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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
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
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
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
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
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
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
[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
Hereditary ataxias.
Evidente VG, Gwinn-Hardy KA, Caviness JN, Gilman S.
Mayo Clin Proc. 2000 May;75(5):475-90. doi: 10.4065/75.5.475.
PMID:10807077
Autosomal recessive cerebellar ataxias.
Palau F, Espinós C.
Orphanet J Rare Dis. 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47.
PMID:17112370
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