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Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features.
- Published in:
- Acta Neurologica Belgica, 2022, v. 122, n. 4, p. 939, doi. 10.1007/s13760-021-01721-2
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- Publication type:
- Article
The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype.
- Published in:
- Neurogenetics, 2020, v. 21, n. 1, p. 73, doi. 10.1007/s10048-019-00594-1
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- Publication type:
- Article
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
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- Neurogenetics, 2019, v. 20, n. 3, p. 117, doi. 10.1007/s10048-019-00576-3
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- Publication type:
- Article
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
- Published in:
- Neurogenetics, 2015, v. 16, n. 1, p. 33, doi. 10.1007/s10048-014-0422-0
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- Publication type:
- Article
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
- Published in:
- 2017
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- Publication type:
- journal article
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
- Published in:
- 2019
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- Publication type:
- journal article
Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages.
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- Balkan Medical Journal, 2022, v. 39, n. 1, p. 3, doi. 10.4274/balkanmedj.galenos.2021.2021-11-13
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- Article
Gene therapy for neurological disorders.
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- Anatomy: International Journal of Experimental & Clinical Anatomy, 2019, v. 13, n. S1, p. S8
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- Publication type:
- Article
Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins].
- Published in:
- Human Mutation, 1999, v. 14, n. 5, p. 449, doi. 10.1002/(SICI)1098-1004(199911)14:5<449::AID-HUMU17>3.0.CO;2-H
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- Publication type:
- Article
Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.
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- Acta Neurologica Scandinavica, 2022, v. 145, n. 5, p. 619, doi. 10.1111/ane.13592
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- Publication type:
- Article
A Family with Vocal Cord Paralysis Associated with GDAP1 Mutation in Giresun, Turkey.
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- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2015, v. 21, n. 3, p. 124, doi. 10.4274/tnd.38358
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- Publication type:
- Article
Hereditary neuropathy with liability to pressure palsy: the clinical and electrophysiological features of four families.
- Published in:
- 2010
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- Publication type:
- Journal Article
Hereditary Neuropathy with Liability to Pressure Palsy: The Clinical and Electrophysiological Features of Four Families.
- Published in:
- 2010
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- Publication type:
- Journal Article
193 Herediter Bas›nca Duyarl› Nöropati: Dört Ailenin Klinik ve Elektrofizyolojik Özellikleri<sup>*</sup>.
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- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2010, v. 16, n. 3, p. 193
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- Publication type:
- Article
Nerve conduction studies in Charcot-Marie-Tooth disease in a cohort from Turkey.
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- Muscle & Nerve, 2011, v. 43, n. 5, p. 657, doi. 10.1002/mus.21932
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- Publication type:
- Article
Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease.
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- Bezmialem Science, 2019, v. 7, n. 3, p. 215, doi. 10.14235/bas.galenos.2018.2847
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- Publication type:
- Article
Pelizaeus Merzbacher ve Pelizaeus Merzbacher-Benzeri Hastalıkta Genotip-Fenotip İlişkisi.
- Published in:
- Bezmialem Science, 2018, v. 6, n. 4, p. 1, doi. 10.14235/bs.2018.2847
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- Publication type:
- Article