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Neurogenetics

Ausgabe 1/2014

Inhalt (11 Artikel)

Short Communication

Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families

Lizbeth E. García-Velázquez, Samuel Canizales-Quinteros, Sandra Romero-Hidalgo, Adriana Ochoa-Morales, Leticia Martínez-Ruano, Carla Márquez-Luna, Víctor Acuña-Alonzo, M. Teresa Villarreal-Molina, M. Elisa Alonso-Vilatela, Petra Yescas-Gómez

Short Communication

The documentation of consent and disclosure of neurogenetic testing outside clinical genetics

C. Lo, J. Martindale, M. Hadjivassiliou, P. Martin, A. Dalton, O. Bandmann

Original Article

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

Matt Baker, Audrey J. Strongosky, Monica Y. Sanchez-Contreras, Shan Yang, Will Ferguson, Donald B. Calne, Susan Calne, A. Jon Stoessl, Judith E. Allanson, Daniel F. Broderick, Michael L. Hutton, Dennis W. Dickson, Owen A. Ross, Zbigniew K. Wszolek, Rosa Rademakers

Open Access Original Article

Mutations in MAPT give rise to aneuploidy in animal models of tauopathy

Giacomina Rossi, Donatella Conconi, Elena Panzeri, Laura Paoletta, Elena Piccoli, Maria Giulia Ferretti, Michela Mangieri, Margherita Ruggerone, Leda Dalprà, Fabrizio Tagliavini

Original Article

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations

Tanit Arnedo, Chiara Aiello, Elena Jeworutzki, Maria Lisa Dentici, Graziella Uziel, Alessandro Simonati, Michael Pusch, Enrico Bertini, Raúl Estévez

Open Access Original Article

Rare variants in LRRK1 and Parkinson's disease

Eva C. Schulte, Daniel C. Ellwanger, Sybille Dihanich, Claudia Manzoni, Katrin Stangl, Barbara Schormair, Elisabeth Graf, Sebastian Eck, Brit Mollenhauer, Dietrich Haubenberger, Walter Pirker, Alexander Zimprich, Thomas Brücke, Peter Lichtner, Annette Peters, Christian Gieger, Claudia Trenkwalder, Hans-Werner Mewes, Thomas Meitinger, Patrick A. Lewis, Hans H. Klünemann, Juliane Winkelmann

Original Article

Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures

Karen N. McFarland, Jilin Liu, Ivette Landrian, Desmond Zeng, Salmo Raskin, Mariana Moscovich, Emilia M. Gatto, Adriana Ochoa, Hélio A. G. Teive, Astrid Rasmussen, Tetsuo Ashizawa

Original Article

Genetic determinants of neuroglobin transcription

R. Wang, E. Halper-Stromberg, M. Szymanski-Pierce, S. S. Bassett, D. Avramopoulos

Letter to the Editors

Evidence of a role for SNCA in impulse control in humans

Casey R. Guillot, Jennifer R. Fanning, Tiebing Liang, Mitchell E. Berman

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