220 related articles for article (PubMed ID: 29403087)
1. Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.
Doi H; Koyano S; Miyatake S; Nakajima S; Nakazawa Y; Kunii M; Tomita-Katsumoto A; Oda K; Yamaguchi Y; Fukai R; Ikeda S; Kato R; Ogata K; Kubota S; Hayashi N; Takahashi K; Tada M; Tanaka K; Nakashima M; Tsurusaki Y; Miyake N; Saitsu H; Ogi T; Aihara M; Takeuchi H; Matsumoto N; Tanaka F
J Hum Genet; 2018 Apr; 63(4):417-423. PubMed ID: 29403087
[TBL] [Abstract][Full Text] [Related]
2. Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea.
Carré G; Marelli C; Anheim M; Geny C; Renaud M; Rezvani HR; Koenig M; Guissart C; Tranchant C
J Neurol Sci; 2017 May; 376():198-201. PubMed ID: 28431612
[TBL] [Abstract][Full Text] [Related]
3. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
Anheim M; Fleury M; Monga B; Laugel V; Chaigne D; Rodier G; Ginglinger E; Boulay C; Courtois S; Drouot N; Fritsch M; Delaunoy JP; Stoppa-Lyonnet D; Tranchant C; Koenig M
Neurogenetics; 2010 Feb; 11(1):1-12. PubMed ID: 19440741
[TBL] [Abstract][Full Text] [Related]
4. Case report: Variants in the
Kulikowska J; Jakubiuk-Tomaszuk A; Rydzanicz M; Płoski R; Kochanowicz J; Kulakowska A; Kapica-Topczewska K
Front Genet; 2023; 14():1107460. PubMed ID: 36816046
[TBL] [Abstract][Full Text] [Related]
5. Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.
Accogli A; St-Onge J; Addour-Boudrahem N; Lafond-Lapalme J; Laporte AD; Rouleau GA; Rivière JB; Srour M
J Child Neurol; 2020 Feb; 35(2):106-110. PubMed ID: 31617442
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
Berciano J; Peeters K; García A; López-Alburquerque T; Gallardo E; Hernández-Fabián A; Pelayo-Negro AL; De Vriendt E; Infante J; Jordanova A
J Neurol; 2016 Feb; 263(2):361-369. PubMed ID: 26645395
[TBL] [Abstract][Full Text] [Related]
8. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
Synofzik M; Smets K; Mallaret M; Di Bella D; Gallenmüller C; Baets J; Schulze M; Magri S; Sarto E; Mustafa M; Deconinck T; Haack T; Züchner S; Gonzalez M; Timmann D; Stendel C; Klopstock T; Durr A; Tranchant C; Sturm M; Hamza W; Nanetti L; Mariotti C; Koenig M; Schöls L; Schüle R; de Jonghe P; Anheim M; Taroni F; Bauer P
Brain; 2016 May; 139(Pt 5):1378-93. PubMed ID: 27086870
[TBL] [Abstract][Full Text] [Related]
9. Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.
Walker MA; Lerman-Sagie T; Swoboda K; Lev D; Blumkin L
Am J Med Genet A; 2019 Aug; 179(8):1575-1579. PubMed ID: 31168944
[TBL] [Abstract][Full Text] [Related]
10. Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype.
Damásio J; Santos M; Samões R; Araújo M; Macedo M; Sardoeira A; Cavaco S; Freitas J; Barros J; Oliveira J; Sequeiros J
Clin Genet; 2021 Dec; 100(6):743-747. PubMed ID: 34477219
[TBL] [Abstract][Full Text] [Related]
11. Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.
Popp I; Punekar M; Telford N; Stivaros S; Chandler K; Minnis M; Castleton A; Higham C; Hopewell L; Gareth Evans D; Raams A; Theil AF; Meyer S; Schindler D
BMC Med Genet; 2018 Jan; 19(1):7. PubMed ID: 29325523
[TBL] [Abstract][Full Text] [Related]
12. Autosomal recessive cerebellar ataxias.
Palau F; Espinós C
Orphanet J Rare Dis; 2006 Nov; 1():47. PubMed ID: 17112370
[TBL] [Abstract][Full Text] [Related]
13. A Novel Missense Mutation in
Gauhar Z; Tejwani L; Abdullah U; Saeed S; Shafique S; Badshah M; Choi J; Dong W; Nelson-Williams C; Lifton RP; Lim J; Raja GK
Cells; 2022 Sep; 11(19):. PubMed ID: 36231052
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.
Lu C; Zheng YC; Dong Y; Li HF
BMC Neurol; 2016 Sep; 16(1):179. PubMed ID: 27644330
[TBL] [Abstract][Full Text] [Related]
17. Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
Hamza W; Ali Pacha L; Hamadouche T; Muller J; Drouot N; Ferrat F; Makri S; Chaouch M; Tazir M; Koenig M; Benhassine T
BMC Med Genet; 2015 Jun; 16():36. PubMed ID: 26068213
[TBL] [Abstract][Full Text] [Related]
18. Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia.
Lin P; Zhang D; Xu G; Yan C
J Hum Genet; 2018 Apr; 63(4):521-524. PubMed ID: 29362493
[TBL] [Abstract][Full Text] [Related]
19. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Coutelier M; Coarelli G; Monin ML; Konop J; Davoine CS; Tesson C; Valter R; Anheim M; Behin A; Castelnovo G; Charles P; David A; Ewenczyk C; Fradin M; Goizet C; Hannequin D; Labauge P; Riant F; Sarda P; Sznajer Y; Tison F; Ullmann U; Van Maldergem L; Mochel F; Brice A; Stevanin G; Durr A;
Brain; 2017 Jun; 140(6):1579-1594. PubMed ID: 28444220
[TBL] [Abstract][Full Text] [Related]
20. Identifying SYNE1 ataxia and extending the mutational spectrum in Korea.
Kim JS; Kim AR; Youn J; Lee C; Kim NS; Park WY; Park JK; Kim NKD; Cho JW
Parkinsonism Relat Disord; 2019 Jan; 58():74-78. PubMed ID: 30119932
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]