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hereditary ataxia with muscle atrophy相关文献:
Connections between neural muscle atrophy and hereditary ataxia (Friedreich).
PMID:
A Diagnostic Approach to Spastic ataxia Syndromes.
Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP.
Cerebellum. 2022 Dec;21(6):1073-1084. doi: 10.1007/s12311-021-01345-5. Epub 2021 Nov 15.
PMID:34782953
Mitochondrial Retinopathies.
Zeviani M, Carelli V.
Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210.
PMID:35008635
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
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.
Santos M, Damásio J, Carmona S, Neto JL, Dehghani N, Guedes LC, Barbot C, Barros J, Brás J, Sequeiros J, Guerreiro R.
Cells. 2022 Mar 12;11(6):981. doi: 10.3390/cells11060981.
PMID:35326432
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
Hereditary optic neuropathies.
Newman NJ, Biousse V.
Eye (Lond). 2004 Nov;18(11):1144-60. doi: 10.1038/sj.eye.6701591.
PMID:15534600
Hereditary Myelopathies.
Hedera P.
Continuum (Minneap Minn). 2018 Apr;24(2, Spinal Cord Disorders):523-550. doi: 10.1212/CON.0000000000000580.
PMID:29613898
Autophagy and Polyglutamine Disease.
Ren H, Hao Z, Wang G.
Adv Exp Med Biol. 2020;1207:149-161. doi: 10.1007/978-981-15-4272-5_9.
PMID:32671744
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H.
Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20.
PMID:35986737
[Treatment for Spinocerebellar Degeneration].
Matsushima M, Yabe I.
Brain Nerve. 2023 May;75(5):498-502. doi: 10.11477/mf.1416202366.
PMID:37194519
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