Works matching IS 13646745 AND DT 2012 AND VI 13 AND IP 3

Results: 12

A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 275, doi. 10.1007/s10048-012-0327-8

By:

Park, Su-Yeon;
Kim, So;
Hong, Yoon-Ho;
Cho, Sung;
Seong, Moon-Woo;
Park, Sung

Publication type:

Article

Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 189, doi. 10.1007/s10048-012-0326-9

By:

Guven, Ayse;
Gunduz, Aysegul;
Bozoglu, Tarik;
Yalcinkaya, Cengiz;
Tolun, Aslıhan

Publication type:

Article

TRPV4 mutations in children with congenital distal spinal muscular atrophy.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 195, doi. 10.1007/s10048-012-0328-7

By:

Fiorillo, Chiara;
Moro, Francesca;
Brisca, Giacomo;
Astrea, Guja;
Nesti, Claudia;
Bálint, Zoltán;
Olschewski, Andrea;
Meschini, Maria;
Guelly, Christian;
Auer-Grumbach, Michaela;
Battini, Roberta;
Pedemonte, Marina;
Romano, Alessandro;
Menchise, Valeria;
Biancheri, Roberta;
Santorelli, Filippo;
Bruno, Claudio

Publication type:

Article

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 205, doi. 10.1007/s10048-012-0331-z

By:

Mancini, Cecilia;
Vaula, Giovanna;
Scalzitti, Laura;
Cavalieri, Simona;
Bertini, Enrico;
Aiello, Chiara;
Lucchini, Cinzia;
Gatti, Richard;
Brussino, Alessandro;
Brusco, Alfredo

Publication type:

Article

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 215, doi. 10.1007/s10048-012-0329-6

By:

Dufke, Claudia;
Schlipf, Nina;
Schüle, Rebecca;
Bonin, Michael;
Auer-Grumbach, Michaela;
Stevanin, Giovanni;
Depienne, Christel;
Kassubek, Jan;
Klebe, Stephan;
Klimpe, Sven;
Klopstock, Thomas;
Otto, Susanne;
Poths, Sven;
Seibel, Andrea;
Stolze, Henning;
Gal, Andreas;
Schöls, Ludger;
Bauer, Peter

Publication type:

Article

Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 229, doi. 10.1007/s10048-012-0332-y

By:

Kehrer-Sawatzki, Hildegard;
Vogt, Julia;
Mußotter, Tanja;
Kluwe, Lan;
Cooper, David;
Mautner, Victor-Felix

Publication type:

Article

New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 245, doi. 10.1007/s10048-012-0322-0

By:

O'Callaghan, María;
Emperador, Sonia;
López-Gallardo, Ester;
Jou, Cristina;
Buján, Nuria;
Montero, Raquel;
Garcia-Cazorla, Àngels;
Gonzaga, Diana;
Ferrer, Isidre;
Briones, Paz;
Ruiz-Pesini, Eduardo;
Pineda, Mercè;
Artuch, Rafael;
Montoya, Julio

Publication type:

Article

A novel binding protein of single-minded 2: the mitotic arrest-deficient protein MAD2B.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 251, doi. 10.1007/s10048-012-0333-x

By:

Meng, Xianfang;
Tian, Xiujuan;
Wang, Xiaolan;
Gao, Pan;
Zhang, Chun

Publication type:

Article

A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 261, doi. 10.1007/s10048-012-0325-x

By:

Cox, Hannah;
Lea, Rod;
Bellis, Claire;
Carless, Melanie;
Dyer, Thomas;
Curran, Joanne;
Charlesworth, Jac;
Macgregor, Stuart;
Nyholt, Dale;
Chasman, Daniel;
Ridker, Paul;
Schürks, Markus;
Blangero, John;
Griffiths, Lyn

Publication type:

Article

Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 281, doi. 10.1007/s10048-012-0334-9

By:

Schulte, Eva;
Mollenhauer, Brit;
Zimprich, Alexander;
Bereznai, Benjamin;
Lichtner, Peter;
Haubenberger, Dietrich;
Pirker, Walter;
Brücke, Thomas;
Molnar, Maria;
Peters, Annette;
Gieger, Christian;
Trenkwalder, Claudia;
Winkelmann, Juliane

Publication type:

Article

Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 237, doi. 10.1007/s10048-012-0330-0

By:

Taira, Makiko;
Ishiura, Hiroyuki;
Mitsui, Jun;
Takahashi, Yuji;
Hayashi, Toshihiro;
Shimizu, Jun;
Matsukawa, Takashi;
Saito, Naoko;
Okada, Kazumasa;
Tsuji, Sadatoshi;
Sawamura, Hiromasa;
Amano, Shiro;
Goto, Jun;
Tsuji, Shoji

Publication type:

Article

RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 267, doi. 10.1007/s10048-012-0335-8

By:

Melean, German;
Velasco, Ana;
Hernández-Imaz, Elisabete;
Rodríguez-Álvarez, Francisco;
Martín, Yolanda;
Valero, Ana;
Hernández-Chico, Concepción

Publication type:

Article