Works matching IS 13646745 AND DT 2011 AND VI 12 AND IP 3

Results: 12

Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.

Published in:

Neurogenetics, 2011, v. 12, n. 3, p. 233, doi. 10.1007/s10048-011-0278-5

By:

Pizzuti, Antonio;
Bottillo, Irene;
Inzana, Francesca;
Lanari, Valentina;
Buttarelli, Francesca;
Torrente, Isabella;
Giallonardo, Anna;
Luca, Alessandro;
Dallapiccola, Bruno

Publication type:

Article

Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC).

Published in:

Neurogenetics, 2011, v. 12, n. 3, p. 175, doi. 10.1007/s10048-011-0280-y

By:

Müller, Ulrich

Publication type:

Article

Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.

Published in:

Neurogenetics, 2011, v. 12, n. 3, p. 183, doi. 10.1007/s10048-011-0279-4

By:

Arrabal, Luisa;
Teresa, Libertad;
Sánchez-Alcudia, Rocío;
Castro, Margarita;
Medrano, Celia;
Gutiérrez-Solana, Luis;
Roldán, Susana;
Ormazábal, Aida;
Pérez-Cerdá, Celia;
Merinero, Begoña;
Pérez, Belén;
Artuch, Rafael;
Ugarte, Magdalena;
Desviat, Lourdes

Publication type:

Article

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.

Published in:

Neurogenetics, 2011, v. 12, n. 3, p. 193, doi. 10.1007/s10048-011-0281-x

By:

Castellotti, Barbara;
Mariotti, Caterina;
Rimoldi, Marco;
Fancellu, Roberto;
Plumari, Massimo;
Caimi, Sara;
Uziel, Graziella;
Nardocci, Nardo;
Moroni, Isabella;
Zorzi, Giovanna;
Pareyson, Davide;
Bella, Daniela;
Donato, Stefano;
Taroni, Franco;
Gellera, Cinzia

Publication type:

Article

Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.

Published in:

2011

By:

Matsukawa, Takashi;
Wang, Xuemin;
Liu, Rui;
Wortham, Noel;
Onuki, Yuko;
Kubota, Akatsuki;
Hida, Ayumi;
Kowa, Hisatomo;
Fukuda, Yoko;
Ishiura, Hiroyuki;
Mitsui, Jun;
Takahashi, Yuji;
Aoki, Shigeki;
Takizawa, Shunya;
Shimizu, Jun;
Goto, Jun;
Proud, Christopher;
Tsuji, Shoji

Publication type:

Letter

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.

Published in:

Neurogenetics, 2011, v. 12, n. 3, p. 241, doi. 10.1007/s10048-011-0283-8

By:

Zanni, Ginevra;
Barresi, Sabina;
Travaglini, Lorena;
Bernardini, Laura;
Rizza, Teresa;
Digilio, Maria;
Mercuri, Eugenio;
Cianfarani, Stefano;
Valeriani, Massimiliano;
Ferraris, Alessandro;
Sacco, Letizia;
Novelli, Antonio;
Valente, Enza;
Dallapiccola, Bruno;
Bertini, Enrico

Publication type:

Article

Call for participation in the neurogenetics consortium within the Human Variome Project.

Published in:

Neurogenetics, 2011, v. 12, n. 3, p. 169, doi. 10.1007/s10048-011-0287-4

By:

Haworth, Andrea;
Bertram, Lars;
Carrera, Paola;
Elson, Joanna;
Braastad, Corey;
Cox, Diane;
Cruts, Marc;
Dunnen, Johann;
Farrer, Matthew;
Fink, John;
Hamed, Sherifa;
Houlden, Henry;
Johnson, Dennis;
Nuytemans, Karen;
Palau, Francesc;
Rayan, Dipa;
Robinson, Peter;
Salas, Antonio;
Schüle, Birgitt;
Sweeney, Mary

Publication type:

Article

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel.

Published in:

Neurogenetics, 2011, v. 12, n. 3, p. 247, doi. 10.1007/s10048-011-0286-5

By:

Rehman, Shoaib ur;
Baig, Shahid;
Eiberg, Hans;
Rehman, Sijad ur;
Ahmad, Ilyas;
Malik, Naveed;
Tommerup, Niels;
Hansen, Lars

Publication type:

Article

A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy.

Published in:

Neurogenetics, 2011, v. 12, n. 3, p. 223, doi. 10.1007/s10048-011-0285-6

By:

Fyfe, John;
Al-Tamimi, Rabá;
Liu, Junlong;
Schäffer, Alejandro;
Agarwala, Richa;
Henthorn, Paula

Publication type:

Article

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.

Published in:

Neurogenetics, 2011, v. 12, n. 3, p. 203, doi. 10.1007/s10048-011-0288-3

By:

Quadri, Marialuisa;
Cossu, Giovanni;
Saddi, Valeria;
Simons, Erik;
Murgia, Daniela;
Melis, Maurizio;
Ticca, Anna;
Oostra, Ben;
Bonifati, Vincenzo

Publication type:

Article

Audiogenic seizure proneness requires the contribution of two susceptibility loci in mice.

Published in:

Neurogenetics, 2011, v. 12, n. 3, p. 253, doi. 10.1007/s10048-011-0289-2

By:

Jawahar, M.;
Sari, Carolina;
Wilson, Yvette;
Lawrence, Andrew;
Brodnicki, Thomas;
Murphy, Mark

Publication type:

Article

Differentially expressed genes in hypothalamus in relation to genomic regions under selection in two chicken lines resulting from divergent selection for high or low body weight.

Published in:

Neurogenetics, 2011, v. 12, n. 3, p. 211, doi. 10.1007/s10048-011-0290-9

By:

Ka, Sojeong;
Albert, Frank;
Denbow, D.;
Pääbo, Svante;
Siegel, Paul;
Andersson, Leif;
Hallböök, Finn

Publication type:

Article