236 related articles for article (PubMed ID: 23785480)
1. Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Tzoulis C; Johansson S; Haukanes BI; Boman H; Knappskog PM; Bindoff LA
PLoS One; 2013; 8(6):e66145. PubMed ID: 23785480
[TBL] [Abstract][Full Text] [Related]
2. A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Zeng H; Tang JG; Yang YF; Tan ZP; Tan JQ
Cytogenet Genome Res; 2017; 152(1):16-21. PubMed ID: 28658676
[TBL] [Abstract][Full Text] [Related]
3. Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.
Wang Z; Song Y; Wang X; Li X; Xu F; Si L; Dong Y; Yao T; Zhu J; Lai H; Li W; Lin F; Huang H; Wang C
Neurosci Lett; 2021 May; 752():135831. PubMed ID: 33746006
[TBL] [Abstract][Full Text] [Related]
4. A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Samanci B; Gokalp EE; Bilgic B; Gurvit H; Artan S; Hanagasi HA
Neurol Sci; 2021 Jul; 42(7):2969-2973. PubMed ID: 33559790
[TBL] [Abstract][Full Text] [Related]
5. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.
Krygier M; Konkel A; Schinwelski M; Rydzanicz M; Walczak A; Sildatke-Bauer M; Płoski R; Sławek J
Neurol Neurochir Pol; 2017; 51(6):481-485. PubMed ID: 28843771
[TBL] [Abstract][Full Text] [Related]
6. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.
Aida I; Ozawa T; Fujinaka H; Goto K; Ohta K; Nakajima T
Intern Med; 2021 Dec; 60(24):3963-3967. PubMed ID: 34121011
[TBL] [Abstract][Full Text] [Related]
7. Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Sánchez MG; Pérez JE; Pérez MR; Redondo AG
J Neurol Sci; 2015 Nov; 358(1-2):475-6. PubMed ID: 26344561
[No Abstract] [Full Text] [Related]
8. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Pilliod J; Moutton S; Lavie J; Maurat E; Hubert C; Bellance N; Anheim M; Forlani S; Mochel F; N'Guyen K; Thauvin-Robinet C; Verny C; Milea D; Lesca G; Koenig M; Rodriguez D; Houcinat N; Van-Gils J; Durand CM; Guichet A; Barth M; Bonneau D; Convers P; Maillart E; Guyant-Marechal L; Hannequin D; Fromager G; Afenjar A; Chantot-Bastaraud S; Valence S; Charles P; Berquin P; Rooryck C; Bouron J; Brice A; Lacombe D; Rossignol R; Stevanin G; Benard G; Burglen L; Durr A; Goizet C; Coupry I
Ann Neurol; 2015 Dec; 78(6):871-86. PubMed ID: 26288984
[TBL] [Abstract][Full Text] [Related]
9. [Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay].
Zhang Q; Li H; Chen C; Luan Z; Xu X; Tang S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Mar; 36(3):217-220. PubMed ID: 30835349
[TBL] [Abstract][Full Text] [Related]
10. [Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay].
Li S; Chen Y; Yuan X; Wei Q; Ou R; Gu X; Shang H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):507-510. PubMed ID: 30098244
[TBL] [Abstract][Full Text] [Related]
11. Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Haga R; Miki Y; Funamizu Y; Kon T; Suzuki C; Ueno T; Nishijima H; Arai A; Tomiyama M; Shimazaki H; Takiyama Y; Baba M
Clin Neurol Neurosurg; 2012 Jul; 114(6):746-7. PubMed ID: 22209141
[No Abstract] [Full Text] [Related]
12. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.
Burguêz D; Oliveira CM; Rockenbach MABC; Fussiger H; Vedolin LM; Winckler PB; Maestri MK; Finkelsztejn A; Santorelli FM; Jardim LB; Saute JAM
Arq Neuropsiquiatr; 2017 Jun; 75(6):339-344. PubMed ID: 28658401
[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. Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
Bagaria J; Bagyinszky E; An SSA
Int J Mol Sci; 2022 Jan; 23(1):. PubMed ID: 35008978
[TBL] [Abstract][Full Text] [Related]
15. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene.
Narayanan V; Rice SG; Olfers SS; Sivakumar K
J Child Neurol; 2011 Dec; 26(12):1585-9. PubMed ID: 21745802
[TBL] [Abstract][Full Text] [Related]
16. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the
Srikajon J; Pitakpatapee Y; Limwongse C; Chirapapaisan N; Srivanitchapoom P
Tremor Other Hyperkinet Mov (N Y); 2020 Jun; 10():1. PubMed ID: 32775015
[TBL] [Abstract][Full Text] [Related]
17. Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood.
Sahin T; Karaarslan FT; Yilmaz R; Tekgül Ş; Başak AN; Akbostanci MC
Clin Neurol Neurosurg; 2021 Feb; 201():106423. PubMed ID: 33348119
[No Abstract] [Full Text] [Related]
18. A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient.
Liu L; Li XB; Zi XH; Shen L; Hu ZhM; Huang ShX; Yu DL; Li HB; Xia K; Tang BS; Zhang RX
J Neurol Sci; 2016 Mar; 362():111-4. PubMed ID: 26944128
[TBL] [Abstract][Full Text] [Related]
19. Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Parkinson MH; Bartmann AP; Clayton LMS; Nethisinghe S; Pfundt R; Chapple JP; Reilly MM; Manji H; Wood NJ; Bremner F; Giunti P
Brain; 2018 Apr; 141(4):989-999. PubMed ID: 29538656
[TBL] [Abstract][Full Text] [Related]
20. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Synofzik M; Soehn AS; Gburek-Augustat J; Schicks J; Karle KN; Schüle R; Haack TB; Schöning M; Biskup S; Rudnik-Schöneborn S; Senderek J; Hoffmann KT; MacLeod P; Schwarz J; Bender B; Krüger S; Kreuz F; Bauer P; Schöls L
Orphanet J Rare Dis; 2013 Mar; 8():41. PubMed ID: 23497566
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
