190 related articles for article (PubMed ID: 33414805)
1. Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Habibzadeh P; Tabatabaei Z; Inaloo S; Nashatizadeh MM; Synofzik M; Ostovan VR; Faghihi MA
Front Genet; 2020; 11():585136. PubMed ID: 33414805
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.
Palmio J; Kärppä M; Baumann P; Penttilä S; Moilanen J; Udd B
Clin Case Rep; 2016 Dec; 4(12):1151-1156. PubMed ID: 27980752
[TBL] [Abstract][Full Text] [Related]
6. Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child.
Incecik F; Hergüner OM; Bisgin A
J Pediatr Neurosci; 2018; 13(3):355-357. PubMed ID: 30271475
[TBL] [Abstract][Full Text] [Related]
7. 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]
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. 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]
11. Novel Variants in
Zaman Q; Khan MA; Sahar K; Rehman G; Khan H; Rehman M; Najumuddin ; Ahmad I; Tariq M; Muthaffar OY; Abdulkareem AA; Bibi F; Naseer MI; Faisal MS; Wasif N; Jelani M
Genes (Basel); 2023 Jan; 14(2):. PubMed ID: 36833258
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the
Sharma R; Aravindhan A; Puente C; Veerapandiyan A
J Investig Med High Impact Case Rep; 2022; 10():23247096221139670. PubMed ID: 36458808
[TBL] [Abstract][Full Text] [Related]
14. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.
Richter AM; Ozgul RK; Poisson VC; Topaloglu H
Neurogenetics; 2004 Sep; 5(3):165-70. PubMed ID: 15156359
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. [Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review].
Rudenskaya GE; Kadnikova VA; Ryzhkova OP
Zh Nevrol Psikhiatr Im S S Korsakova; 2020; 120(2):85-91. PubMed ID: 32307416
[TBL] [Abstract][Full Text] [Related]
18. [Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature].
Anheim M; Chaigne D; Fleury M; Santorelli FM; De Sèze J; Durr A; Brice A; Koenig M; Tranchant C
Rev Neurol (Paris); 2008 Apr; 164(4):363-8. PubMed ID: 18439928
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
