160 related articles for article (PubMed ID: 33958741)
1. Evidence of mosaicism in SPAST variant carriers in four French families.
Angelini C; Goizet C; Said SA; Camu W; Depienne C; Heron B; Kol B; Guillaud-Bataille M; Pennamen P; Rooryck C; Scherer-Gagou C; Tissier L; Stevanin G; Leguern E; Banneau G
Eur J Hum Genet; 2021 Jul; 29(7):1158-1163. PubMed ID: 33958741
[TBL] [Abstract][Full Text] [Related]
2. A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia.
Yu W; Jin H; Deng J; Nan D; Huang Y
BMC Med Genet; 2020 Jun; 21(1):123. PubMed ID: 32493220
[TBL] [Abstract][Full Text] [Related]
3. A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.
Aulitzky A; Friedrich K; Gläser D; Gastl R; Kubisch C; Ludolph AC; Volk AE
J Neurol Sci; 2014 Dec; 347(1-2):352-5. PubMed ID: 25315759
[TBL] [Abstract][Full Text] [Related]
4. A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene.
Nan H; Okamoto K; Gao L; Morishima Y; Ichinose Y; Koh K; Hashiyada M; Adachi N; Takiyama Y
Intern Med; 2020 Sep; 59(18):2311-2315. PubMed ID: 32522921
[TBL] [Abstract][Full Text] [Related]
5. [Hereditary spastic paraplegia type 4 (SPG4) in Russian patients].
Rudenskaya GE; Kadnikova VA; Sidorova OP; Beetz C; Illarioshkin SN; Dadaly EL; Proskokova TN; Ryzhkova OP
Zh Nevrol Psikhiatr Im S S Korsakova; 2019; 119(11):11-20. PubMed ID: 31851166
[TBL] [Abstract][Full Text] [Related]
6. Novel and recurrent spastin mutations in a large series of SPG4 Italian families.
Nanetti L; Baratta S; Panzeri M; Tomasello C; Lovati C; Azzollini J; Gellera C; Di Bella D; Taroni F; Mariotti C
Neurosci Lett; 2012 Oct; 528(1):42-5. PubMed ID: 22960362
[TBL] [Abstract][Full Text] [Related]
7. The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.
Wang C; Zhang YJ; Xu CH; Li D; Liu ZJ; Wu Y
Mol Genet Genomic Med; 2021 May; 9(5):e1627. PubMed ID: 33638609
[TBL] [Abstract][Full Text] [Related]
8. Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Parodi L; Fenu S; Barbier M; Banneau G; Duyckaerts C; Tezenas du Montcel S; Monin ML; Ait Said S; Guegan J; Tallaksen CME; Sablonniere B; Brice A; Stevanin G; Depienne C; Durr A;
Brain; 2018 Dec; 141(12):3331-3342. PubMed ID: 30476002
[TBL] [Abstract][Full Text] [Related]
9. SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.
Mészárosová AU; Putzová M; Čermáková M; Vávrová D; Doležalová K; Smetanová I; Stejskal D; Beetz C; Seeman P
J Hum Genet; 2016 Oct; 61(10):845-850. PubMed ID: 27334366
[TBL] [Abstract][Full Text] [Related]
10. Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.
Kadnikova VA; Rudenskaya GE; Stepanova AA; Sermyagina IG; Ryzhkova OP
Sci Rep; 2019 Oct; 9(1):14412. PubMed ID: 31594988
[TBL] [Abstract][Full Text] [Related]
11. Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
Svenstrup K; Bross P; Koefoed P; Hjermind LE; Eiberg H; Born AP; Vissing J; Gyllenborg J; Nørremølle A; Hasholt L; Nielsen JE
J Neurol Sci; 2009 Sep; 284(1-2):90-5. PubMed ID: 19423133
[TBL] [Abstract][Full Text] [Related]
12. A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature.
Nan H; Shiraku H; Mizuno T; Takiyama Y
BMC Neurol; 2021 Nov; 21(1):439. PubMed ID: 34753439
[TBL] [Abstract][Full Text] [Related]
13. Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
Park H; Kang SH; Park S; Kim SY; Seo SH; Lee SJ; Lee JA; Cho SI; Sung JJ; Lee KW; Kim JY; Park SS; Seong MW
J Neurol Sci; 2015 Oct; 357(1-2):167-72. PubMed ID: 26208798
[TBL] [Abstract][Full Text] [Related]
14. High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.
Beetz C; Nygren AO; Schickel J; Auer-Grumbach M; Bürk K; Heide G; Kassubek J; Klimpe S; Klopstock T; Kreuz F; Otto S; Schüle R; Schöls L; Sperfeld AD; Witte OW; Deufel T
Neurology; 2006 Dec; 67(11):1926-30. PubMed ID: 17035675
[TBL] [Abstract][Full Text] [Related]
15. Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability.
Kawarai T; Montecchiani C; Miyamoto R; Gaudiello F; Caltagirone C; Izumi Y; Kaji R; Orlacchio A
J Neurol Sci; 2017 Sep; 380():92-97. PubMed ID: 28870597
[TBL] [Abstract][Full Text] [Related]
16. A novel missense mutation in
Wang XC; Liu RH; Wang T; Wang Y; Jiang Y; Chen DD; Wang XY; Hou TS; Kong QX
Mol Med Rep; 2023 Apr; 27(4):. PubMed ID: 36825575
[TBL] [Abstract][Full Text] [Related]
17. Genetic, structural and clinical analysis of spastic paraplegia 4.
Varghaei P; Estiar MA; Ashtiani S; Veyron S; Mufti K; Leveille E; Yu E; Spiegelman D; Rioux MF; Yoon G; Tarnopolsky M; Boycott KM; Dupre N; Suchowersky O; Trempe JF; Rouleau GA; Gan-Or Z
Parkinsonism Relat Disord; 2022 May; 98():62-69. PubMed ID: 35487127
[TBL] [Abstract][Full Text] [Related]
18. [Hereditary spastic paraplegia type 4 (SPG4): clinical and molecular-genetic characteristics].
Rudenskaia GE; Sermiagina IG; Illarioshkin SN; Sidorova OP; Fedotov VP; Poliakov AV
Zh Nevrol Psikhiatr Im S S Korsakova; 2010; 110(6):12-9. PubMed ID: 20559269
[TBL] [Abstract][Full Text] [Related]
19. Exon 8-17 deletions of SPAST in a Chinese family with hereditary spastic paraplegia: a case report and literature review.
Wang K; Zhao G
J Neurol Sci; 2015 Oct; 357(1-2):282-4. PubMed ID: 26165777
[TBL] [Abstract][Full Text] [Related]
20. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V; Sánchez-Ferrero E; Beetz C; Díaz M; Alonso B; Corao AI; Gámez J; Esteban J; Gonzalo JF; Pascual-Pascual SI; López de Munain A; Moris G; Ribacoba R; Márquez C; Rosell J; Marín R; García-Barcina MJ; Del Castillo E; Benito C; Coto E;
BMC Neurol; 2010 Oct; 10():89. PubMed ID: 20932283
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
