Works matching IS 13646745 AND DT 2010 AND VI 11 AND IP 2

Results: 16

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.

Published in:

Neurogenetics, 2010, v. 11, n. 2, p. 241, doi. 10.1007/s10048-009-0220-2

By:

Bahi-Buisson, Nadia;
Nectoux, Juliette;
Girard, Benoit;
Esch, Hilde;
Ravel, Thomy;
Boddaert, Nathalie;
Plouin, Perrine;
Rio, Marlene;
Fichou, Yann;
Chelly, Jamel;
Bienvenu, Thierry

Publication type:

Article

Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene.

Published in:

Neurogenetics, 2010, v. 11, n. 2, p. 163, doi. 10.1007/s10048-009-0223-z

By:

Dekomien, Gabriele;
Vollrath, Conni;
Petrasch-Parwez, Elisabeth;
Boevé, Michael;
Akkad, Denis;
Gerding, Wanda;
Epplen, Jörg

Publication type:

Article

A Copine family member, Cpne8, is a candidate quantitative trait gene for prion disease incubation time in mouse.

Published in:

Neurogenetics, 2010, v. 11, n. 2, p. 185, doi. 10.1007/s10048-009-0219-8

By:

Lloyd, Sarah;
Maytham, Emma;
Grizenkova, Julia;
Hummerich, Holger;
Collinge, John

Publication type:

Article

Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease.

Published in:

Neurogenetics, 2010, v. 11, n. 2, p. 203, doi. 10.1007/s10048-009-0215-z

By:

Soehn, Anne;
Franck, Thomas;
Biskup, Saskia;
Giaime, Emilie;
Melle, Christian;
Rott, Ruth;
Cebo, Daniel;
Kalbacher, Hubert;
Ott, Erwin;
Pahnke, Jens;
Meitinger, Thomas;
Krüger, Rejko;
Gasser, Thomas;
Berg, Daniela;
Eggeling, Ferdinand;
Engelender, Simone;
Costa, Cristine;
Riess, Olaf

Publication type:

Article

Intratumoral patterns of clonal evolution in gliomas.

Published in:

Neurogenetics, 2010, v. 11, n. 2, p. 227, doi. 10.1007/s10048-009-0217-x

By:

Vital, Ana;
Tabernero, Maria;
Crespo, Inês;
Rebelo, Olinda;
Tão, Hermínio;
Gomes, Fernando;
Lopes, Maria;
Orfao, Alberto

Publication type:

Article

Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia.

Published in:

Neurogenetics, 2010, v. 11, n. 2, p. 261, doi. 10.1007/s10048-009-0233-x

By:

Diehl, Beate;
Lee, Michael;
Reid, Janet;
Nielsen, Craig;
Natowicz, Marvin

Publication type:

Article

X-linked CMT: genes and gene loci in an Australian cohort.

Published in:

2010

By:

Brewer, Megan;
Chaudhry, Rabia;
McDowall, Keta;
Chu, Shannon;
Kowalski, Bartosz;
Polly, Patsie;
Nicholson, Garth;
Kennerson, Marina

Publication type:

Letter

Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.

Published in:

Neurogenetics, 2010, v. 11, n. 2, p. 175, doi. 10.1007/s10048-009-0214-0

By:

Thomsen, Bo;
Nissen, Peter;
Agerholm, Jørgen;
Bendixen, Christian

Publication type:

Article

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.

Published in:

Neurogenetics, 2010, v. 11, n. 2, p. 251, doi. 10.1007/s10048-009-0224-y

By:

Zanni, Ginevra;
Esch, Hilde;
Bensalem, Anissa;
Saillour, Yoann;
Poirier, Karine;
Castelnau, Laetitia;
Ropers, Hans;
Brouwer, Arjan;
Laumonnier, Fréderic;
Fryns, Jean-Pierre;
Chelly, Jamel

Publication type:

Article

Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.

Published in:

2010

By:

Keren, Boris;
Jacquette, Aurélia;
Depienne, Christel;
Leite, Patricia;
Durr, Alexandra;
Carpentier, Wassila;
Benyahia, Baya;
Ponsot, Gerard;
Soubrier, Florent;
Brice, Alexis;
Héron, Delphine

Publication type:

Letter

Suggestive evidence on chromosomes 2 and 19 for HTR1A-independent linkage of genes to major depression.

Published in:

2010

By:

Abkevich, Victor;
Neff, Chris;
Potter, Jennifer;
Riley, Robin;
Shattuck, Donna;
Katz, David

Publication type:

Letter

Isolated eyelid closure myotonia in two families with sodium channel myotonia.

Published in:

Neurogenetics, 2010, v. 11, n. 2, p. 257, doi. 10.1007/s10048-009-0225-x

By:

Stunnenberg, B.;
Ginjaar, H.;
Trip, J.;
Faber, C.;
Engelen, B.;
Drost, G.

Publication type:

Article

Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC.

Published in:

Neurogenetics, 2010, v. 11, n. 2, p. 145, doi. 10.1007/s10048-009-0226-9

By:

DuBose, Amanda;
Johnstone, Karen;
Smith, Emily;
Hallett, Ryan;
Resnick, James

Publication type:

Article

Increased transcript diversity: novel splicing variants of Machado–Joseph Disease gene ( ATXN3).

Published in:

Neurogenetics, 2010, v. 11, n. 2, p. 193, doi. 10.1007/s10048-009-0216-y

By:

Bettencourt, Conceição;
Santos, Cristina;
Montiel, Rafael;
Costa, Maria do Carmo;
Cruz-Morales, Pablo;
Santos, Liliana;
Simões, Nelson;
Kay, Teresa;
Vasconcelos, João;
Maciel, Patrícia;
Lima, Manuela

Publication type:

Article

Broad clinical phenotypes associated with TAR-DNA binding protein ( TARDBP) mutations in amyotrophic lateral sclerosis.

Published in:

Neurogenetics, 2010, v. 11, n. 2, p. 217, doi. 10.1007/s10048-009-0218-9

By:

Kirby, Janine;
Goodall, Emily;
Smith, William;
Highley, J.;
Masanzu, Rudo;
Hartley, Judith;
Hibberd, Rachel;
Hollinger, Hannah;
Wharton, Stephen;
Morrison, Karen;
Ince, Paul;
McDermott, Christopher;
Shaw, Pamela

Publication type:

Article

The C15orf2 gene in the Prader–Willi syndrome region is subject to genomic imprinting and positive selection.

Published in:

Neurogenetics, 2010, v. 11, n. 2, p. 153, doi. 10.1007/s10048-009-0231-z

By:

Wawrzik, Michaela;
Unmehopa, Unga;
Swaab, Dick;
Nes, Johannes;
Buiting, Karin;
Horsthemke, Bernhard

Publication type:

Article