Works matching IS 13646745 AND DT 2010 AND VI 11 AND IP 1

Results: 16

Transgenic overexpression of the alpha-synuclein interacting protein synphilin-1 leads to behavioral and neuropathological alterations in mice.

Published in:

Neurogenetics, 2010, v. 11, n. 1, p. 107, doi. 10.1007/s10048-009-0212-2

By:

Nuber, Silke;
Franck, Thomas;
Wolburg, Hartwig;
Schumann, Ulrike;
Casadei, Nicolas;
Fischer, Kristina;
Calaminus, Carsten;
Pichler, Bernd J.;
Chanarat, Sittinan;
Teismann, Peter;
Schulz, Jörg B.;
Luft, Andreas R.;
Tomiuk, Jürgen;
Wilbertz, Johannes;
Bornemann, Antje;
Krüger, Rejko;
Riess, Olaf

Publication type:

Article

Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes.

Published in:

Neurogenetics, 2010, v. 11, n. 1, p. 135, doi. 10.1007/s10048-009-0211-3

By:

Gouvea, Silmara P.;
S. Borghetti, Vinícius H.;
Bueno, Keity C.;
Genari, Adriana B.;
Lourenço, Charles M.;
Sobreira, Claudia;
Barreira, Amilton A.;
Marques, Wilson Jr.

Publication type:

Article

Sequence variation in SORL1 and dementia risk in Swedes.

Published in:

Neurogenetics, 2010, v. 11, n. 1, p. 139, doi. 10.1007/s10048-009-0210-4

By:

Reynolds, Chandra A.;
Hong, Mun-Gwan;
Eriksson, Ulrika K.;
Blennow, Kaj;
Johansson, Boo;
Malmberg, Bo;
Berg, Stig;
Gatz, Margaret;
Pedersen, Nancy L.;
Bennet, Anna M.;
Prince, Jonathan A.

Publication type:

Article

Prader–Willi syndrome, Snord115, and Htr2c editing.

Published in:

2010

By:

Glatt-Deeley, Heather;
Bancescu, Daria L.;
Lalande, Marc

Publication type:

Letter

Identification of CACNA1A large deletions in four patients with episodic ataxia.

Published in:

Neurogenetics, 2010, v. 11, n. 1, p. 101, doi. 10.1007/s10048-009-0208-y

By:

Riant, Florence;
Lescoat, Christelle;
Vahedi, Katayoun;
Kaphan, Elsa;
Toutain, Annick;
Soisson, Thierry;
Wiener-Vacher, Sylvette R.;
Tournier-Lasserve, Elisabeth

Publication type:

Article

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease.

Published in:

Neurogenetics, 2010, v. 11, n. 1, p. 127, doi. 10.1007/s10048-009-0207-z

By:

Guillet, Virginie;
Gueguen, Naïg;
Verny, Christophe;
Ferre, Marc;
Homedan, Chadi;
Loiseau, Dominique;
Procaccio, Vincent;
Amati-Bonneau, Patrizia;
Bonneau, Dominique;
Reynier, Pascal;
Chevrollier, Arnaud

Publication type:

Article

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.

Published in:

Neurogenetics, 2010, v. 11, n. 1, p. 91, doi. 10.1007/s10048-009-0206-0

By:

Airoldi, Giovanni;
Guidarelli, Andrea;
Cantoni, Orazio;
Panzeri, Chris;
Vantaggiato, Chiara;
Bonato, Sara;
Grazia D’Angelo, Maria;
Falcone, Sestina;
De Palma, Clara;
Tonelli, Alessandra;
Crimella, Claudia;
Bondioni, Sara;
Bresolin, Nereo;
Clementi, Emilio;
Bassi, Maria Teresa

Publication type:

Article

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.

