Issue 2/2010
Content (16 Articles)
Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC
Amanda J. DuBose, Karen A. Johnstone, Emily Y. Smith, Ryan A. E. Hallett, James L. Resnick
The C15orf2 gene in the Prader–Willi syndrome region is subject to genomic imprinting and positive selection
Michaela Wawrzik, Unga Arifa Unmehopa, Dick Frans Swaab, Johannes van de Nes, Karin Buiting, Bernhard Horsthemke
Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
Gabriele Dekomien, Conni Vollrath, Elisabeth Petrasch-Parwez, Michael H. Boevé, Denis A. Akkad, Wanda M. Gerding, Jörg T. Epplen
Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene
Bo Thomsen, Peter H. Nissen, Jørgen S. Agerholm, Christian Bendixen
A Copine family member, Cpne8, is a candidate quantitative trait gene for prion disease incubation time in mouse
Sarah E. Lloyd, Emma G. Maytham, Julia Grizenkova, Holger Hummerich, John Collinge
Increased transcript diversity: novel splicing variants of Machado–Joseph Disease gene (ATXN3)
Conceição Bettencourt, Cristina Santos, Rafael Montiel, Maria do Carmo Costa, Pablo Cruz-Morales, Liliana Ribeiro Santos, Nelson Simões, Teresa Kay, João Vasconcelos, Patrícia Maciel, Manuela Lima
Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease
Anne S. Soehn, Thomas Franck, Saskia Biskup, Emilie Giaime, Christian Melle, Ruth Rott, Daniel Cebo, Hubert Kalbacher, Erwin Ott, Jens Pahnke, Thomas Meitinger, Rejko Krüger, Thomas Gasser, Daniela Berg, Ferdinand von Eggeling, Simone Engelender, Cristine Alves da Costa, Olaf Riess
Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis
Janine Kirby, Emily F. Goodall, William Smith, J. Robin Highley, Rudo Masanzu, Judith A. Hartley, Rachel Hibberd, Hannah C. Hollinger, Stephen B. Wharton, Karen E. Morrison, Paul G. Ince, Christopher J. McDermott, Pamela J. Shaw
Intratumoral patterns of clonal evolution in gliomas
Ana Luísa Vital, Maria Dolores Tabernero, Inês Crespo, Olinda Rebelo, Hermínio Tão, Fernando Gomes, Maria Celeste Lopes, Alberto Orfao
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant
Nadia Bahi-Buisson, Juliette Nectoux, Benoit Girard, Hilde Van Esch, Thomy De Ravel, Nathalie Boddaert, Perrine Plouin, Marlene Rio, Yann Fichou, Jamel Chelly, Thierry Bienvenu
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation
Ginevra Zanni, Hilde van Esch, Anissa Bensalem, Yoann Saillour, Karine Poirier, Laetitia Castelnau, Hans Hilger Ropers, Arjan P. M. de Brouwer, Fréderic Laumonnier, Jean-Pierre Fryns, Jamel Chelly
Isolated eyelid closure myotonia in two families with sodium channel myotonia
B. C. Stunnenberg, H. B. Ginjaar, J. Trip, C. G. Faber, B. G. van Engelen, G. Drost
Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia
Beate Diehl, Michael S. Lee, Janet R. Reid, Craig D. Nielsen, Marvin R. Natowicz
X-linked CMT: genes and gene loci in an Australian cohort
Megan Hwa Brewer, Rabia Chaudhry, Keta McDowall, Shannon Chu, Bartosz Kowalski, Patsie Polly, Garth Nicholson, Marina Kennerson
Suggestive evidence on chromosomes 2 and 19 for HTR1A-independent linkage of genes to major depression
Victor Abkevich, Chris D. Neff, Jennifer Potter, Robin Riley, Donna Shattuck, David A. Katz
Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10
Boris Keren, Aurélia Jacquette, Christel Depienne, Patricia Leite, Alexandra Durr, Wassila Carpentier, Baya Benyahia, Gerard Ponsot, Florent Soubrier, Alexis Brice, Delphine Héron