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26. 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]
27. [Research advance on the pathogenesis of autosomal recessive spastic ataxia of Charlevoix-Saguenay]. Fu R; Ding M; Lu Z Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):121-124. PubMed ID: 36585015 [TBL] [Abstract][Full Text] [Related]
29. Is the ataxia of Charlevoix-Saguenay a developmental disease? Gazulla J; Vela AC; Marín MA; Pablo L; Santorelli FM; Benavente I; Modrego P; Tintoré M; Berciano J Med Hypotheses; 2011 Sep; 77(3):347-52. PubMed ID: 21665375 [TBL] [Abstract][Full Text] [Related]
30. [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]
31. Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. Prodi E; Grisoli M; Panzeri M; Minati L; Fattori F; Erbetta A; Uziel G; D'Arrigo S; Tessa A; Ciano C; Santorelli FM; Savoiardo M; Mariotti C Eur J Neurol; 2013 Jan; 20(1):138-46. PubMed ID: 22816526 [TBL] [Abstract][Full Text] [Related]
32. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. El Euch-Fayache G; Lalani I; Amouri R; Turki I; Ouahchi K; Hung WY; Belal S; Siddique T; Hentati F Arch Neurol; 2003 Jul; 60(7):982-8. PubMed ID: 12873855 [TBL] [Abstract][Full Text] [Related]
34. Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Chamova T; Ivanova N; Cherninkova S; Koleva M; Zlatareva D; Bojinova V; Mihova K; Georgiev M; Ferdinandov D; Bichev S; Kaneva R; Mitev V; Jordanova A; Tournev I Mol Genet Genomic Med; 2024 Jul; 12(7):e2483. PubMed ID: 39044368 [TBL] [Abstract][Full Text] [Related]
35. A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. Breckpot J; Takiyama Y; Thienpont B; Van Vooren S; Vermeesch JR; Ortibus E; Devriendt K Eur J Hum Genet; 2008 Sep; 16(9):1050-4. PubMed ID: 18398442 [TBL] [Abstract][Full Text] [Related]
36. Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS. Anesi L; de Gemmis P; Pandolfo M; Hladnik U J Mol Neurosci; 2011 Mar; 43(3):346-9. PubMed ID: 20852969 [TBL] [Abstract][Full Text] [Related]
37. [Genetic analysis of a child with Charlevoix-Saguenay spastic ataxia due to variant of SACS gene]. Luo H; Chen X; Rao X; Shen Y; Liu J; Yang Z; Gan J Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 May; 40(5):558-562. PubMed ID: 37102289 [TBL] [Abstract][Full Text] [Related]
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40. 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] [Previous] [Next] [New Search]