Issue 2/2009
Content (14 Articles)
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)
C. D. Coldren, Z. Lai, P. Shragg, E. Rossi, S. C. Glidewell, O. Zuffardi, T. Mattina, D. D. Ivy, L. M. Curfs, S. N. Mattson, E. P. Riley, M. Treier, P. D. Grossfeld
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia
Rebecca Schüle, Elisabeth Brandt, Kathrin N. Karle, Maria Tsaousidou, Stephan Klebe, Sven Klimpe, Michaela Auer-Grumbach, Andrew H. Crosby, Christian A. Hübner, Ludger Schöls, Thomas Deufel, Christian Beetz
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)
Channa Hewamadduma, Christopher McDermott, Janine Kirby, Andrew Grierson, Maria Panayi, Ann Dalton, Yusuuf Rajabally, Pamela Shaw
Familial risks for amyotrophic lateral sclerosis and autoimmune diseases
Kari Hemminki, Xinjun Li, Jan Sundquist, Kristina Sundquist
Gene expression in blood of subjects with Duchenne muscular dystrophy
Brenda Wong, Donald L. Gilbert, Wynn L. Walker, Isaac H. Liao, Lisa Lit, Boryana Stamova, Glen Jickling, Michelle Apperson, Frank R. Sharp
The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform
Yann Fichou, Juliette Nectoux, Nadia Bahi-Buisson, Haydeé Rosas-Vargas, Benoit Girard, Jamel Chelly, Thierry Bienvenu
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated
Thorsten Hornemann, Anke Penno, Stephane Richard, Garth Nicholson, Fleur S. van Dijk, Annelies Rotthier, Vincent Timmerman, Arnold von Eckardstein
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
Julien Cassereau, Arnaud Chevrollier, Naïg Gueguen, Marie-Claire Malinge, Franck Letournel, Guillaume Nicolas, Laurence Richard, Marc Ferre, Christophe Verny, Frédéric Dubas, Vincent Procaccio, Patrizia Amati-Bonneau, Dominique Bonneau, Pascal Reynier
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss
Alessandra Terracciano, Carlo Casali, Gaetano S. Grieco, Daniela Orteschi, Silvia Di Giandomenico, Laura Seminara, Roberto Di Fabio, Rosalba Carrozzo, Alessandro Simonati, Giovanni Stevanin, Marcella Zollino, Filippo M. Santorelli
LRRK2 G2019S and R1441G mutations associated with Parkinson’s disease are common in the Basque Country, but relative prevalence is determined by ethnicity
A. Gorostidi, J. Ruiz-Martínez, A. Lopez de Munain, A. Alzualde, J. F. Martí Massó
Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis
Sara Sebnem Kilic, Rifatcan Ozturk, Bartu Sarisozen, Annelies Rotthier, Jonathan Baets, Vincent Timmerman
Comment on the article “Heterogeneous dysregulation of microRNAs across the autism spectrum” by Abu-Elneel et al.
Steven Buyske
Reply to the “Letter to the Editors” by Steven Buyske
K. Abu-Elneel, T. Liu, F. S. Gazzaniga, Y. Nishimura, D. P. Wall, D. H. Geschwind, K. Lao, K. S. Kosik
Robust quantification of the SMN gene copy number by real-time TaqMan PCR
Ilsa Gómez-Curet, Karyn G. Robinson, Vicky L. Funanage, Thomas O. Crawford, Mena Scavina, Wenlan Wang