BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

340 related articles for article (PubMed ID: 21827899)

  • 21. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
    Senderek J; Krieger M; Stendel C; Bergmann C; Moser M; Breitbach-Faller N; Rudnik-Schöneborn S; Blaschek A; Wolf NI; Harting I; North K; Smith J; Muntoni F; Brockington M; Quijano-Roy S; Renault F; Herrmann R; Hendershot LM; Schröder JM; Lochmüller H; Topaloglu H; Voit T; Weis J; Ebinger F; Zerres K
    Nat Genet; 2005 Dec; 37(12):1312-4. PubMed ID: 16282977
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. Marinesco-Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex.
    Sakai K; Tada M; Yonemochi Y; Nakajima T; Onodera O; Takahashi H; Kakita A
    Neuropathology; 2008 Oct; 28(5):541-6. PubMed ID: 18410272
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders.
    Berciano J; García A; Infante J
    Handb Clin Neurol; 2013; 115():907-32. PubMed ID: 23931821
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
    Girard M; Larivière R; Parfitt DA; Deane EC; Gaudet R; Nossova N; Blondeau F; Prenosil G; Vermeulen EG; Duchen MR; Richter A; Shoubridge EA; Gehring K; McKinney RA; Brais B; Chapple JP; McPherson PS
    Proc Natl Acad Sci U S A; 2012 Jan; 109(5):1661-6. PubMed ID: 22307627
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.
    Duquette A; Brais B; Bouchard JP; Mathieu J
    Mov Disord; 2013 Dec; 28(14):2011-4. PubMed ID: 23913799
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Movement disorders in mitochondrial diseases.
    Tranchant C; Anheim M
    Rev Neurol (Paris); 2016; 172(8-9):524-529. PubMed ID: 27476418
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
    Anheim M; Fleury M; Monga B; Laugel V; Chaigne D; Rodier G; Ginglinger E; Boulay C; Courtois S; Drouot N; Fritsch M; Delaunoy JP; Stoppa-Lyonnet D; Tranchant C; Koenig M
    Neurogenetics; 2010 Feb; 11(1):1-12. PubMed ID: 19440741
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.
    De Braekeleer M; Giasson F; Mathieu J; Roy M; Bouchard JP; Morgan K
    Genet Epidemiol; 1993; 10(1):17-25. PubMed ID: 8472930
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Sacsinopathies: sacsin-related ataxia.
    Takiyama Y
    Cerebellum; 2007; 6(4):353-9. PubMed ID: 17853117
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome.
    Eriguchi M; Mizuta H; Kurohara K; Fujitake J; Kuroda Y
    J Neurol Sci; 2008 Jul; 270(1-2):197-200. PubMed ID: 18395226
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.
    Prodi E; Grisoli M; Panzeri M; Minati L; Fattori F; Erbetta A; Uziel G; D'Arrigo S; Tessa A; Ciano C; Santorelli FM; Savoiardo M; Mariotti C
    Eur J Neurol; 2013 Jan; 20(1):138-46. PubMed ID: 22816526
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Mercier J; Prévost C; Engert JC; Bouchard JP; Mathieu J; Richter A
    Genet Test; 2001; 5(3):255-9. PubMed ID: 11788093
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias.
    Nikali K; Koskinen T; Suomalainen A; Pihko H; Peltonen L
    Pediatr Res; 1994 Nov; 36(5):607-12. PubMed ID: 7877879
    [TBL] [Abstract][Full Text] [Related]  

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

    [Previous]   [Next]    [New Search]
    of 17.