Published in:

Neurogenetics, 2010, v. 11, n. 1, p. 81, doi. 10.1007/s10048-009-0205-1

By:

Poot, Martin;
Beyer, Vera;
Schwaab, Ira;
Damatova, Natalja;
van’t Slot, Ruben;
Prothero, Jo;
Holder, Sue E.;
Haaf, Thomas

Publication type:

Article

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.

Published in:

Neurogenetics, 2010, v. 11, n. 1, p. 73, doi. 10.1007/s10048-009-0204-2

By:

Bacci, Costanza;
Sestini, Roberta;
Provenzano, Aldesia;
Paganini, Irene;
Mancini, Irene;
Porfirio, Berardino;
Vivarelli, Rossella;
Genuardi, Maurizio;
Papi, Laura

Publication type:

Article

A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice.

Published in:

Neurogenetics, 2010, v. 11, n. 1, p. 53, doi. 10.1007/s10048-009-0203-3

By:

Tapanes-Castillo, Alexis;
Weaver, Eli J.;
Smith, Robin P.;
Kamei, Yoshimasa;
Caspary, Tamara;
Hamilton-Nelson, Kara L.;
Slifer, Susan H.;
Martin, Eden R.;
Bixby, John L.;
Lemmon, Vance P.

Publication type:

Article

A novel variation in the Twinkle linker region causing late-onset dementia.

Published in:

Neurogenetics, 2010, v. 11, n. 1, p. 21, doi. 10.1007/s10048-009-0202-4

By:

Echaniz-Laguna, Andoni;
Chanson, Jean-Baptiste;
Wilhelm, Jean-Marie;
Sellal, François;
Mayençon, Martine;
Mohr, Michel;
Tranchant, Christine;
de Camaret, Bénédicte Mousson

Publication type:

Article

Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy.

Published in:

Neurogenetics, 2010, v. 11, n. 1, p. 27, doi. 10.1007/s10048-009-0200-6

By:

Ymlahi-Ouazzani, Qods;
J. Bronchain, Odile;
Paillard, Elodie;
Ballagny, Chantal;
Chesneau, Albert;
Jadaud, Aurélie;
Mazabraud, André;
Pollet, Nicolas

Publication type:

Article

LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease.

Published in:

Neurogenetics, 2010, v. 11, n. 1, p. 121, doi. 10.1007/s10048-009-0198-9

By:

Gan-Or, Z.;
Bar-Shira, A.;
Mirelman, A.;
Gurevich, T.;
Kedmi, M.;
Giladi, N.;
Orr-Urtreger, A.

Publication type:

Article

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

Published in:

Neurogenetics, 2010, v. 11, n. 1, p. 1, doi. 10.1007/s10048-009-0196-y

By:

Anheim, M.;
Fleury, M.;
Monga, B.;
Laugel, V.;
Chaigne, D.;
Rodier, G.;
Ginglinger, E.;
Boulay, C.;
Courtois, S.;
Drouot, N.;
Fritsch, M.;
Delaunoy, J. P.;
Stoppa-Lyonnet, D.;
Tranchant, C.;
Koenig, M.

Publication type:

Article

COL25A1 triggers and promotes Alzheimer’s disease-like pathology in vivo.

Published in:

Neurogenetics, 2010, v. 11, n. 1, p. 41, doi. 10.1007/s10048-009-0201-5

By:

Ying Tong;
Ying Xu;
Scearce-Levie, Kimberly;
Ptáček, Louis J.;
Ying-Hui Fu

Publication type:

Article

U1 snRNA mis-binding: a new cause of CMT1B.

Published in:

Neurogenetics, 2010, v. 11, n. 1, p. 13, doi. 10.1007/s10048-009-0199-8

By:

Crehalet, Hervé;
Latour, Philippe;
Bonnet, Véronique;
Attarian, Shahram;
Labauge, Pierre;
Bonello, Nathalie;
Bernard, Rafaelle;
Millat, Gilles;
Rousson, Robert;
Bozon, Dominique

Publication type:

Article