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autosomal recessive hereditary ataxia相关文献:
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
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 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
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: an overview.
Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F.
Parkinsonism Relat Disord. 2011 Jul;17(6):418-22. doi: 10.1016/j.parkreldis.2011.03.005. Epub 2011 Mar 30.
PMID:21450511
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
Bagaria J, Bagyinszky E, An SSA.
Int J Mol Sci. 2022 Jan 4;23(1):552. doi: 10.3390/ijms23010552.
PMID:35008978
Omaveloxolone: a groundbreaking milestone as the first FDA-approved drug for Friedreich ataxia.
Pilotto F, Chellapandi DM, Puccio H.
Trends Mol Med. 2024 Feb;30(2):117-125. doi: 10.1016/j.molmed.2023.12.002. Epub 2024 Jan 24.
PMID:38272714
[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
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