Works matching IS 13646745 AND DT 2008 AND VI 9 AND IP 3

Results: 10

Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region.

Published in:

Neurogenetics, 2008, v. 9, n. 3, p. 191, doi. 10.1007/s10048-008-0126-4

By:

Brewer, Megan;
Changi, Febriani;
Antonellis, Anthony;
Fischbeck, Kurt;
Polly, Patsie;
Nicholson, Garth;
Kennerson, Marina

Publication type:

Article

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series.

Published in:

Neurogenetics, 2008, v. 9, n. 3, p. 197, doi. 10.1007/s10048-008-0127-3

By:

Borroni, Barbara;
Archetti, Silvana;
Alberici, Antonella;
Agosti, Chiara;
Gennarelli, Massimo;
Bigni, Barbara;
Bonvicini, Cristian;
Ferrari, Maria;
Bellelli, Giuseppe;
Galimberti, Daniela;
Scarpini, Elio;
Lorenzo, Diego;
Caimi, Luigi;
Caltagirone, Carlo;
Luca, Monica;
Padovani, Alessandro

Publication type:

Article

Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25.

Published in:

2008

By:

Macedo-Souza, Lúcia;
Kok, Fernando;
Santos, Silvana;
Licinio, Luciana;
Lezirovitz, Karina;
Nascimento, Rafaella;
Bueno, Clarissa;
Martyn, Marcília;
Leão, Emília;
Zatz, Mayana

Publication type:

Letter

Differential expression of alpha-synuclein, parkin, and synphilin-1 isoforms in Lewy body disease.

Published in:

Neurogenetics, 2008, v. 9, n. 3, p. 163, doi. 10.1007/s10048-008-0124-6

By:

Beyer, Katrin;
Domingo-Sàbat, Montserrat;
Humbert, Jordi;
Carrato, Cristina;
Ferrer, Isidro;
Ariza, Aurelio

Publication type:

Article

Dysregulation of large-conductance Ca<sup>2+</sup>-activated K<sup>+</sup> channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation.

Published in:

Neurogenetics, 2008, v. 9, n. 3, p. 219, doi. 10.1007/s10048-008-0128-2

By:

Higgins, Joseph;
Hao, Jin;
Kosofsky, Barry;
Rajadhyaksha, Anjali

Publication type:

Article

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

Published in:

Neurogenetics, 2008, v. 9, n. 3, p. 207, doi. 10.1007/s10048-008-0131-7

By:

Vermeer, Sascha;
Meijer, Rowdy;
Pijl, Benjamin;
Timmermans, Janneke;
Cruysberg, Johannes;
Bos, Maaike;
Schelhaas, Helenius;
Warrenburg, Bart.;
Knoers, Nine;
Scheffer, Hans;
Kremer, Berry

Publication type:

Article

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.

Published in:

Neurogenetics, 2008, v. 9, n. 3, p. 173, doi. 10.1007/s10048-008-0129-1

By:

Blázquez, L.;
Azpitarte, M.;
Sáenz, A.;
Goicoechea, M.;
Otaegui, D.;
Ferrer, X.;
Illa, I.;
Gutierrez-Rivas, E.;
Vilchez, J.;
López de Munain, A.

Publication type:

Article

Heterogeneous dysregulation of microRNAs across the autism spectrum.

Published in:

Neurogenetics, 2008, v. 9, n. 3, p. 153, doi. 10.1007/s10048-008-0133-5

By:

Abu-Elneel, Kawther;
Liu, Tsunglin;
Gazzaniga, Francesca;
Nishimura, Yuhei;
Wall, Dennis;
Geschwind, Daniel;
Lao, Kaiqin;
Kosik, Kenneth

Publication type:

Article

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

Published in:

Neurogenetics, 2008, v. 9, n. 3, p. 183, doi. 10.1007/s10048-008-0125-5

By:

Betsalel, Ofir;
Kamp, Jiddeke;
Martínez-Muñoz, Cristina;
Rosenberg, Efraim;
Brouwer, Arjan;
Pouwels, Petra;
Knaap, Marjo;
Mancini, Grazia;
Jakobs, Cornelis;
Hamel, Ben;
Salomons, Gajja

Publication type:

Article

A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes.

Published in:

Neurogenetics, 2008, v. 9, n. 3, p. 215, doi. 10.1007/s10048-008-0132-6

By:

Fogel, Brent;
Young, Pari;
Thompson, Arthur;
Perlman, Susan

Publication type:

Article