BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 17846221)

  • 21. Electromyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
    Bouchard JP; Barbeau A; Bouchard R; Bouchard RW
    Can J Neurol Sci; 1979 May; 6(2):185-9. PubMed ID: 487308
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [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]  

  • 23. A novel mutation in SACS gene in a family from southern Italy.
    Criscuolo C; Banfi S; Orio M; Gasparini P; Monticelli A; Scarano V; Santorelli FM; Perretti A; Santoro L; De Michele G; Filla A
    Neurology; 2004 Jan; 62(1):100-2. PubMed ID: 14718706
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Spastic ataxias.
    Bereznyakova O; Dupré N
    Handb Clin Neurol; 2018; 155():191-203. PubMed ID: 29891058
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Clinical and molecular studies in two new cases of ARSACS.
    Ricca I; Morani F; Bacci GM; Nesti C; Caputo R; Tessa A; Santorelli FM
    Neurogenetics; 2019 Mar; 20(1):45-49. PubMed ID: 30680480
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
    Borruat FX; Holder GE; Bremner F
    Front Neurol; 2017; 8():523. PubMed ID: 29075231
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Unique cerebellar-cerebral form of autosomal recessive ataxia.
    Matsubara E; Nagata T; Kageyama Y; Shiote M; Namba R; Nagano I; Shoji M; Abe K
    Tohoku J Exp Med; 2005 Sep; 207(1):81-5. PubMed ID: 16082159
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families.
    Gücüyener K; Ozgül K; Paternotte C; Erdem H; Prud'homme JF; Ozgüç M; Topaloğlu H
    Neuropediatrics; 2001 Jun; 32(3):142-6. PubMed ID: 11521210
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Distinct phenotypes within autosomal recessive ataxias not linked to already known loci.
    Bouhlal Y; El-Euch-Fayeche G; Amouri R; Hentati F
    Acta Myol; 2005 Oct; 24(2):155-61. PubMed ID: 16550933
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Shah CT; Ward TS; Matsumoto JA; Shildkrot Y
    J AAPOS; 2016 Feb; 20(1):81-3. PubMed ID: 26917082
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family.
    Mrissa N; Belal S; Hamida CB; Amouri R; Turki I; Mrissa R; Hamida MB; Hentati F
    Neurology; 2000 Apr; 54(7):1408-14. PubMed ID: 10751248
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Bouchard JP; Richter A; Mathieu J; Brunet D; Hudson TJ; Morgan K; Melançon SB
    Neuromuscul Disord; 1998 Oct; 8(7):474-9. PubMed ID: 9829277
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.
    Gros-Louis F; Dupré N; Dion P; Fox MA; Laurent S; Verreault S; Sanes JR; Bouchard JP; Rouleau GA
    Nat Genet; 2007 Jan; 39(1):80-5. PubMed ID: 17159980
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.