176 related articles for article (PubMed ID: 32750061)
21. Familial cognitive impairment with ataxia with oculomotor apraxia.
Mahajnah M; Basel-Vanagaite L; Inbar D; Kornreich L; Weitz R; Straussberg R
J Child Neurol; 2005 Jun; 20(6):523-5. PubMed ID: 15996403
[TBL] [Abstract][Full Text] [Related]
22. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.
Tada M; Yokoseki A; Sato T; Makifuchi T; Onodera O
Adv Exp Med Biol; 2010; 685():21-33. PubMed ID: 20687492
[TBL] [Abstract][Full Text] [Related]
23. [Autosomal recessive cerebellar ataxias with oculomotor apraxia].
Le Ber I; Rivaud-Péchoux S; Brice A; Dürr A
Rev Neurol (Paris); 2006 Feb; 162(2):177-84. PubMed ID: 16518257
[TBL] [Abstract][Full Text] [Related]
24. Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.
van Minkelen R; Guitart M; Escofet C; Yoon G; Elfferich P; Bolman GM; van der Helm R; van de Graaf R; van den Ouweland AM
BMC Med Genet; 2015 Aug; 16():61. PubMed ID: 26285866
[TBL] [Abstract][Full Text] [Related]
25. [Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia].
Ochsner F; Le Ber I; Said G; Moreira MC; Michel P; Koenig M; Dürr A; Brice A; Kuntzer T
Rev Neurol (Paris); 2005 Mar; 161(3):331-6. PubMed ID: 15800456
[TBL] [Abstract][Full Text] [Related]
26. Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.
Ito A; Yamagata T; Mori M; Momoi MY
Pediatr Neurol; 2005 Jul; 33(1):53-6. PubMed ID: 15876520
[TBL] [Abstract][Full Text] [Related]
27. Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
da Costa SCG; Rezende Filho FM; de Freitas JL; de Assis Pereira Matos PCA; Della-Ripa B; França MC; Marques W; Santos M; Cronemberger IVB; Vale TC; Kok F; Alonso I; Pedroso JL; Barsottini OGP
Mov Disord; 2022 Jun; 37(6):1309-1316. PubMed ID: 35426160
[TBL] [Abstract][Full Text] [Related]
28. SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.
Yucesan E; Ugur Iseri SA; Bilgic B; Gormez Z; Bakir Gungor B; Sarac A; Ozdemir O; Sagiroglu M; Gurvit H; Hanagasi H; Ozbek U
Neurol Sci; 2017 Dec; 38(12):2203-2207. PubMed ID: 28687974
[TBL] [Abstract][Full Text] [Related]
29. [Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic].
Rudenskaia GE; Kurkina MV; Zakharova EIu
Zh Nevrol Psikhiatr Im S S Korsakova; 2012; 112(10):58-63. PubMed ID: 23250602
[TBL] [Abstract][Full Text] [Related]
30. Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Coutelier M; Hammer MB; Stevanin G; Monin ML; Davoine CS; Mochel F; Labauge P; Ewenczyk C; Ding J; Gibbs JR; Hannequin D; Melki J; Toutain A; Laugel V; Forlani S; Charles P; Broussolle E; Thobois S; Afenjar A; Anheim M; Calvas P; Castelnovo G; de Broucker T; Vidailhet M; Moulignier A; Ghnassia RT; Tallaksen C; Mignot C; Goizet C; Le Ber I; Ollagnon-Roman E; Pouget J; Brice A; Singleton A; Durr A;
JAMA Neurol; 2018 May; 75(5):591-599. PubMed ID: 29482223
[TBL] [Abstract][Full Text] [Related]
31. Aprataxin mutations are a rare cause of early onset ataxia in Germany.
Habeck M; Zühlke C; Bentele KH; Unkelbach S; Kress W; Bürk K; Schwinger E; Hellenbroich Y
J Neurol; 2004 May; 251(5):591-4. PubMed ID: 15164193
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.
Németh AH; Bochukova E; Dunne E; Huson SM; Elston J; Hannan MA; Jackson M; Chapman CJ; Taylor AM
Am J Hum Genet; 2000 Nov; 67(5):1320-6. PubMed ID: 11022012
[TBL] [Abstract][Full Text] [Related]
35. Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.
Karimzadeh P; Khayatzadeh Kakhki S; Esmail Nejad SS; Houshmand M; Ghofrani M
Iran J Child Neurol; 2017; 11(1):78-81. PubMed ID: 28277561
[TBL] [Abstract][Full Text] [Related]
36. A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.
Algahtani H; Shirah B; Almatrafi S; Al-Qahtani MH; Abdulkareem AA; Naseer MI
Neurol Res; 2021 Feb; 43(2):141-147. PubMed ID: 33012273
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.
Duan X; Hao Y; Cao Z; Zhou C; Zhang J; Wang R; Sun S; Gu W
Cerebellum; 2021 Feb; 20(1):74-82. PubMed ID: 32889669
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
Tumbale P; Schellenberg MJ; Mueller GA; Fairweather E; Watson M; Little JN; Krahn J; Waddell I; London RE; Williams RS
EMBO J; 2018 Jul; 37(14):. PubMed ID: 29934293
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]