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autosomal recessive hereditary ataxia相关文献:
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M.
Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423.
PMID:8596916
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P.
Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5.
PMID:24603320
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.
Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095.
PMID:28459997
Clinical features of Friedreich's ataxia: classical and atypical phenotypes.
Parkinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P.
J Neurochem. 2013 Aug;126 Suppl 1:103-17. doi: 10.1111/jnc.12317.
PMID:23859346
Autosomal-recessive cerebellar ataxias.
Fogel BL.
Handb Clin Neurol. 2018;147:187-209. doi: 10.1016/B978-0-444-63233-3.00013-0.
PMID:29325611
[Diagnostic algorithm for autosomal recessive ataxia].
Nuzhnyi EP, Abramycheva NY, Klyushnikov SA, Seliverstov YA, Vetchinova AS, Pogoda TV, Ershova MV, Fedotova EY, Illarioshkin SN.
Zh Nevrol Psikhiatr Im S S Korsakova. 2019;119(9):74-82. doi: 10.17116/jnevro201911909174.
PMID:31626222
Spastic ataxias.
Bereznyakova O, Dupré N.
Handb Clin Neurol. 2018;155:191-203. doi: 10.1016/B978-0-444-64189-2.00012-3.
PMID:29891058
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.
Arias M, Mir P, Fernández-Matarrubia M, Arpa J, García-Ramos R, Blanco-Arias P, Quintans B, Sobrido MJ.
Neurologia (Engl Ed). 2022 May;37(4):257-262. doi: 10.1016/j.nrleng.2019.01.014. Epub 2021 Apr 10.
PMID:35595401
Recessive ataxias.
Synofzik M, Németh AH.
Handb Clin Neurol. 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6.
PMID:29891078
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.
Aida I, Ozawa T, Fujinaka H, Goto K, Ohta K, Nakajima T.
Intern Med. 2021 Dec 15;60(24):3963-3967. doi: 10.2169/internalmedicine.7401-21. Epub 2021 Jun 12.
PMID:34121011
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