Works matching IS 13646745 AND DT 2013 AND VI 14 AND IP 1

Results: 10

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.

Published in:

Neurogenetics, 2013, v. 14, n. 1, p. 77, doi. 10.1007/s10048-012-0352-7

By:

Quattrocchi, Carlo;
Zanni, Ginevra;
Napolitano, Antonio;
Longo, Daniela;
Cordelli, Duccio;
Barresi, Sabina;
Randisi, Francesco;
Valente, Enza;
Verdolotti, Tommaso;
Genovese, Elisabetta;
Specchio, Nicola;
Vitiello, Giuseppina;
Spiegel, Ronen;
Bertini, Enrico;
Bernardi, Bruno

Publication type:

Article

Splice variants of the Alzheimer's disease beta-secretase, BACE1.

Published in:

Neurogenetics, 2013, v. 14, n. 1, p. 1, doi. 10.1007/s10048-012-0348-3

By:

Holsinger, R.;
Goense, Nelleke;
Bohorquez, John;
Strappe, Padraig

Publication type:

Article

Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2.

Published in:

Neurogenetics, 2013, v. 14, n. 1, p. 35, doi. 10.1007/s10048-012-0346-5

By:

Choi, B.-O.;
Park, M.-H.;
Chung, K.;
Woo, H.-M.;
Koo, H.;
Chung, H.-K.;
Choi, K.-G.;
Park, K.;
Lee, H.;
Hyun, Y.;
Koo, S.

Publication type:

Article

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.

Published in:

2013

By:

Lal, Dennis;
Becker, Kerstin;
Motameny, Susanne;
Altmüller, Janine;
Thiele, Holger;
Nürnberg, Peter;
Ahting, Uwe;
Rolinski, Boris;
Neubauer, Bernd;
Hahn, Andreas

Publication type:

Letter

The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.

Published in:

Neurogenetics, 2013, v. 14, n. 1, p. 53, doi. 10.1007/s10048-012-0347-4

By:

Arning, Larissa;
Epplen, Jörg;
Rahikkala, Elisa;
Hendrich, Corinna;
Ludolph, Albert;
Sperfeld, Anne-Dorte

Publication type:

Article

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.

Published in:

Neurogenetics, 2013, v. 14, n. 1, p. 23, doi. 10.1007/s10048-013-0353-1

By:

Harssel, J.;
Weckhuysen, S.;
Kempen, M.;
Hardies, K.;
Verbeek, N.;
Kovel, C.;
Gunning, W.;
Daalen, E.;
Jonge, M.;
Jansen, A.;
Vermeulen, R.;
Arts, W.;
Verhelst, H.;
Fogarasi, A.;
Rijk-van Andel, J.;
Kelemen, A.;
Lindhout, D.;
Jonghe, P.;
Koeleman, B.;
Suls, A.

Publication type:

Article

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.

Published in:

Neurogenetics, 2013, v. 14, n. 1, p. 43, doi. 10.1007/s10048-012-0351-8

By:

Poulton, Cathryn;
Oegema, Renske;
Heijsman, Daphne;
Hoogeboom, Jeannette;
Schot, Rachel;
Stroink, Hans;
Willemsen, Michèl;
Verheijen, Frans;
Spek, Peter;
Kremer, Andreas;
Mancini, Grazia

Publication type:

Article

Refining the phenotype associated with MEF2C point mutations.

Published in:

Neurogenetics, 2013, v. 14, n. 1, p. 71, doi. 10.1007/s10048-012-0344-7

By:

Bienvenu, Thierry;
Diebold, Bertrand;
Chelly, Jamel;
Isidor, Bertrand

Publication type:

Article

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

Published in:

Neurogenetics, 2013, v. 14, n. 1, p. 11, doi. 10.1007/s10048-012-0349-2

By:

Hsu, Sandy;
Sears, Renee;
Lemos, Roberta;
Quintáns, Beatriz;
Huang, Alden;
Spiteri, Elizabeth;
Nevarez, Lisette;
Mamah, Catherine;
Zatz, Mayana;
Pierce, Kerrie;
Fullerton, Janice;
Adair, John;
Berner, Jon;
Bower, Matthew;
Brodaty, Henry;
Carmona, Olga;
Dobricić, Valerija;
Fogel, Brent;
García-Estevez, Daniel;
Goldman, Jill

Publication type:

Article

Comprehensive cytogenomic profile of the in vitro neuronal model SH-SY5Y.

Published in:

Neurogenetics, 2013, v. 14, n. 1, p. 63, doi. 10.1007/s10048-012-0350-9

By:

Yusuf, Mohammed;
Leung, Kay;
Morris, Keith;
Volpi, Emanuela

Publication type:

Article