These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
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. 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]
7. A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Miyatake S; Miyake N; Doi H; Saitsu H; Ogata K; Kawai M; Matsumoto N Intern Med; 2012; 51(16):2221-6. PubMed ID: 22892508 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. Bouhlal Y; Amouri R; El Euch-Fayeche G; Hentati F Parkinsonism Relat Disord; 2011 Jul; 17(6):418-22. PubMed ID: 21450511 [TBL] [Abstract][Full Text] [Related]
11. [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]
17. 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]
19. ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India. Kuchay RAH; Mir YR; Zeng X; Hassan A; Musarrat J; Parwez I; Kernstock C; Traschütz A; Synofzik M Cerebellum; 2019 Aug; 18(4):807-812. PubMed ID: 30963395 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]