144 related articles for article (PubMed ID: 23551081)
1. Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.
Maruyama H; Morino H; Miyamoto R; Murakami N; Hamano T; Kawakami H
Clin Genet; 2014 Mar; 85(3):296-7. PubMed ID: 23551081
[No Abstract] [Full Text] [Related]
2. A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.
Ozaki K; Doi H; Mitsui J; Sato N; Iikuni Y; Majima T; Yamane K; Irioka T; Ishiura H; Doi K; Morishita S; Higashi M; Sekiguchi T; Koyama K; Ueda N; Miura Y; Miyatake S; Matsumoto N; Yokota T; Tanaka F; Tsuji S; Mizusawa H; Ishikawa K
JAMA Neurol; 2015 Jul; 72(7):797-805. PubMed ID: 26010696
[TBL] [Abstract][Full Text] [Related]
3. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.
Morino H; Miyamoto R; Ohnishi S; Maruyama H; Kawakami H
BMC Neurol; 2014 Jan; 14():5. PubMed ID: 24397319
[TBL] [Abstract][Full Text] [Related]
4. [Friedreich ataxia--diagnosis after a decade. Differential diagnosis of inherited spinocerebellar ataxias].
Vitaszil E; Jelencsik I; Szirmai I
Ideggyogy Sz; 2002 Nov; 55(11-12):382-93. PubMed ID: 12632799
[TBL] [Abstract][Full Text] [Related]
5. Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.
Vlak MH; Sinke RJ; Rabelink GM; Kremer BP; van de Warrenburg BP
Mov Disord; 2006 Jul; 21(7):1025-8. PubMed ID: 16547918
[TBL] [Abstract][Full Text] [Related]
6. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.
Hiramoto K; Kawakami H; Inoue K; Seki T; Maruyama H; Morino H; Matsumoto M; Kurisu K; Sakai N
Mov Disord; 2006 Sep; 21(9):1355-60. PubMed ID: 16763984
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
Doi H; Yoshida K; Yasuda T; Fukuda M; Fukuda Y; Morita H; Ikeda S; Kato R; Tsurusaki Y; Miyake N; Saitsu H; Sakai H; Miyatake S; Shiina M; Nukina N; Koyano S; Tsuji S; Kuroiwa Y; Matsumoto N
Am J Hum Genet; 2011 Aug; 89(2):320-7. PubMed ID: 21835308
[TBL] [Abstract][Full Text] [Related]
9. Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.
Arias M
Neurologia (Engl Ed); 2019 May; 34(4):248-258. PubMed ID: 27460185
[TBL] [Abstract][Full Text] [Related]
10. Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan.
Aida I; Ozawa T; Ohta K; Fujinaka H; Goto K; Nakajima T
Intern Med; 2022 Aug; 61(16):2517-2521. PubMed ID: 35110481
[TBL] [Abstract][Full Text] [Related]
11. A new autosomal dominant pure cerebellar ataxia.
Storey E; Gardner RJ; Knight MA; Kennerson ML; Tuck RR; Forrest SM; Nicholson GA
Neurology; 2001 Nov; 57(10):1913-5. PubMed ID: 11723290
[TBL] [Abstract][Full Text] [Related]
12. Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.
Renaud M; Anheim M; Kamsteeg EJ; Mallaret M; Mochel F; Vermeer S; Drouot N; Pouget J; Redin C; Salort-Campana E; Kremer HP; Verschuuren-Bemelmans CC; Muller J; Scheffer H; Durr A; Tranchant C; Koenig M
JAMA Neurol; 2014 Oct; 71(10):1305-10. PubMed ID: 25089919
[TBL] [Abstract][Full Text] [Related]
13. Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia.
Liew WK; Ben-Omran T; Darras BT; Prabhu SP; De Vivo DC; Vatta M; Yang Y; Eng CM; Chung WK
JAMA Neurol; 2013 Jun; 70(6):788-91. PubMed ID: 23699708
[TBL] [Abstract][Full Text] [Related]
14. ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
Nanetti L; Sarto E; Castaldo A; Magri S; Mongelli A; Rossi Sebastiano D; Canafoglia L; Grisoli M; Malaguti C; Rivieri F; D'Amico MC; Di Bella D; Franceschetti S; Mariotti C; Taroni F
J Neurol; 2019 Feb; 266(2):378-385. PubMed ID: 30515630
[TBL] [Abstract][Full Text] [Related]
15. Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6.
Reetz K; Costa AS; Mirzazade S; Lehmann A; Juzek A; Rakowicz M; Boguslawska R; Schöls L; Linnemann C; Mariotti C; Grisoli M; Dürr A; van de Warrenburg BP; Timmann D; Pandolfo M; Bauer P; Jacobi H; Hauser TK; Klockgether T; Schulz JB;
Brain; 2013 Mar; 136(Pt 3):905-17. PubMed ID: 23423669
[TBL] [Abstract][Full Text] [Related]
16. A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15.
Breedveld GJ; van Wetten B; te Raa GD; Brusse E; van Swieten JC; Oostra BA; Maat-Kievit JA
J Med Genet; 2004 Nov; 41(11):858-66. PubMed ID: 15520412
[No Abstract] [Full Text] [Related]
17. Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort.
Ozaki K; Ansai A; Nobuhara K; Araki T; Kubodera T; Ishii T; Higashi M; Sato N; Soga K; Mizusawa H; Ishikawa K; Yokota T
Parkinsonism Relat Disord; 2019 Aug; 65():238-242. PubMed ID: 31105016
[TBL] [Abstract][Full Text] [Related]
18. Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1.
Ichikawa Y; Ishiura H; Mitsui J; Takahashi Y; Kobayashi S; Takuma H; Kanazawa I; Doi K; Yoshimura J; Morishita S; Goto J; Tsuji S
J Neurol Sci; 2013 Aug; 331(1-2):158-60. PubMed ID: 23786967
[TBL] [Abstract][Full Text] [Related]
19. Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene.
Nieto A; Pérez-Flores J; Corral-Juan M; Matilla-Dueñas A; Martínez-Burgallo F; Montón F
Neurocase; 2019 Oct; 25(5):195-201. PubMed ID: 31423897
[TBL] [Abstract][Full Text] [Related]
20. Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6.
Schulz JB; Borkert J; Wolf S; Schmitz-Hübsch T; Rakowicz M; Mariotti C; Schöls L; Timmann D; van de Warrenburg B; Dürr A; Pandolfo M; Kang JS; Mandly AG; Nägele T; Grisoli M; Boguslawska R; Bauer P; Klockgether T; Hauser TK
Neuroimage; 2010 Jan; 49(1):158-68. PubMed ID: 19631275
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
