BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (PubMed ID: 21243258)

  • 21. Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.
    Teive HAG; Camargo CHF; Sato MT; Shiokawa N; Boguszewski CL; Raskin S; Buck C; Seminara SB; Munhoz RP
    Cerebellum; 2018 Jun; 17(3):380-385. PubMed ID: 29248984
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. [Recessive hereditary ataxia with early onset. Clinical study of 27 cases].
    Serlenga L; Trizio M; Pozio G; Oteri G; Caldarazzo M
    Riv Neurol; 1987; 57(5):285-9. PubMed ID: 3445070
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Cerebellar ataxia in the eastern and southern parts of Norway.
    Koht J; Tallaksen CM
    Acta Neurol Scand Suppl; 2007; 187():76-9. PubMed ID: 17419835
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.
    Perez Maturo J; Zavala L; Vega P; González-Morón D; Medina N; Salinas V; Rosales J; Córdoba M; Arakaki T; Garretto N; Rodríguez-Quiroga S; Kauffman MA
    J Hum Genet; 2020 Oct; 65(10):895-902. PubMed ID: 32488064
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Clinical, multimodal electrophysiological study of a family with progressive cerebellar ataxia and late deafness and an autosomal recessive inheritance].
    Ragno M; Curatola L; Rossi R; Salvolini U
    Acta Neurol (Napoli); 1992; 14(4-6):431-9. PubMed ID: 1293986
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.
    D'Arrigo S; Riva D; Bulgheroni S; Chiapparini L; Castellotti B; Gellera C; Pantaleoni C
    J Child Neurol; 2008 Aug; 23(8):895-900. PubMed ID: 18403580
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein.
    Bernard V; Stricker S; Kreuz F; Minnerop M; Gillessen-Kaesbach G; Zühlke C
    Neuropediatrics; 2008 Dec; 39(6):347-50. PubMed ID: 19569000
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Autosomal recessive cerebellar ataxias: the current state of affairs.
    Vermeer S; van de Warrenburg BP; Willemsen MA; Cluitmans M; Scheffer H; Kremer BP; Knoers NV
    J Med Genet; 2011 Oct; 48(10):651-9. PubMed ID: 21856962
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Adult-onset hereditary cerebellar ataxia and neurosensory deafness.
    Schimke RN
    Clin Genet; 1974; 6(5):416-21. PubMed ID: 4434656
    [No Abstract]   [Full Text] [Related]  

  • 32. [Recent advance in genetic study of hereditary autosomal recessive cerebellar ataxia].
    Guan WJ; Wang JL; Tang BS
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):673-6. PubMed ID: 23225047
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Cerebellar and afferent ataxias.
    Pandolfo M; Manto M
    Continuum (Minneap Minn); 2013 Oct; 19(5 Movement Disorders):1312-43. PubMed ID: 24092292
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?
    Jbour AK; Mubaidin AF; Till M; El-Shanti H; Hadidi A; Ajlouni KM
    J Med Genet; 2003 Jan; 40(1):e2. PubMed ID: 12525550
    [No Abstract]   [Full Text] [Related]  

  • 35. Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family.
    Bouhlal Y; Zouari M; Kefi M; Ben Hamida C; Hentati F; Amouri R
    J Neurogenet; 2008; 22(2):139-48. PubMed ID: 18569450
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Okawa S; Sugawara M; Watanabe S; Imota T; Toyoshima I
    J Neurol Neurosurg Psychiatry; 2006 Feb; 77(2):280-2. PubMed ID: 16421146
    [No Abstract]   [Full Text] [Related]  

  • 37. [Symetric cerebellar hypogenesis. (Study of chronic ataxias)].
    Lesný I
    Cesk Pediatr; 1970 Nov; 25(11):530-1. PubMed ID: 5479082
    [No Abstract]   [Full Text] [Related]  

  • 38. [A new form of hereditary ataxia: X-linked congenital cerebellar hypoplasia (a clinical and molecular genetic analysis)].
    Illarioshkin SN; Ivanova-Smolenskaia IA; Markova ED; Nikol'skaia NN; Tsudzi S
    Zh Nevrol Psikhiatr Im S S Korsakova; 1997; 97(10):17-23. PubMed ID: 9424342
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Primary degenerative cerebellar ataxias in ethnic Bengalees in West Bengal: some observations.
    Chakravarty A; Mukherjee SC
    Neurol India; 2003 Jun; 51(2):227-34. PubMed ID: 14571010
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Congenital cerebellar ataxia, mental retardation, and atrophic retinal lesions in two brothers.
    Ferri R; Azan G; Del Gracco S; Elia M; Musumeci SA; Stefanini MC; Toscano G; Setta F
    J Neurol Neurosurg Psychiatry; 1996 Oct; 61(4):424-5. PubMed ID: 8890793
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.