463 related articles for article (PubMed ID: 26157035)
1. A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.
Kawarai T; Tajima A; Kuroda Y; Saji N; Orlacchio A; Terasawa H; Shimizu H; Kita Y; Izumi Y; Mitsui T; Imoto I; Kaji R
J Neurol Neurosurg Psychiatry; 2016 Jun; 87(6):656-62. PubMed ID: 26157035
[TBL] [Abstract][Full Text] [Related]
2. Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.
Richmond CM; Leventer R; Ryan MM; Delatycki MB
Clin Genet; 2020 Mar; 97(3):516-520. PubMed ID: 31693170
[TBL] [Abstract][Full Text] [Related]
3. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U
Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
[TBL] [Abstract][Full Text] [Related]
4. Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.
Ali Z; Zulfiqar S; Klar J; Wikström J; Ullah F; Khan A; Abdullah U; Baig S; Dahl N
BMC Med Genet; 2017 Dec; 18(1):144. PubMed ID: 29207948
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
Kume K; Morino H; Miyamoto R; Matsuda Y; Ohsawa R; Kanaya Y; Tada Y; Kurashige T; Kawakami H
BMC Med Genet; 2020 Mar; 21(1):68. PubMed ID: 32234020
[TBL] [Abstract][Full Text] [Related]
7. Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
Kurihara M; Ishiura H; Sasaki T; Otsuka J; Hayashi T; Terao Y; Matsukawa T; Mitsui J; Kaneko J; Nishiyama K; Doi K; Yoshimura J; Morishita S; Shimizu J; Tsuji S
Cerebellum; 2018 Apr; 17(2):237-242. PubMed ID: 28895081
[TBL] [Abstract][Full Text] [Related]
8. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
Jiang C; Gai N; Zou Y; Zheng Y; Ma R; Wei X; Liang D; Wu L
Clin Chim Acta; 2017 Jan; 464():24-29. PubMed ID: 27983999
[TBL] [Abstract][Full Text] [Related]
9. A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.
Almatrafi A; Umair M; Eldardear A; Al-Luqmani M; Hashmi JA; Albalawi AM; Alfadhel M; Ramzan K; Basit S
J Gene Med; 2020 Aug; 22(8):e3196. PubMed ID: 32246862
[TBL] [Abstract][Full Text] [Related]
10. A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.
Cabet S; Putoux A; Carneiro M; Labalme A; Sanlaville D; Guibaud L; Lesca G
Eur J Med Genet; 2019 Oct; 62(10):103726. PubMed ID: 31319223
[TBL] [Abstract][Full Text] [Related]
11. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Thomas AC; Williams H; Setó-Salvia N; Bacchelli C; Jenkins D; O'Sullivan M; Mengrelis K; Ishida M; Ocaka L; Chanudet E; James C; Lescai F; Anderson G; Morrogh D; Ryten M; Duncan AJ; Pai YJ; Saraiva JM; Ramos F; Farren B; Saunders D; Vernay B; Gissen P; Straatmaan-Iwanowska A; Baas F; Wood NW; Hersheson J; Houlden H; Hurst J; Scott R; Bitner-Glindzicz M; Moore GE; Sousa SB; Stanier P
Am J Hum Genet; 2014 Nov; 95(5):611-21. PubMed ID: 25439728
[TBL] [Abstract][Full Text] [Related]
12. Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.
Paternoster L; Soblet J; Aeby A; De Tiège X; Goldman S; Yue WW; Coppens S; Smits G; Vilain C; Deconinck N
Am J Med Genet A; 2020 Nov; 182(11):2685-2693. PubMed ID: 32808436
[TBL] [Abstract][Full Text] [Related]
13. A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.
Mohamadian M; Ghandil P; Naseri M; Bahrami A; Momen AA
J Clin Lab Anal; 2020 Nov; 34(11):e23484. PubMed ID: 33079427
[TBL] [Abstract][Full Text] [Related]
14. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Guissart C; Latypova X; Rollier P; Khan TN; Stamberger H; McWalter K; Cho MT; Kjaergaard S; Weckhuysen S; Lesca G; Besnard T; Õunap K; Schema L; Chiocchetti AG; McDonald M; de Bellescize J; Vincent M; Van Esch H; Sattler S; Forghani I; Thiffault I; Freitag CM; Barbouth DS; Cadieux-Dion M; Willaert R; Guillen Sacoto MJ; Safina NP; Dubourg C; Grote L; Carré W; Saunders C; Pajusalu S; Farrow E; Boland A; Karlowicz DH; Deleuze JF; Wojcik MH; Pressman R; Isidor B; Vogels A; Van Paesschen W; Al-Gazali L; Al Shamsi AM; Claustres M; Pujol A; Sanders SJ; Rivier F; Leboucq N; Cogné B; Sasorith S; Sanlaville D; Retterer K; Odent S; Katsanis N; Bézieau S; Koenig M; Davis EE; Pasquier L; Küry S
Am J Hum Genet; 2018 May; 102(5):744-759. PubMed ID: 29656859
[TBL] [Abstract][Full Text] [Related]
15. Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy.
Li K; Jin R; Wu X
Eur J Med Genet; 2020 Jan; 63(1):103623. PubMed ID: 30684668
[TBL] [Abstract][Full Text] [Related]
16. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
Mallaret M; Synofzik M; Lee J; Sagum CA; Mahajnah M; Sharkia R; Drouot N; Renaud M; Klein FA; Anheim M; Tranchant C; Mignot C; Mandel JL; Bedford M; Bauer P; Salih MA; Schüle R; Schöls L; Aldaz CM; Koenig M
Brain; 2014 Feb; 137(Pt 2):411-9. PubMed ID: 24369382
[TBL] [Abstract][Full Text] [Related]
17. Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
Wiethoff S; Bettencourt C; Paudel R; Madon P; Liu YT; Hersheson J; Wadia N; Desai J; Houlden H
Cerebellum; 2017 Feb; 16(1):262-267. PubMed ID: 26995604
[TBL] [Abstract][Full Text] [Related]
18. Genetic Variant in
Protasova MS; Andreeva TV; Klyushnikov SA; Illarioshkin SN; Rogaev EI
Int J Mol Sci; 2023 Jan; 24(2):. PubMed ID: 36675067
[TBL] [Abstract][Full Text] [Related]
19. Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree.
Makrythanasis P; Guipponi M; Santoni FA; Zaki M; Issa MY; Ansar M; Hamamy H; Antonarakis SE
Hum Genomics; 2016 Jul; 10(1):26. PubMed ID: 27421267
[TBL] [Abstract][Full Text] [Related]
20. Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia.
Zhang D; Dai L; Zhou Z; Hu J; Bai Y; Guo H
Clin Chim Acta; 2019 Jul; 494():64-70. PubMed ID: 30871974
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
