358 related articles for article (PubMed ID: 22307627)
21. 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]
22. 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]
23. 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]
24. 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]
25. 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]
26. Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Kozlov G; Denisov AY; Girard M; Dicaire MJ; Hamlin J; McPherson PS; Brais B; Gehring K
J Biol Chem; 2011 Jun; 286(23):20407-12. PubMed ID: 21507954
[TBL] [Abstract][Full Text] [Related]
27. Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization.
Romano LEL; Aw WY; Hixson KM; Novoselova TV; Havener TM; Howell S; Taylor-Blake B; Hall CL; Xing L; Beri J; Nethisinghe S; Perna L; Hatimy A; Altadonna GC; Graves LM; Herring LE; Hickey AJ; Thalassinos K; Chapple JP; Wolter JM
Cell Rep; 2022 Nov; 41(5):111580. PubMed ID: 36323248
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Short Review: Investigating ARSACS: models for understanding cerebellar degeneration.
Artero Castro A; Machuca C; Rodriguez Jimenez FJ; Jendelova P; Erceg S
Neuropathol Appl Neurobiol; 2019 Oct; 45(6):531-537. PubMed ID: 30636067
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. 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]
32. Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish.
Naef V; Marchese M; Ogi A; Fichi G; Galatolo D; Licitra R; Doccini S; Verri T; Argenton F; Morani F; Santorelli FM
Int J Mol Sci; 2021 Aug; 22(16):. PubMed ID: 34445111
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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]
35. Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Oguz KK; Haliloglu G; Temucin C; Gocmen R; Has AC; Doerschner K; Dolgun A; Alikasifoglu M
AJNR Am J Neuroradiol; 2013 Oct; 34(10):1952-7. PubMed ID: 23598833
[TBL] [Abstract][Full Text] [Related]
36. Sacs R272C missense homozygous mice develop an ataxia phenotype.
Larivière R; Sgarioto N; Márquez BT; Gaudet R; Choquet K; McKinney RA; Watt AJ; Brais B
Mol Brain; 2019 Mar; 12(1):19. PubMed ID: 30866998
[TBL] [Abstract][Full Text] [Related]
37. Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.
Arellano CM; Vilches A; Clemente E; Pascual-Pascual SI; Bolinches-Amorós A; Castro AA; Espinos C; Rodriguez ML; Jendelova P; Erceg S
Stem Cell Res; 2018 Aug; 31():249-252. PubMed ID: 30144656
[TBL] [Abstract][Full Text] [Related]
38. Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Romano A; Tessa A; Barca A; Fattori F; de Leva MF; Terracciano A; Storelli C; Santorelli FM; Verri T
Hum Mutat; 2013 Mar; 34(3):525-37. PubMed ID: 23280630
[TBL] [Abstract][Full Text] [Related]
39. Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS.
Nethisinghe S; Abeti R; Kesavan M; Wigley WC; Giunti P
Int J Mol Sci; 2021 Oct; 22(21):. PubMed ID: 34769152
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
