Works matching IS 13646745 AND DT 2013 AND VI 14 AND IP 3/4

Results: 15

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.

Published in:

Neurogenetics, 2013, v. 14, n. 3/4, p. 243, doi. 10.1007/s10048-013-0367-8

By:

Shaheen, Ranad;
Faqeih, Eissa;
Ansari, Shinu;
Alkuraya, Fowzan

Publication type:

Article

Acknowledgement to Referees 2012/2013.

Published in:: Neurogenetics, 2013, v. 14, n. 3/4, p. 259, doi. 10.1007/s10048-013-0382-9
Publication type:: Article

Neuroligin modulates the locomotory dopaminergic and serotonergic neuronal pathways of C. elegans.

Published in:

Neurogenetics, 2013, v. 14, n. 3/4, p. 233, doi. 10.1007/s10048-013-0377-6

By:

Izquierdo, Patricia;
Calahorro, Fernando;
Ruiz-Rubio, Manuel

Publication type:

Article

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Published in:

Neurogenetics, 2013, v. 14, n. 3/4, p. 247, doi. 10.1007/s10048-013-0371-z

By:

Zanni, Ginevra;
Scotton, Chiara;
Passarelli, Chiara;
Fang, Mingyan;
Barresi, Sabina;
Dallapiccola, Bruno;
Wu, Bin;
Gualandi, Francesca;
Ferlini, Alessandra;
Bertini, E.;
Wei, Wang

Publication type:

Article

Genetic modifiers in Huntington's disease: fiction or fact?

Published in:

2013

By:

Arning, Larissa;
Epplen, Jörg

Publication type:

Editorial

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.

Published in:

Neurogenetics, 2013, v. 14, n. 3/4, p. 173, doi. 10.1007/s10048-013-0364-y

By:

Ramos, Eliana;
Latourelle, Jeanne;
Gillis, Tammy;
Mysore, Jayalakshmi;
Squitieri, Ferdinando;
Pardo, Alba;
Donato, Stefano;
Gellera, Cinzia;
Hayden, Michael;
Morrison, Patrick;
Nance, Martha;
Ross, Christopher;
Margolis, Russell;
Gomez-Tortosa, Estrella;
Ayuso, Carmen;
Suchowersky, Oksana;
Trent, Ronald;
McCusker, Elizabeth;
Novelletto, Andrea;
Frontali, Marina

Publication type:

Article

The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.

Published in:

2013

By:

Duarri, Anna;
Nibbeling, Esther;
Fokkens, Michiel;
Meijer, Michel;
Boddeke, Erik;
Lagrange, Emmeline;
Stevanin, Giovanni;
Brice, Alexis;
Durr, Alexandra;
Verbeek, Dineke

Publication type:

Letter

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.

Published in:

Neurogenetics, 2013, v. 14, n. 3/4, p. 215, doi. 10.1007/s10048-013-0373-x

By:

Valence, Stéphanie;
Poirier, Karine;
Lebrun, Nicolas;
Saillour, Yoann;
Sonigo, Pascale;
Bessières, Bettina;
Attié-Bitach, Tania;
Benachi, Alexandra;
Masson, Cécile;
Encha-Razavi, Ferechté;
Chelly, Jamel;
Bahi-Buisson, Nadia

Publication type:

Article

Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.

Published in:

Neurogenetics, 2013, v. 14, n. 3/4, p. 197, doi. 10.1007/s10048-013-0372-y

By:

Bertelsen, Birgitte;
Debes, Nanette;
Hjermind, Lena;
Skov, Liselotte;
Brøndum-Nielsen, Karen;
Tümer, Zeynep

Publication type:

Article

Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.

Published in:

Neurogenetics, 2013, v. 14, n. 3/4, p. 205, doi. 10.1007/s10048-013-0374-9

By:

Geis, Tobias;
Marquard, Klaus;
Rödl, Tanja;
Reihle, Christof;
Schirmer, Sophie;
Kalle, Thekla;
Bornemann, Antje;
Hehr, Ute;
Blankenburg, Markus

Publication type:

Article

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

Published in:

Neurogenetics, 2013, v. 14, n. 3/4, p. 225, doi. 10.1007/s10048-013-0375-8

By:

Ohba, Chihiro;
Osaka, Hitoshi;
Iai, Mizue;
Yamashita, Sumimasa;
Suzuki, Yume;
Aida, Noriko;
Shimozawa, Nobuyuki;
Takamura, Ayumi;
Doi, Hiroshi;
Tomita-Katsumoto, Atsuko;
Nishiyama, Kiyomi;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Miyake, Noriko;
Eto, Yoshikatsu;
Tanaka, Fumiaki;
Matsumoto, Naomichi;
Saitsu, Hirotomo

Publication type:

Article

Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman.

Published in:

Neurogenetics, 2013, v. 14, n. 3/4, p. 189, doi. 10.1007/s10048-013-0368-7

By:

Borgulová, I.;
Mazanec, R.;
Sakmaryová, I.;
Havlová, M.;
Šafka Brožková, D.;
Seeman, P.

Publication type:

Article

Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.

Published in:

Neurogenetics, 2013, v. 14, n. 3/4, p. 181, doi. 10.1007/s10048-013-0366-9

By:

Yoon, G.;
Baskin, B.;
Tarnopolsky, M.;
Boycott, K.;
Geraghty, M.;
Sell, E.;
Goobie, S.;
Meschino, W.;
Banwell, B.;
Ray, P.

Publication type:

Article

Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutation.

Published in:

2013

By:

Vito, L.;
Biase, D.;
Pession, A.;
Visani, M.;
Liguori, R.;
Zambito Marsala, S.;
Leta, V.;
Carolis, P.;
Donadio, V.

Publication type:

Letter

Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.

Published in:

Neurogenetics, 2013, v. 14, n. 3/4, p. 251, doi. 10.1007/s10048-013-0376-7

By:

Weber, Axel;
Köhler, Angelika;
Hahn, Andreas;
Neubauer, Bernd;
Müller, Ulrich

Publication type:

Article