208 related articles for article (PubMed ID: 29915212)
21. Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran.
Komachali SR; Siahpoosh Z; Salehi M
Genomics Inform; 2022 Sep; 20(3):e30. PubMed ID: 36239107
[TBL] [Abstract][Full Text] [Related]
22. Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5.
Lan MY; Yeh TH; Chang YY; Kuo HC; Sun HS; Lai SC; Lu CS
Eur J Neurol; 2015 Jan; 22(1):211-4. PubMed ID: 24641183
[TBL] [Abstract][Full Text] [Related]
23. Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.
Yücel-Yılmaz D; Yücesan E; Yalnızoğlu D; Oğuz KK; Sağıroğlu MŞ; Özbek U; Serdaroğlu E; Bilgiç B; Erdem S; İşeri SAU; Hanağası H; Gürvit H; Özgül RK; Dursun A
Brain Dev; 2018 Jun; 40(6):458-464. PubMed ID: 29544888
[TBL] [Abstract][Full Text] [Related]
24. A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports.
Wang S; Wang Y; Wu Y; Zhang J; Zhang W; Li C; Song X
BMC Neurol; 2022 May; 22(1):200. PubMed ID: 35637455
[TBL] [Abstract][Full Text] [Related]
25. 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; ; Schüle R; Stevanin G; Synofzik M; Basak AN; Baets J
Mov Disord; 2022 Jun; 37(6):1175-1186. PubMed ID: 35150594
[TBL] [Abstract][Full Text] [Related]
26. Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
van Gassen KL; van der Heijden CD; de Bot ST; den Dunnen WF; van den Berg LH; Verschuuren-Bemelmans CC; Kremer HP; Veldink JH; Kamsteeg EJ; Scheffer H; van de Warrenburg BP
Brain; 2012 Oct; 135(Pt 10):2994-3004. PubMed ID: 22964162
[TBL] [Abstract][Full Text] [Related]
27. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.
Thiffault I; Rioux MF; Tetreault M; Jarry J; Loiselle L; Poirier J; Gros-Louis F; Mathieu J; Vanasse M; Rouleau GA; Bouchard JP; Lesage J; Brais B
Brain; 2006 Sep; 129(Pt 9):2332-40. PubMed ID: 16672289
[TBL] [Abstract][Full Text] [Related]
28. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Seong E; Insolera R; Dulovic M; Kamsteeg EJ; Trinh J; Brüggemann N; Sandford E; Li S; Ozel AB; Li JZ; Jewett T; Kievit AJA; Münchau A; Shakkottai V; Klein C; Collins CA; Lohmann K; van de Warrenburg BP; Burmeister M
Ann Neurol; 2018 Jun; 83(6):1075-1088. PubMed ID: 29604224
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.
Chou YT; Hsu SL; Tsai YS; Lu YJ; Yu KW; Wu HM; Liao YC; Lee YC
Ann Clin Transl Neurol; 2023 Sep; 10(9):1603-1612. PubMed ID: 37420318
[TBL] [Abstract][Full Text] [Related]
31. Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.
Lin X; Jiang JY; Hong DJ; Lin KJ; Li JJ; Chen YJ; Qiu YS; Wang Z; Liao YC; Yang K; Shi Y; Wang MW; Hsu SL; Hong S; Zeng YH; Chen XC; Wang N; Lee YC; Chen WJ
Mov Disord; 2024 Jan; 39(1):152-163. PubMed ID: 38014483
[TBL] [Abstract][Full Text] [Related]
32. [Autosomal dominant spastic paraplegias].
Rudenskaya GE; Kadnikova VA; Bessonova LA; Sparber PA; Kurbatov SA; Mironovich OL; Konovalov FA; Ryzhkova OP
Zh Nevrol Psikhiatr Im S S Korsakova; 2021; 121(5):75-87. PubMed ID: 34184482
[TBL] [Abstract][Full Text] [Related]
33. Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec.
Haj Salem I; Beaudin M; Stumpf M; Estiar MA; Côté PO; Brunet F; Gamache PL; Rouleau GA; Mourabit-Amari K; Gan-Or Z; Dupré N
Can J Neurol Sci; 2021 Sep; 48(5):655-665. PubMed ID: 33397523
[TBL] [Abstract][Full Text] [Related]
34. A novel GBA2 gene missense mutation in spastic ataxia.
Votsi C; Zamba-Papanicolaou E; Middleton LT; Pantzaris M; Christodoulou K
Ann Hum Genet; 2014 Jan; 78(1):13-22. PubMed ID: 24252062
[TBL] [Abstract][Full Text] [Related]
35. 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. PubMed ID: 24603320
[TBL] [Abstract][Full Text] [Related]
36. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Synofzik M; Gonzalez MA; Lourenco CM; Coutelier M; Haack TB; Rebelo A; Hannequin D; Strom TM; Prokisch H; Kernstock C; Durr A; Schöls L; Lima-Martínez MM; Farooq A; Schüle R; Stevanin G; Marques W; Züchner S
Brain; 2014 Jan; 137(Pt 1):69-77. PubMed ID: 24355708
[TBL] [Abstract][Full Text] [Related]
37. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.
Klebe S; Azzedine H; Durr A; Bastien P; Bouslam N; Elleuch N; Forlani S; Charon C; Koenig M; Melki J; Brice A; Stevanin G
Brain; 2006 Jun; 129(Pt 6):1456-62. PubMed ID: 16434418
[TBL] [Abstract][Full Text] [Related]
38. Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset.
Brockmann K; Simpson MA; Faber A; Bönnemann C; Crosby AH; Gärtner J
Neuropediatrics; 2005 Aug; 36(4):274-8. PubMed ID: 16138254
[TBL] [Abstract][Full Text] [Related]
39. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
Elleuch N; Depienne C; Benomar A; Hernandez AM; Ferrer X; Fontaine B; Grid D; Tallaksen CM; Zemmouri R; Stevanin G; Durr A; Brice A
Neurology; 2006 Mar; 66(5):654-9. PubMed ID: 16534102
[TBL] [Abstract][Full Text] [Related]
40. A case report of a woman with young onset cognitive impairment associated with hereditary spastic paraplegia due to a mutation in the SPAST gene.
Tisher A; Salardini A
J Neurol Sci; 2016 Aug; 367():131-2. PubMed ID: 27423575
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]