Neurogenetics

The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments

Ian R. A. Mackenzie, Rosa Rademakers

CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations

Katrin Voss, Sonja Stahl, Elisa Schleider, Sybille Ullrich, Joachim Nickel, Thomas D. Mueller, Ute Felbor

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

Kinga Szigeti, Wojciech Wiszniewski, Gulam Mustafa Saifi, Diane L. Sherman, Norbert Sule, Adekunle M. Adesina, Pedro Mancias, Sozos Ch. Papasozomenos, Geoffrey Miller, Laura Keppen, Donna Daentl, Peter J. Brophy, James R. Lupski

Evidence of shared risk for Alzheimer’s disease and Parkinson’s disease using family history

Ami R. Rosen, N. Kyle Steenland, John Hanfelt, Stewart A. Factor, James J. Lah, Allan I. Levey

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

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease

Ute Hehr, Goekhan Uyanik, Claudia Gross, Maggie C. Walter, Axel Bohring, Monika Cohen, Barbara Oehl-Jaschkowitz, Lynne M. Bird, Ghiat M. Shamdeen, Ulrich Bogdahn, Gerhard Schuierer, Haluk Topaloglu, Ludwig Aigner, Hanns Lochmüller, Jürgen Winkler

Frataxin gene point mutations in Italian Friedreich ataxia patients

Cinzia Gellera, Barbara Castellotti, Caterina Mariotti, Rossana Mineri, Viviana Seveso, Stefano DiDonato, Franco Taroni

SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation

Roberto Del Bo, Alessio Di Fonzo, Serena Ghezzi, Federica Locatelli, Giovanni Stevanin, Antonella Costa, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

Nizar Elleuch, Naima Bouslam, Sylvain Hanein, Alexander Lossos, Abdelmadjid Hamri, Stephan Klebe, Vardiella Meiner, Nezha Birouk, Israela Lerer, Djamel Grid, Delphine Bacq, Meriem Tazir, Diana Zelenika, Zohar Argov, Alexandra Durr, Mohamed Yahyaoui, Ali Benomar, Alexis Brice, Giovanni Stevanin

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion

Christian Beetz, Anders O. H. Nygren, Thomas Deufel, Evan Reid

Acknowledgement to Referees 2006/2007