142 related articles for article (PubMed ID: 38180701)
1. The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.
Avila-Jaque D; Martin F; Bustamante ML; Luna Álvarez M; Fernández JM; Dávila Ortiz de Montellano DJ; Pardo R; Varela D; Miranda M
Cerebellum; 2024 Jan; ():. PubMed ID: 38180701
[TBL] [Abstract][Full Text] [Related]
2. Novel SCA19/22-associated KCND3 mutations disrupt human K
Hsiao CT; Fu SJ; Liu YT; Lu YH; Zhong CY; Tang CY; Soong BW; Jeng CJ
Hum Mutat; 2019 Nov; 40(11):2088-2107. PubMed ID: 31293010
[TBL] [Abstract][Full Text] [Related]
3. Novel
Zanni G; Hsiao CT; Fu SJ; Tang CY; Capuano A; Bosco L; Graziola F; Bellacchio E; Servidei S; Primiano G; Soong BW; Jeng CJ
Int J Mol Sci; 2021 May; 22(9):. PubMed ID: 34067185
[No Abstract] [Full Text] [Related]
4. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Duarri A; Jezierska J; Fokkens M; Meijer M; Schelhaas HJ; den Dunnen WF; van Dijk F; Verschuuren-Bemelmans C; Hageman G; van de Vlies P; Küsters B; van de Warrenburg BP; Kremer B; Wijmenga C; Sinke RJ; Swertz MA; Kampinga HH; Boddeke E; Verbeek DS
Ann Neurol; 2012 Dec; 72(6):870-80. PubMed ID: 23280838
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.
Paucar M; Bergendal Å; Gustavsson P; Nordenskjöld M; Laffita-Mesa J; Savitcheva I; Svenningsson P
Cerebellum; 2018 Aug; 17(4):465-476. PubMed ID: 29527639
[TBL] [Abstract][Full Text] [Related]
7. Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Chelban V; Wiethoff S; Fabian-Jessing BK; Haridy NA; Khan A; Efthymiou S; Becker EBE; O'Connor E; Hersheson J; Newland K; Hojland AT; Gregersen PA; Lindquist SG; Petersen MB; Nielsen JE; Nielsen M; Wood NW; Giunti P; Houlden H
Mov Disord; 2018 Jul; 33(7):1119-1129. PubMed ID: 29603387
[TBL] [Abstract][Full Text] [Related]
8. Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.
Huin V; Strubi-Vuillaume I; Dujardin K; Brion M; Delliaux M; Dellacherie D; Cuvellier JC; Cuisset JM; Riquet A; Moreau C; Defebvre L; Sablonnière B; Devos D
Parkinsonism Relat Disord; 2017 Dec; 45():85-89. PubMed ID: 28947073
[TBL] [Abstract][Full Text] [Related]
9. Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22.
Li M; Liu F; Hao X; Fan Y; Li J; Hu Z; Shi J; Fan L; Zhang S; Ma D; Guo M; Xu Y; Shi C
Front Mol Neurosci; 2022; 15():919199. PubMed ID: 35813061
[TBL] [Abstract][Full Text] [Related]
10. Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia.
Tada Y; Kume K; Matsuda Y; Kurashige T; Kanaya Y; Ohsawa R; Morino H; Tabu H; Kaneko S; Suenaga T; Kakizuka A; Kawakami H
J Hum Genet; 2020 Apr; 65(4):363-369. PubMed ID: 31907387
[TBL] [Abstract][Full Text] [Related]
11. Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.
Duarri A; Lin MC; Fokkens MR; Meijer M; Smeets CJ; Nibbeling EA; Boddeke E; Sinke RJ; Kampinga HH; Papazian DM; Verbeek DS
Cell Mol Life Sci; 2015 Sep; 72(17):3387-99. PubMed ID: 25854634
[TBL] [Abstract][Full Text] [Related]
12. V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.
Paucar M; Ågren R; Li T; Lissmats S; Bergendal Å; Weinberg J; Nilsson D; Savichetva I; Sahlholm K; Nilsson J; Svenningsson P
Neurol Genet; 2021 Feb; 7(1):e546. PubMed ID: 33575485
[TBL] [Abstract][Full Text] [Related]
13. Generation of induced pluripotent stem cell line (ZZUi0021-A) from a patient with spinocerebellar ataxia type 19.
Liu F; Fan Y; Fan L; Li M; Zhang Q; Mao C; Wu J; Zhang S; Hu Z; Shi C; Xu Y
Stem Cell Res; 2021 May; 53():102320. PubMed ID: 34087979
[TBL] [Abstract][Full Text] [Related]
14. 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]
15.
Pollini L; Galosi S; Tolve M; Caputi C; Carducci C; Angeloni A; Leuzzi V
Int J Mol Sci; 2020 Aug; 21(16):. PubMed ID: 32823520
[No Abstract] [Full Text] [Related]
16. Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation.
Contaldi E; Gallo S; Corrado L; D'Alfonso S; Magistrelli L
Cerebellum; 2024 Jun; 23(3):1226-1230. PubMed ID: 37857779
[TBL] [Abstract][Full Text] [Related]
17. Mutations in KCND3 cause spinocerebellar ataxia type 22.
Lee YC; Durr A; Majczenko K; Huang YH; Liu YC; Lien CC; Tsai PC; Ichikawa Y; Goto J; Monin ML; Li JZ; Chung MY; Mundwiller E; Shakkottai V; Liu TT; Tesson C; Lu YC; Brice A; Tsuji S; Burmeister M; Stevanin G; Soong BW
Ann Neurol; 2012 Dec; 72(6):859-69. PubMed ID: 23280837
[TBL] [Abstract][Full Text] [Related]
18. Rare Gain-of-Function
Hsiao CT; Tropea TF; Fu SJ; Bardakjian TM; Gonzalez-Alegre P; Soong BW; Tang CY; Jeng CJ
Int J Mol Sci; 2021 Jul; 22(15):. PubMed ID: 34361012
[TBL] [Abstract][Full Text] [Related]
19. Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study.
Choubtum L; Witoonpanich P; Hanchaiphiboolkul S; Bhidayasiri R; Jitkritsadakul O; Pongpakdee S; Wetchaphanphesat S; Boonkongchuen P; Pulkes T
BMC Neurol; 2015 Sep; 15():166. PubMed ID: 26374734
[TBL] [Abstract][Full Text] [Related]
20. An E280K Missense Variant in
Ågren R; Geerdink N; Brunner HG; Paucar M; Kamsteeg EJ; Sahlholm K
Int J Mol Sci; 2023 Jun; 24(13):. PubMed ID: 37446101
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
