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4. Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan. Yoshida K; Shimizu Y; Morita H; Okano T; Sakai H; Ohata T; Matsumoto N; Nakamura K; Tazawa K; Ohara S; Tabata K; Inoue A; Sato S; Shimojima Y; Hattori T; Ushiyama M; Ikeda S Cerebellum; 2009 Mar; 8(1):46-51. PubMed ID: 18855094 [TBL] [Abstract][Full Text] [Related]
5. Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. Amino T; Ishikawa K; Toru S; Ishiguro T; Sato N; Tsunemi T; Murata M; Kobayashi K; Inazawa J; Toda T; Mizusawa H J Hum Genet; 2007; 52(8):643-649. PubMed ID: 17611710 [TBL] [Abstract][Full Text] [Related]
6. A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano. Ohata T; Yoshida K; Sakai H; Hamanoue H; Mizuguchi T; Shimizu Y; Okano T; Takada F; Ishikawa K; Mizusawa H; Yoshiura KI; Fukushima Y; Ikeda SI; Matsumoto N J Hum Genet; 2006; 51(5):461-466. PubMed ID: 16614795 [TBL] [Abstract][Full Text] [Related]
7. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. Ishikawa K; Toru S; Tsunemi T; Li M; Kobayashi K; Yokota T; Amino T; Owada K; Fujigasaki H; Sakamoto M; Tomimitsu H; Takashima M; Kumagai J; Noguchi Y; Kawashima Y; Ohkoshi N; Ishida G; Gomyoda M; Yoshida M; Hashizume Y; Saito Y; Murayama S; Yamanouchi H; Mizutani T; Kondo I; Toda T; Mizusawa H Am J Hum Genet; 2005 Aug; 77(2):280-96. PubMed ID: 16001362 [TBL] [Abstract][Full Text] [Related]
8. Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. Wieczorek S; Arning L; Alheite I; Epplen JT J Hum Genet; 2006; 51(4):363-367. PubMed ID: 16491300 [TBL] [Abstract][Full Text] [Related]
9. [Peripheral neuropathies associated with hereditary cerebellar ataxias]. Anheim M; Tranchant C Rev Neurol (Paris); 2011 Jan; 167(1):72-6. PubMed ID: 21195440 [TBL] [Abstract][Full Text] [Related]
10. The chromosome 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA): A newly identified degenerative ataxia in Japan showing peculiar morphological changes of the Purkinje cell: The 50th Anniversary of Japanese Society of Neuropathology. Ishikawa K; Mizusawa H Neuropathology; 2010 Oct; 30(5):490-4. PubMed ID: 20667009 [TBL] [Abstract][Full Text] [Related]
11. Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic. Hellenbroich Y; Bernard V; Zühlke C J Neurol; 2008 Apr; 255(4):612-3. PubMed ID: 18293026 [No Abstract] [Full Text] [Related]
12. Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: a novel entity? Wictorin K; Brådvik B; Nilsson K; Soller M; van Westen D; Bynke G; Bauer P; Schöls L; Puschmann A Parkinsonism Relat Disord; 2014 Jul; 20(7):748-54. PubMed ID: 24787759 [TBL] [Abstract][Full Text] [Related]
14. 16q-linked autosomal dominant cerebellar ataxia in a Korean family. Lee PH; Park HY; Jeong SY; Hong JH; Kim HJ Eur J Neurol; 2007 Jun; 14(6):e16-7. PubMed ID: 17539927 [No Abstract] [Full Text] [Related]
15. Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population. Nozaki H; Ikeuchi T; Kawakami A; Kimura A; Koide R; Tsuchiya M; Nakmura Y; Mutoh T; Yamamoto H; Nakao N; Sahashi K; Nishizawa M; Onodera O Mov Disord; 2007 Apr; 22(6):857-62. PubMed ID: 17357132 [TBL] [Abstract][Full Text] [Related]
16. Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan. Hayashi M; Adachi Y; Mori M; Nakano T; Nakashima K Acta Neurol Scand; 2007 Aug; 116(2):123-7. PubMed ID: 17661799 [TBL] [Abstract][Full Text] [Related]
17. Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia. Furiya Y; Hirano M; Nomura M; Asai H; Kiriyama T; Ueno S BMJ Case Rep; 2009; 2009():. PubMed ID: 21686672 [TBL] [Abstract][Full Text] [Related]
18. Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family. Noreau A; La Piana R; Marcoux C; ; Dion PA; Brais B; Bernard G; Rouleau GA Neurogenetics; 2015 Oct; 16(4):315-8. PubMed ID: 26260654 [TBL] [Abstract][Full Text] [Related]
19. New gene of spinocerebellar ataxia. Teive HA; Munhoz RP; Ashizawa T Brain; 2011 Jul; 134(Pt 7):e179. PubMed ID: 21357611 [No Abstract] [Full Text] [Related]
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