首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
Pubmed相关的文献
congenital cerebellar ataxia相关文献:
Congenital cerebellar ataxia.
Biemond A.
Psychiatr Neurol Neurochir. 1971 Jul-Aug;74(4):303-14.
PMID:5146236
Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A.
Expert Rev Clin Immunol. 2020 Sep;16(9):859-871. doi: 10.1080/1744666X.2020.1810570. Epub 2020 Oct 15.
PMID:32791865
Ataxia-telangiectasia: A review of clinical features and molecular pathology.
Amirifar P, Ranjouri MR, Yazdani R, Abolhassani H, Aghamohammadi A.
Pediatr Allergy Immunol. 2019 May;30(3):277-288. doi: 10.1111/pai.13020. Epub 2019 Mar 20.
PMID:30685876
Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.
Sartorelli J, Travaglini L, Garone G, Dentici ML, Sinibaldi L, Digilio MC, Novelli A, Agolini E, D'Amico A, Bertini E, Nicita F.
Neuropediatrics. 2025 Jun;56(3):185-193. doi: 10.1055/a-2524-9091. Epub 2025 Feb 6.
PMID:39914470
Ataxia in children: early recognition and clinical evaluation.
Pavone P, Praticò AD, Pavone V, Lubrano R, Falsaperla R, Rizzo R, Ruggieri M.
Ital J Pediatr. 2017 Jan 13;43(1):6. doi: 10.1186/s13052-016-0325-9.
PMID:28257643
Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability.
Protasova MS, Andreeva TV, Klyushnikov SA, Illarioshkin SN, Rogaev EI.
Int J Mol Sci. 2023 Jan 12;24(2):1551. doi: 10.3390/ijms24021551.
PMID:36675067
Nonprogressive congenital ataxias.
Bertini E, Zanni G, Boltshauser E.
Handb Clin Neurol. 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8.
PMID:29891079
Non-progressive congenital ataxia with cerebellar hypoplasia in three families.
Yapici Z, Eraksoy M.
Acta Paediatr. 2005 Feb;94(2):248-53. doi: 10.1111/j.1651-2227.2005.tb01902.x.
PMID:15981765
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.
Walker MA, Lerman-Sagie T, Swoboda K, Lev D, Blumkin L.
Am J Med Genet A. 2019 Aug;179(8):1575-1579. doi: 10.1002/ajmg.a.61196. Epub 2019 Jun 5.
PMID:31168944
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze JF, Brice A, Héron D, Stevanin G, Durr A.
Neurology. 2015 Apr 28;84(17):1751-9. doi: 10.1212/WNL.0000000000001524. Epub 2015 Apr 3.
PMID:25841024
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3