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6. 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]
7. 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]
8. 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]
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10. 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]
11. Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS. Ady V; Toscano-Márquez B; Nath M; Chang PK; Hui J; Cook A; Charron F; Larivière R; Brais B; McKinney RA; Watt AJ J Physiol; 2018 Sep; 596(17):4253-4267. PubMed ID: 29928778 [TBL] [Abstract][Full Text] [Related]
12. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family. Pedroso JL; Braga-Neto P; Abrahão A; Rivero RL; Abdalla C; Abdala N; Barsottini OG Arq Neuropsiquiatr; 2011; 69(2B):288-91. PubMed ID: 21625752 [TBL] [Abstract][Full Text] [Related]
13. Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay. Gagnon C; Brais B; Lessard I; Lavoie C; Côté I; Mathieu J Neurology; 2019 Oct; 93(16):e1543-e1549. PubMed ID: 31534027 [TBL] [Abstract][Full Text] [Related]
14. Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Vogel AP; Rommel N; Oettinger A; Stoll LH; Kraus EM; Gagnon C; Horger M; Krumm P; Timmann D; Storey E; Schöls L; Synofzik M J Neurol; 2018 Sep; 265(9):2060-2070. PubMed ID: 29968200 [TBL] [Abstract][Full Text] [Related]
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17. Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay. Lessard I; St-Gelais R; Hébert LJ; Côté I; Mathieu J; Brais B; Gagnon C Orphanet J Rare Dis; 2021 Oct; 16(1):432. PubMed ID: 34649570 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Diplomyelia in a patient with a clinical suspicion of autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS). Dziewulska D Folia Neuropathol; 2020; 58(2):94-99. PubMed ID: 32729297 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]