Issue 4/2010
Content (13 Articles)
Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons
Cynthia Soderblom, Julia Stadler, Henri Jupille, Craig Blackstone, Oleg Shupliakov, Michael C. Hanna
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish
Laura Southgate, Dimitra Dafou, Jacqueline Hoyle, Nan Li, Esther Kinning, Peter Critchley, Andrea H. Németh, Kevin Talbot, Parayil S. Bindu, Sanjib Sinha, Arun B. Taly, Seetharam Raghavendra, Ferenc Müller, Eamonn R. Maher, Richard C. Trembath
Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden
Laura Thomas, Lan Kluwe, Nadia Chuzhanova, Victor Mautner, Meena Upadhyaya
LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease
Carles Vilariño-Güell, Christian Wider, Owen A. Ross, Barbara Jasinska-Myga, Jennifer Kachergus, Stephanie A. Cobb, Alexandra I. Soto-Ortolaza, Bahareh Behrouz, Michael G. Heckman, Nancy N. Diehl, Claudia M. Testa, Zbigniew K. Wszolek, Ryan J. Uitti, Joseph Jankovic, Elan D. Louis, Lorraine N. Clark, Alex Rajput, Matthew J. Farrer
Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan
Haruya Sakai, Kunihiro Yoshida, Yusaku Shimizu, Hiroshi Morita, Shu-ichi Ikeda, Naomichi Matsumoto
Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred
Guido J. Breedveld, Giovanni Fabbrini, Ben A. Oostra, Alfredo Berardelli, Vincenzo Bonifati
Myotonic dystrophy type I combined with X-linked dominant Charcot–Marie–Tooth neuropathy
Hyun Sook Kim, Ki Wha Chung, Sung Hee Kang, Sung Kyung Choi, Sun Young Cho, Heasoo Koo, Sang-Beom Kim, Byung-Ok Choi
Age at onset in Huntington’s disease: replication study on the associations of ADORA2A, HAP1 and OGG1
Elahe Taherzadeh-Fard, Carsten Saft, Stefan Wieczorek, Jörg T. Epplen, Larissa Arning
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum
Amir Boukhris, Imed Feki, Nizar Elleuch, Mohamed Imed Miladi, Anne Boland-Augé, Jérémy Truchetto, Emeline Mundwiller, Nadia Jezequel, Diana Zelenika, Chokri Mhiri, Alexis Brice, Giovanni Stevanin
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy
Steven E. Boyden, Mustafa A. Salih, Anna R. Duncan, Alexander J. White, Elicia A. Estrella, Stephanie L. Burgess, Mohammed Z. Seidahmed, Abdullah S. Al-Jarallah, Hisham M. S. Alkhalidi, Waleed M. Al-Maneea, Richard R. Bennett, Salem H. Alshemmari, Louis M. Kunkel, Peter B. Kang
Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31
Geneviève Bernard, Isabelle Thiffault, Martine Tetreault, Maria Lisa Putorti, Isabelle Bouchard, Michel Sylvain, Serge Melançon, Rachel Laframboise, Pierre Langevin, Jean-Pierre Bouchard, Michel Vanasse, Adeline Vanderver, Guillaume Sébire, Bernard Brais
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease
Claudia Gonzaga-Jauregui, Feng Zhang, Charles F. Towne, Sat Dev Batish, James R. Lupski