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Neurology

  • Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis
    Simon Edvardson, Angel Ashikov, Chaim Jalas, Luisa Sturiale, Avraham Shaag, Anastasia Fedick, Nathan R Treff, Domenico Garozzo, Rita Gerardy-Schahn, Orly Elpeleg
    Journal of Medical Genetics Nov 2013, 50 (11) 733-739; DOI: 10.1136/jmedgenet-2013-101753
  • Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism
    Çiğdem Köroğlu, Mehmet Seven, Aslıhan Tolun
    Journal of Medical Genetics Aug 2013, 50 (8) 515-520; DOI: 10.1136/jmedgenet-2013-101634
  • A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia
    Eleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, Alessandra M A Chiotto, Marco Rolando, Ludovica Verdun di Cantogno, Enrico Grosso, Simona Cavalieri, Alessandro Calcia, Daniela Lacerenza, Orsetta Zuffardi, Saverio Francesco Retta, Giovanni Stevanin, Cecilia Marelli, Alexandra Durr, Sylvie Forlani, Jamel Chelly, Francesca Montarolo, Filippo Tempia, Hilary E Beggs, Robin Reed, Stefania Squadrone, Maria C Abete, Alessandro Brussino, Natascia Ventura, Ferdinando Di Cunto, Alfredo Brusco
    Journal of Medical Genetics Aug 2013, 50 (8) 543-551; DOI: 10.1136/jmedgenet-2013-101542
  • A new seipin-associated neurodegenerative syndrome
    Encarna Guillén-Navarro, Sofía Sánchez-Iglesias, Rosario Domingo-Jiménez, Berta Victoria, Alejandro Ruiz-Riquelme, Alberto Rábano, Lourdes Loidi, Andrés Beiras, Blanca González-Méndez, Adriana Ramos, Vanesa López-González, María Juliana Ballesta-Martínez, Miguel Garrido-Pumar, Pablo Aguiar, Alvaro Ruibal, Jesús R Requena, David Araújo-Vilar
    Journal of Medical Genetics Jun 2013, 50 (6) 401-409; DOI: 10.1136/jmedgenet-2013-101525
  • Recent advances in the molecular genetics of epilepsy
    Michael S Hildebrand, Hans-Henrik M Dahl, John Anthony Damiano, Richard J H Smith, Ingrid E Scheffer, Samuel F Berkovic
    Journal of Medical Genetics May 2013, 50 (5) 271-279; DOI: 10.1136/jmedgenet-2012-101448
  • Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter
    Simon Edvardson, Vito Porcelli, Chaim Jalas, Devorah Soiferman, Yuval Kellner, Avraham Shaag, Stanley H Korman, Ciro Leonardo Pierri, Pasquale Scarcia, Nitay D Fraenkel, Reeval Segel, Abraham Schechter, Ayala Frumkin, Ophry Pines, Ann Saada, Luigi Palmieri, Orly Elpeleg
    Journal of Medical Genetics Apr 2013, 50 (4) 240-245; DOI: 10.1136/jmedgenet-2012-101485
  • 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
  • Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome
    Audrey Putoux, Sheela Nampoothiri, Nicole Laurent, Valérie Cormier-Daire, Philip L Beales, Albert Schinzel, Deborah Bartholdi, Caroline Alby, Sophie Thomas, Nadia Elkhartoufi, Amale Ichkou, Julie Litzler, Arnold Munnich, Férechté Encha-Razavi, Rajesh Kannan, Laurence Faivre, Nathalie Boddaert, Anita Rauch, Michel Vekemans, Tania Attié-Bitach
    Journal of Medical Genetics Nov 2012, 49 (11) 713-720; DOI: 10.1136/jmedgenet-2012-101016
  • Mutations in TMEM231 cause Joubert syndrome in French Canadians
    Myriam Srour, Fadi F Hamdan, Jeremy A Schwartzentruber, Lysanne Patry, Luis H Ospina, Michael I Shevell, Valérie Désilets, Sylvia Dobrzeniecka, Géraldine Mathonnet, Emmanuelle Lemyre, Christine Massicotte, Damian Labuda, Dina Amrom, Eva Andermann, Guillaume Sébire, Bruno Maranda, FORGE Canada Consortium, Guy A Rouleau, Jacek Majewski, Jacques L Michaud
    Journal of Medical Genetics Oct 2012, 49 (10) 636-641; DOI: 10.1136/jmedgenet-2012-101132

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