296 related articles for article (PubMed ID: 36183078)
1. Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.
Tremblay M; Girard-Côté L; Brais B; Gagnon C
Orphanet J Rare Dis; 2022 Oct; 17(1):369. PubMed ID: 36183078
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.
Lessard I; Côté I; St-Gelais R; Hébert LJ; Brais B; Mathieu J; Rodrigue X; Gagnon C
Cerebellum; 2024 Apr; 23(2):489-501. PubMed ID: 37101017
[TBL] [Abstract][Full Text] [Related]
5. From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Gagnon C; Brais B; Lessard I; Lavoie C; Côté I; Mathieu J
Orphanet J Rare Dis; 2018 Sep; 13(1):165. PubMed ID: 30231904
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. Spastic ataxias.
Bereznyakova O; Dupré N
Handb Clin Neurol; 2018; 155():191-203. PubMed ID: 29891058
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.
Divya KP; Cherian A; Dhing HK; Kumar S; Thomas B; Faruq M
Acta Neurol Belg; 2024 Apr; 124(2):475-484. PubMed ID: 37898963
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.
Ashrafi MR; Mohammadi P; Tavasoli AR; Heidari M; Hosseinpour S; Rasulinejad M; Rohani M; Akbari MG; Malamiri RA; Badv RS; Fathi D; Dehnavi AZ; Savad S; Rabbani A; Synofzik M; Mahdieh N; Rezaei Z
Cerebellum; 2023 Aug; 22(4):640-650. PubMed ID: 35731353
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.
Rezende Filho FM; Bremner F; Pedroso JL; de Andrade JBC; Marianelli BF; Lourenço CM; Marques-Júnior W; França MC; Kok F; Sallum JMF; Parkinson MH; Barsottini OG; Giunti P
Mov Disord; 2021 Sep; 36(9):2027-2035. PubMed ID: 33893680
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Sacsinopathies: sacsin-related ataxia.
Takiyama Y
Cerebellum; 2007; 6(4):353-9. PubMed ID: 17853117
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
