 596, doi. 10.1111/j.1750-3639.2008.00198.x
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- Publication type:
- Article
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1082, doi. 10.1002/humu.20388
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- Publication type:
- Article
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. e228, doi. 10.1093/brain/aws197
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- Publication type:
- Article