272 related articles for article (PubMed ID: 23250129)
1. Diversity of ARSACS mutations in French-Canadians.
Thiffault I; Dicaire MJ; Tetreault M; Huang KN; Demers-Lamarche J; Bernard G; Duquette A; Larivière R; Gehring K; Montpetit A; McPherson PS; Richter A; Montermini L; Mercier J; Mitchell GA; Dupré N; Prévost C; Bouchard JP; Mathieu J; Brais B
Can J Neurol Sci; 2013 Jan; 40(1):61-6. PubMed ID: 23250129
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Sacsinopathies: sacsin-related ataxia.
Takiyama Y
Cerebellum; 2007; 6(4):353-9. PubMed ID: 17853117
[TBL] [Abstract][Full Text] [Related]
8. ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
Vermeer S; Meijer RP; Pijl BJ; Timmermans J; Cruysberg JR; Bos MM; Schelhaas HJ; van de Warrenburg BP; Knoers NV; Scheffer H; Kremer B
Neurogenetics; 2008 Jul; 9(3):207-14. PubMed ID: 18465152
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.
Kamada S; Okawa S; Imota T; Sugawara M; Toyoshima I
J Neurol; 2008 Jun; 255(6):803-6. PubMed ID: 18484239
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. [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]
13. 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]
14. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
Grieco GS; Malandrini A; Comanducci G; Leuzzi V; Valoppi M; Tessa A; Palmeri S; Benedetti L; Pierallini A; Gambelli S; Federico A; Pierelli F; Bertini E; Casali C; Santorelli FM
Neurology; 2004 Jan; 62(1):103-6. PubMed ID: 14718707
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆.
Aly KA; Moutaoufik MT; Zilocchi M; Phanse S; Babu M
Curr Opin Chem Biol; 2022 Dec; 71():102211. PubMed ID: 36126381
[TBL] [Abstract][Full Text] [Related]
18. Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.
Blumkin L; Bradshaw T; Michelson M; Kopler T; Dahari D; Lerman-Sagie T; Lev D; Chapple JP; Leshinsky-Silver E
Eur J Paediatr Neurol; 2015 Jul; 19(4):472-6. PubMed ID: 25819952
[TBL] [Abstract][Full Text] [Related]
19. A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
Gregianin E; Vazza G; Scaramel E; Boaretto F; Vettori A; Leonardi E; Tosatto SC; Manara R; Pegoraro E; Mostacciuolo ML
Eur J Neurol; 2013 Nov; 20(11):1486-91. PubMed ID: 23800155
[TBL] [Abstract][Full Text] [Related]
20. Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.
Longo F; De Ritis D; Miluzio A; Fraticelli D; Baets J; Scarlato M; Santorelli FM; Biffo S; Maltecca F
Neurology; 2021 Dec; 97(23):e2315-e2327. PubMed ID: 34649874
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
