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Neurology

  • Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus
    Anais Drielsma, Chaim Jalas, Nicolas Simonis, Julie Désir, Natalia Simanovsky, Isabelle Pirson, Orly Elpeleg, Marc Abramowicz, Simon Edvardson
    Journal of Medical Genetics Nov 2012, 49 (11) 708-712; DOI: 10.1136/jmedgenet-2012-101190
  • A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
    Manu Sharma, John P A Ioannidis, Jan O Aasly, Grazia Annesi, Alexis Brice, Lars Bertram, Maria Bozi, Maria Barcikowska, David Crosiers, Carl E Clarke, Maurizio F Facheris, Matthew Farrer, Gaetan Garraux, Suzana Gispert, Georg Auburger, Carles Vilariño-Güell, Georgios M Hadjigeorgiou, Andrew A Hicks, Nobutaka Hattori, Beom S Jeon, Zygmunt Jamrozik, Anna Krygowska-Wajs, Suzanne Lesage, Christina M Lill, Juei-Jueng Lin, Timothy Lynch, Peter Lichtner, Anthony E Lang, Cecile Libioulle, Miho Murata, Vincent Mok, Barbara Jasinska-Myga, George D Mellick, Karen E Morrison, Thomas Meitnger, Alexander Zimprich, Grzegorz Opala, Peter P Pramstaller, Irene Pichler, Sung Sup Park, Aldo Quattrone, Ekaterina Rogaeva, Owen A. Ross, Leonidas Stefanis, Joanne D Stockton, Wataru Satake, Peter A Silburn, Tim M Strom, Jessie Theuns, Eng- King Tan, Tatsushi Toda, Hiroyuki Tomiyama, Ryan J Uitti, Christine Van Broeckhoven, Karin Wirdefeldt, Zbigniew Wszolek, Georgia Xiromerisiou, Harumi S Yomono, Kuo-Chu Yueh, Yi Zhao, Thomas Gasser, Demetrius Maraganore, Rejko Krüger, on behalf of GEOPD consortium
    Journal of Medical Genetics Nov 2012, 49 (11) 721-726; DOI: 10.1136/jmedgenet-2012-101155
  • Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects
    Christina M Lill, Tian Liu, Brit-Maren M Schjeide, Johannes T Roehr, Denis A Akkad, Vincent Damotte, Antonio Alcina, Miguel A Ortiz, Rafa Arroyo, Aitzkoa Lopez de Lapuente, Paul Blaschke, Alexander Winkelmann, Lisa-Ann Gerdes, Felix Luessi, Oscar Fernadez, Guillermo Izquierdo, Alfredo Antigüedad, Sabine Hoffjan, Isabelle Cournu-Rebeix, Silvana Gromöller, Hans Faber, Maria Liebsch, Esther Meissner, Coralie Chanvillard, Emmanuel Touze, Fernando Pico, Philippe Corcia, Thomas Dörner, Elisabeth Steinhagen-Thiessen, Lars Baeckman, Hauke R Heekeren, Shu-Chen Li, Ulman Lindenberger, Andrew Chan, Hans-Peter Hartung, Orhan Aktas, Peter Lohse, Tania Kümpfel, Christian Kubisch, Joerg T Epplen, Uwe K Zettl, Bertrand Fontaine, Koen Vandenbroeck, Fuencisla Matesanz, Elena Urcelay, Lars Bertram, Frauke Zipp
    Journal of Medical Genetics Sep 2012, 49 (9) 558-562; DOI: 10.1136/jmedgenet-2012-101175
  • Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
    Charlotte L Alston, James E Davison, Francesca Meloni, Francois H van der Westhuizen, Langping He, Hue-Tran Hornig-Do, Andrew C Peet, Paul Gissen, Paola Goffrini, Ileana Ferrero, Evangeline Wassmer, Robert McFarland, Robert W Taylor
    Journal of Medical Genetics Sep 2012, 49 (9) 569-577; DOI: 10.1136/jmedgenet-2012-101146
  • Complex I deficiency: clinical features, biochemistry and molecular genetics
    Elisa Fassone, Shamima Rahman
    Journal of Medical Genetics Sep 2012, 49 (9) 578-590; DOI: 10.1136/jmedgenet-2012-101159
  • Neurofibromatosis type 1: from genotype to phenotype
    Eric Pasmant, Michel Vidaud, Dominique Vidaud, Pierre Wolkenstein
    Journal of Medical Genetics Aug 2012, 49 (8) 483-489; DOI: 10.1136/jmedgenet-2012-100978
  • Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma
    Nelly Sabbaghian, Nancy Hamel, Archana Srivastava, Steffen Albrecht, John R Priest, William D Foulkes
    Journal of Medical Genetics Jul 2012, 49 (7) 417-419; DOI: 10.1136/jmedgenet-2012-100898
  • Rare TP53 genetic variant associated with glioma risk and outcome
    Kathleen M Egan, L Burton Nabors, Jeffrey J Olson, Alvaro N Monteiro, James E Browning, Melissa H Madden, Reid C Thompson
    Journal of Medical Genetics Jul 2012, 49 (7) 420-421; DOI: 10.1136/jmedgenet-2012-100941
  • A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
    Yifat Zivony-Elboum, Wendy Westbroek, Nehama Kfir, David Savitzki, Yishay Shoval, Assnat Bloom, Raya Rod, Morad Khayat, Bella Gross, Walid Samri, Hector Cohen, Vadim Sonkin, Tatiana Freidman, Dan Geiger, Aviva Fattal-Valevski, Yair Anikster, Aoife M Waters, Robert Kleta, Tzipora C Falik-Zaccai
    Journal of Medical Genetics Jul 2012, 49 (7) 462-472; DOI: 10.1136/jmedgenet-2012-100742
  • Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
    Maria Kousi, Verneri Anttila, Angela Schulz, Stella Calafato, Eveliina Jakkula, Erik Riesch, Liisa Myllykangas, Hannu Kalimo, Meral Topçu, Sarenur Gökben, Fusun Alehan, Johannes R Lemke, Michael Alber, Aarno Palotie, Outi Kopra, Anna-Elina Lehesjoki
    Journal of Medical Genetics Jun 2012, 49 (6) 391-399; DOI: 10.1136/jmedgenet-2012-100859

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