Neurogenetics

Genetic modifiers in Huntington’s disease: fiction or fact?

Larissa Arning, Jörg T. Epplen

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset

Eliana Marisa Ramos, Jeanne C. Latourelle, Tammy Gillis, Jayalakshmi S. Mysore, Ferdinando Squitieri, Alba Di Pardo, Stefano Di Donato, Cinzia Gellera, Michael R. Hayden, Patrick J. Morrison, Martha Nance, Christopher A. Ross, Russell L. Margolis, Estrella Gomez-Tortosa, Carmen Ayuso, Oksana Suchowersky, Ronald J. Trent, Elizabeth McCusker, Andrea Novelletto, Marina Frontali, Randi Jones, Tetsuo Ashizawa, Samuel Frank, Marie-Helene Saint-Hilaire, Steven M. Hersch, Herminia D. Rosas, Diane Lucente, Madaline B. Harrison, Andrea Zanko, Ruth K. Abramson, Karen Marder, James F. Gusella, Jong-Min Lee, Isabel Alonso, Jorge Sequeiros, Richard H. Myers, Marcy E. MacDonald

Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort

G. Yoon, B. Baskin, M. Tarnopolsky, K. M. Boycott, M. T. Geraghty, E. Sell, S. Goobie, W. Meschino, B. Banwell, P. N. Ray

Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman

I. Borgulová, R. Mazanec, I. Sakmaryová, M. Havlová, D. Šafka Brožková, P. Seeman

Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature

Birgitte Bertelsen, Nanette Mol Debes, Lena E. Hjermind, Liselotte Skov, Karen Brøndum-Nielsen, Zeynep Tümer

Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy

Tobias Geis, Klaus Marquard, Tanja Rödl, Christof Reihle, Sophie Schirmer, Thekla von Kalle, Antje Bornemann, Ute Hehr, Markus Blankenburg

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

Stéphanie Valence, Karine Poirier, Nicolas Lebrun, Yoann Saillour, Pascale Sonigo, Bettina Bessières, Tania Attié-Bitach, Alexandra Benachi, Cécile Masson, Ferechté Encha-Razavi, Jamel Chelly, Nadia Bahi-Buisson

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

Chihiro Ohba, Hitoshi Osaka, Mizue Iai, Sumimasa Yamashita, Yume Suzuki, Noriko Aida, Nobuyuki Shimozawa, Ayumi Takamura, Hiroshi Doi, Atsuko Tomita-Katsumoto, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Yoshikatsu Eto, Fumiaki Tanaka, Naomichi Matsumoto, Hirotomo Saitsu

Neuroligin modulates the locomotory dopaminergic and serotonergic neuronal pathways of C. elegans

Patricia G. Izquierdo, Fernando Calahorro, Manuel Ruiz-Rubio

A truncating mutation in B3GNT1 causes severe Walker–Warburg syndrome

Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Fowzan S. Alkuraya

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

Ginevra Zanni, Chiara Scotton, Chiara Passarelli, Mingyan Fang, Sabina Barresi, Bruno Dallapiccola, Bin Wu, Francesca Gualandi, Alessandra Ferlini, E. Bertini, Wang Wei

Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome

Axel Weber, Angelika Köhler, Andreas Hahn, Bernd Neubauer, Ulrich Müller

Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutation

L. Di Vito, D. de Biase, A. Pession, M. Visani, R. Liguori, S. Zambito Marsala, V. Leta, P. De Carolis, V. Donadio

The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

Anna Duarri, Esther Nibbeling, Michiel R. Fokkens, Michel Meijer, Erik Boddeke, Emmeline Lagrange, Giovanni Stevanin, Alexis Brice, Alexandra Durr, Dineke S. Verbeek

Acknowledgement to Referees 2012/2013