405 related articles for article (PubMed ID: 29538656)
1. 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]
2. 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]
3. Retinal and pontine striations: neurodiagnostic signs of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Leavitt JA; Singer W; Brown WL; Pulido JS; Brodsky MC
J Neuroophthalmol; 2014 Dec; 34(4):369-71. PubMed ID: 25237835
[TBL] [Abstract][Full Text] [Related]
4. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene.
Narayanan V; Rice SG; Olfers SS; Sivakumar K
J Child Neurol; 2011 Dec; 26(12):1585-9. PubMed ID: 21745802
[TBL] [Abstract][Full Text] [Related]
5. Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.
Rezende Filho FM; Parkinson MH; Pedroso JL; Poh R; Faber I; Lourenço CM; Júnior WM; França Junior MC; Kok F; Sallum JMF; Giunti P; Barsottini OGP
Parkinsonism Relat Disord; 2019 May; 62():148-155. PubMed ID: 30638817
[TBL] [Abstract][Full Text] [Related]
6. Retinal nerve fiber layer thickening in ARSACS carriers.
van Lint M; Hoornaert K; Ten Tusscher MPM
J Neurol Sci; 2016 Nov; 370():119-122. PubMed ID: 27772739
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Diagnostic Optic Nerve Features in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Hepschke JL; Rajabally YA; Mollan SP
JAMA Neurol; 2023 Jan; 80(1):104-106. PubMed ID: 36374509
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Vingolo EM; Di Fabio R; Salvatore S; Grieco G; Bertini E; Leuzzi V; Nesti C; Filla A; Tessa A; Pierelli F; Santorelli FM; Casali C
Eur J Neurol; 2011 Sep; 18(9):1187-90. PubMed ID: 21410841
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Retinal segmentation as noninvasive technique to demonstrate hyperplasia in ataxia of Charlevoix-Saguenay.
Garcia-Martin E; Pablo LE; Gazulla J; Vela A; Larrosa JM; Polo V; Marques ML; Alfaro J
Invest Ophthalmol Vis Sci; 2013 Oct; 54(10):7137-42. PubMed ID: 24114536
[TBL] [Abstract][Full Text] [Related]
18. [Finding of retinal nerve fiber layer hypertrophy in ataxia of Charlevoix-Saguenay patients].
Garcia-Martin E; Bambo MP; Gazulla J; Larrosa JM; Polo V; Fuertes MI; Fuentes JL; Ferreras A; Pablo LE
Arch Soc Esp Oftalmol; 2014 May; 89(5):207-11. PubMed ID: 24269465
[TBL] [Abstract][Full Text] [Related]
19. New findings in the ataxia of Charlevoix-Saguenay.
Gazulla J; Benavente I; Vela AC; Marín MA; Pablo LE; Tessa A; Barrena MR; Santorelli FM; Nesti C; Modrego P; Tintoré M; Berciano J
J Neurol; 2012 May; 259(5):869-78. PubMed ID: 21993619
[TBL] [Abstract][Full Text] [Related]
20. Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Haga R; Miki Y; Funamizu Y; Kon T; Suzuki C; Ueno T; Nishijima H; Arai A; Tomiyama M; Shimazaki H; Takiyama Y; Baba M
Clin Neurol Neurosurg; 2012 Jul; 114(6):746-7. PubMed ID: 22209141
[No Abstract] [Full Text] [Related]
[Next] [New Search]