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]