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spastic paraplegia相关文献:
Ataxia and spastic paraplegia in mitochondrial disease.
Synofzik M, Rugarli E, Reid E, Schüle R.
Handb Clin Neurol. 2023;194:79-98. doi: 10.1016/B978-0-12-821751-1.00009-9.
PMID:36813322
The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.
Schüle R, Holland-Letz T, Klimpe S, Kassubek J, Klopstock T, Mall V, Otto S, Winner B, Schöls L.
Neurology. 2006 Aug 8;67(3):430-4. doi: 10.1212/01.wnl.0000228242.53336.90.
PMID:16894103
Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies.
Chen X, Dong T, Hu Y, De Pace R, Mattera R, Eberhardt K, Ziegler M, Pirovolakis T, Sahin M, Bonifacino JS, Ebrahimi-Fakhari D, Gray SJ.
J Clin Invest. 2023 May 15;133(10):e164575. doi: 10.1172/JCI164575.
PMID:36951961
Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.
Zhu Z, Hou W, Cao Y, Zheng H, Tian W, Cao L.
Neurogenetics. 2023 Oct;24(4):243-250. doi: 10.1007/s10048-023-00726-8. Epub 2023 Jul 19.
PMID:37468791
Spastic Paraplegia and Ataxia in a Welder.
Mumoli L, Vescio V, Bosco D.
Neurology. 2022 Oct 3;99(14):612-613. doi: 10.1212/WNL.0000000000201107.
PMID:35858819
Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.
Fereshtehnejad SM, Saleh PA, Oliveira LM, Patel N, Bhowmick S, Saranza G, Kalia LV.
Neurol Sci. 2023 Mar;44(3):947-959. doi: 10.1007/s10072-022-06516-8. Epub 2022 Nov 28.
PMID:36441344
[Hereditary spastic paraplegia: up to date].
Takiyama Y.
Rinsho Shinkeigaku. 2014;54(12):1009-11. doi: 10.5692/clinicalneurol.54.1009.
PMID:25519960
[Hereditary spastic paraplegia].
Ekusheva EV, Danilov AB.
Zh Nevrol Psikhiatr Im S S Korsakova. 2002;102(8):44-52.
PMID:12233259
Dysarthria in hereditary spastic paraplegia type 4.
Jacinto-Scudeiro LA, Rothe-Neves R, Dos Santos VB, Machado GD, Burguêz D, Padovani MMP, Ayres A, Rech RS, González-Salazar C, Junior MCF, Saute JAM, Olchik MR.
Clinics (Sao Paulo). 2022 Dec 3;78:100128. doi: 10.1016/j.clinsp.2022.100128. eCollection 2023.
PMID:36473366
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium; Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J.
Mov Disord. 2022 Jun;37(6):1175-1186. doi: 10.1002/mds.28959. Epub 2022 Feb 12.
PMID:35150594
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