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Neurology

  • TBC1D24 truncating mutation resulting in severe neurodegeneration
    Ayse Guven, Aslıhan Tolun
    Journal of Medical Genetics Mar 2013, 50 (3) 199-202; DOI: 10.1136/jmedgenet-2012-101313
  • Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy
    Sarah E Heron, Leanne M Dibbens
    Journal of Medical Genetics Mar 2013, 50 (3) 133-139; DOI: 10.1136/jmedgenet-2012-101406
  • Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk
    Christina M Lill, Brit-Maren M Schjeide, Christiane Graetz, Tian Liu, Vincent Damotte, Denis A Akkad, Paul Blaschke, Lisa-Ann Gerdes, Antje Kroner, Felix Luessi, Isabelle Cournu-Rebeix, Sabine Hoffjan, Alexander Winkelmann, Emmanuel Touze, Fernando Pico, Philippe Corcia, David Otaegui, Alfredo Antigüedad, Antonio Alcina, Manuel Comabella, Xavier Montalban, Javier Olascoaga, Fuencisla Matesanz, Thomas Dörner, Shu-Chen Li, Elisabeth Steinhagen-Thiessen, Ulman Lindenberger, Andrew Chan, Peter Rieckmann, Hans-Peter Hartung, Orhan Aktas, Peter Lohse, Mathias Buttmann, Tania Kümpfel, Christian Kubisch, Uwe K Zettl, Joerg T Epplen, Bertrand Fontaine, Frauke Zipp, Koen Vandenbroeck, Lars Bertram
    Journal of Medical Genetics Mar 2013, 50 (3) 140-143; DOI: 10.1136/jmedgenet-2012-101411
  • Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success
    Suzanne C E H Sallevelt, Joseph C F M Dreesen, Marion Drüsedau, Sabine Spierts, Edith Coonen, Florence H J van Tienen, Ronald J T van Golde, Irineus F M de Coo, Joep P M Geraedts, Christine E M de Die-Smulders, Hubert J M Smeets
    Journal of Medical Genetics Feb 2013, 50 (2) 125-132; DOI: 10.1136/jmedgenet-2012-101172
  • Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy
    Simon Edvardson, Shimrit Oz, Fida Aziz Abulhijaa, Flora Barghouthi Taher, Avraham Shaag, Shamir Zenvirt, Nathan Dascal, Orly Elpeleg
    Journal of Medical Genetics Feb 2013, 50 (2) 118-123; DOI: 10.1136/jmedgenet-2012-101223
  • Mutation of HERC2 causes developmental delay with Angelman-like features
    Gaurav V Harlalka, Emma L Baple, Harold Cross, Simone Kühnle, Monica Cubillos-Rojas, Konstantin Matentzoglu, Michael A Patton, Karin Wagner, Roselyn Coblentz, Debra L Ford, Deborah J G Mackay, Barry A Chioza, Martin Scheffner, Jose Luis Rosa, Andrew H Crosby
    Journal of Medical Genetics Feb 2013, 50 (2) 65-73; DOI: 10.1136/jmedgenet-2012-101367
  • Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis
    Antonio Alcina, Maria Fedetz, Óscar Fernández, Albert Saiz, Guillermo Izquierdo, Miguel Lucas, Laura Leyva, Juan-Antonio García-León, María del Mar Abad-Grau, Iraide Alloza, Alfredo Antigüedad, María J Garcia-Barcina, Koen Vandenbroeck, Jezabel Varadé, Belén de la Hera, Rafael Arroyo, Manuel Comabella, Xavier Montalban, Natalia Petit-Marty, Arcadi Navarro, David Otaegui, Javier Olascoaga, Yolanda Blanco, Elena Urcelay, Fuencisla Matesanz
    Journal of Medical Genetics Jan 2013, 50 (1) 25-33; DOI: 10.1136/jmedgenet-2012-101085
  • Mutation in MPDZ causes severe congenital hydrocephalus
    Mohammed S Al-Dosari, Mohammed Al-Owain, Maha Tulbah, Wesam Kurdi, Nouran Adly, Amal Al-Hemidan, Tariq A Masoodi, Buthainah Albash, Fowzan S Alkuraya
    Journal of Medical Genetics Jan 2013, 50 (1) 54-58; DOI: 10.1136/jmedgenet-2012-101294
  • The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
    Jean-Benoît Courcet, Laurence Faivre, Perrine Malzac, Alice Masurel-Paulet, Estelle Lopez, Patrick Callier, Laetitia Lambert, Martine Lemesle, Julien Thevenon, Nadège Gigot, Laurence Duplomb, Clémence Ragon, Nathalie Marle, Anne-Laure Mosca-Boidron, Frédéric Huet, Christophe Philippe, Anne Moncla, Christel Thauvin-Robinet
    Journal of Medical Genetics Dec 2012, 49 (12) 731-736; DOI: 10.1136/jmedgenet-2012-101251
  • A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
    Haruo Shimazaki, Yoshihisa Takiyama, Hiroyuki Ishiura, Chika Sakai, Yuichi Matsushima, Hideyuki Hatakeyama, Junko Honda, Kumi Sakoe, Tametou Naoi, Michito Namekawa, Yoko Fukuda, Yuji Takahashi, Jun Goto, Shoji Tsuji, Yu-ichi Goto, Imaharu Nakano, and Japan Spastic Paraplegia Research Consortium (JASPAC)
    Journal of Medical Genetics Dec 2012, 49 (12) 777-784; DOI: 10.1136/jmedgenet-2012-101212

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