237 related articles for article (PubMed ID: 28778789)
1. A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.
Matthews AM; Tarailo-Graovac M; Price EM; Blydt-Hansen I; Ghani A; Drögemöller BI; Robinson WP; Ross CJ; Wasserman WW; Siden H; van Karnebeek CD
Eur J Med Genet; 2017 Oct; 60(10):548-552. PubMed ID: 28778789
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Novel mutations in the SPAST gene cause hereditary spastic paraplegia.
Zhu Z; Zhang C; Zhao G; Liu Q; Zhong P; Zhang M; Tang W; Zhan F; Tian W; Wang Y; Yin K; Huang X; Jiang J; Liu X; Liu S; Zhou H; Luan X; Tang H; Wang Y; Chen S; Cao L
Parkinsonism Relat Disord; 2019 Dec; 69():125-133. PubMed ID: 31751864
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mo A; Saffari A; Kellner M; Döbler-Neumann M; Jordan C; Srivastava S; Zhang B; Sahin M; Fink JK; Smith L; Posey JE; Alter KE; Toro C; Blackstone C; Soldatos AG; Christie M; Schüle R; Ebrahimi-Fakhari D
Mov Disord; 2022 Dec; 37(12):2440-2446. PubMed ID: 36103453
[TBL] [Abstract][Full Text] [Related]
10. Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.
Gillespie MK; Humphreys P; McMillan HJ; Boycott KM
J Child Neurol; 2018 Apr; 33(5):329-332. PubMed ID: 29421991
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.
Depienne C; Fedirko E; Faucheux JM; Forlani S; Bricka B; Goizet C; Lesourd S; Stevanin G; Ruberg M; Durr A; Brice A
Neurogenetics; 2007 Aug; 8(3):231-3. PubMed ID: 17597328
[TBL] [Abstract][Full Text] [Related]
13. [Atypical spastic paraplegia type 4 due to p.Arg499His mutation in SPAST gene].
Rudenskaya GE; Shestopalova EA; Kadnikova VA; Shchagina OA
Zh Nevrol Psikhiatr Im S S Korsakova; 2022; 122(3):117-120. PubMed ID: 35394730
[TBL] [Abstract][Full Text] [Related]
14. Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.
Magariello A; Muglia M; Patitucci A; Mazzei R; Conforti FL; Gabriele AL; Sprovieri T; Ungaro C; Gambardella A; Mancuso M; Siciliano G; Branca D; Aguglia U; de Angelis MV; Longo K; Quattrone A
Neuromuscul Disord; 2006 Jun; 16(6):387-90. PubMed ID: 16684598
[TBL] [Abstract][Full Text] [Related]
15. Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.
Lebrun N; Parent P; Gendras J; Billuart P; Poirier K; Bienvenu T
Clin Genet; 2017 Dec; 92(6):669-670. PubMed ID: 28960266
[TBL] [Abstract][Full Text] [Related]
16. [A case of spastic paraplegia with SPG4 and SPG3 associated mutations].
Rudenskaya GE; Kuchina AS; Kadnikova VA; Ryzhkova OP
Zh Nevrol Psikhiatr Im S S Korsakova; 2023; 123(5):171-176. PubMed ID: 37315258
[TBL] [Abstract][Full Text] [Related]
17. [Advance of research on Hereditary spastic paraplegia type 4].
Wang J; Liu Y; Zhang L; Zhao L; Liu X; Wang X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jan; 41(1):113-119. PubMed ID: 38171570
[TBL] [Abstract][Full Text] [Related]
18. A Chinese Patient with Spastic Paraplegia Type 4 with a
Xu L; Peng Z; Zhou C; Wang J; Luo H; Lu Q; Bao Z
Case Rep Genet; 2021; 2021():6636855. PubMed ID: 34950521
[TBL] [Abstract][Full Text] [Related]
19. Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia.
Chen YJ; Wang MW; Qiu YS; Yuan RY; Wang N; Lin X; Chen WJ
Mov Disord; 2023 Sep; 38(9):1750-1755. PubMed ID: 37394769
[TBL] [Abstract][Full Text] [Related]
20. Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects.
Chen CP; Chern SR; Wu PS; Chen SW; Wu FT; Wang W
Taiwan J Obstet Gynecol; 2021 Mar; 60(2):341-344. PubMed ID: 33678339
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]