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Journal Abstract Search
648 related items for PubMed ID: 16763984
1. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. Hiramoto K, Kawakami H, Inoue K, Seki T, Maruyama H, Morino H, Matsumoto M, Kurisu K, Sakai N. Mov Disord; 2006 Sep; 21(9):1355-60. PubMed ID: 16763984 [Abstract] [Full Text] [Related]
3. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Yabe I, Sasaki H, Chen DH, Raskind WH, Bird TD, Yamashita I, Tsuji S, Kikuchi S, Tashiro K. Arch Neurol; 2003 Dec; 60(12):1749-51. PubMed ID: 14676051 [Abstract] [Full Text] [Related]
4. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wüllner U, Brice A, Riess O, Stevanin G. Ann Neurol; 2005 Nov; 58(5):720-9. PubMed ID: 16193476 [Abstract] [Full Text] [Related]
6. Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. Nolte D, Landendinger M, Schmitt E, Müller U. Mov Disord; 2007 Jan 15; 22(2):265-7. PubMed ID: 17149711 [Abstract] [Full Text] [Related]
7. Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. Hara K, Shiga A, Nozaki H, Mitsui J, Takahashi Y, Ishiguro H, Yomono H, Kurisaki H, Goto J, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O. Neurology; 2008 Aug 19; 71(8):547-51. PubMed ID: 18579805 [Abstract] [Full Text] [Related]
8. Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. Miura S, Nakagawara H, Kaida H, Sugita M, Noda K, Motomura K, Ohyagi Y, Ayabe M, Aizawa H, Ishibashi M, Taniwaki T. Clin Neurol Neurosurg; 2009 Feb 19; 111(2):211-5. PubMed ID: 18986758 [Abstract] [Full Text] [Related]
10. SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. Koht J, Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CM. Acta Neurol Scand; 2012 Feb 19; 125(2):116-22. PubMed ID: 21434874 [Abstract] [Full Text] [Related]
11. PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. Visser JE, Bloem BR, van de Warrenburg BP. Mov Disord; 2007 May 15; 22(7):1024-6. PubMed ID: 17343273 [Abstract] [Full Text] [Related]
12. Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene. Wieczorek S, Arning L, Gizewski ER, Alheite I, Timmann D. Mov Disord; 2007 Oct 31; 22(14):2135-6. PubMed ID: 17708558 [No Abstract] [Full Text] [Related]
14. Evidence for a new spinocerebellar ataxia locus. Higgins JJ, Pho LT, Ide SE, Nee LE, Polymeropoulos MH. Mov Disord; 1997 May 31; 12(3):412-7. PubMed ID: 9159738 [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 30; 22(6):857-62. PubMed ID: 17357132 [Abstract] [Full Text] [Related]
16. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Stevanin G, Bouslam N, Thobois S, Azzedine H, Ravaux L, Boland A, Schalling M, Broussolle E, Dürr A, Brice A. Ann Neurol; 2004 Jan 30; 55(1):97-104. PubMed ID: 14705117 [Abstract] [Full Text] [Related]
18. Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. Verbeek DS, van de Warrenburg BP, Wesseling P, Pearson PL, Kremer HP, Sinke RJ. Brain; 2004 Nov 30; 127(Pt 11):2551-7. PubMed ID: 15306549 [Abstract] [Full Text] [Related]
19. Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. Fahey MC, Knight MA, Shaw JH, Gardner RJ, du Sart D, Lockhart PJ, Delatycki MB, Gates PC, Storey E. J Neurol Neurosurg Psychiatry; 2005 Dec 30; 76(12):1720-2. PubMed ID: 16291902 [Abstract] [Full Text] [Related]