Articles
- Open Accessc.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystoniaAli S. Shalash, Thomas W. Rösler, Stefanie H. Müller, Mohamed Salama, Günther Deuschl, Ulrich Müller, Thomas Opladen, Britt-Sabina Petersen, Andre Franke, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U. Höglinger
- Open AccessCharacterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsyJeffrey D. Calhoun, Carlos G. Vanoye, Fernando Kok, Alfred L. George, Jennifer A. Kearney
- Open AccessClinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutationsCarla Marini, Michele Romoli, Elena Parrini, Cinzia Costa, Davide Mei, Francesco Mari, Lucio Parmeggiani, Elena Procopio, Tiziana Metitieri, Elena Cellini, Simona Virdò, Dalila De Vita, Mattia Gentile, Paolo Prontera, Paolo Calabresi, Renzo Guerrini
- Open AccessCDKL5 variantsImproving our understanding of a rare neurologic disorderRalph D. Hector, Vera M. Kalscheuer, Friederike Hennig, Helen Leonard, Jenny Downs, Angus Clarke, Tim A. Benke, Judith Armstrong, Mercedes Pineda, Mark E.S. Bailey, Stuart R. Cobb
- Open AccessFactors influencing the age at onset in familial frontotemporal lobar dementiaImportant weight of geneticsMathieu Barbier, Agnès Camuzat, Marion Houot, Fabienne Clot, Paola Caroppo, Clémence Fournier, Daisy Rinaldi, Florence Pasquier, Didier Hannequin, Jérémie Pariente, Kathy Larcher, The French Clinical and Genetic Research Network on FTD/FTD-ALS*, Predict-PGRN & PrevDemAls Study Groups†, Alexis Brice, Emmanuelle Génin, Audrey Sabbagh, Isabelle Le Ber
- Open AccessNaV channel variants in patients with painful and nonpainful peripheral neuropathySamir Wadhawan, Saumya Pant, Ryan Golhar, Stefan Kirov, John Thompson, Leslie Jacobsen, Irfan Qureshi, Senda Ajroud-Driss, Roy Freeman, David M. Simpson, A. Gordon Smith, Ahmet Hoke, Linda J. Bristow
- Open AccessCopy number variation analysis increases the diagnostic yield in muscle diseasesSalla Välipakka, Marco Savarese, Mridul Johari, Lydia Sagath, Meharji Arumilli, Kirsi Kiiski, Amets Sáenz, Adolfo Lopez de Munain, Ana-Maria Cobo, Katarina Pelin, Bjarne Udd, Peter Hackman
- Open AccessGermline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypesMohammed Uddin, Marc Woodbury-Smith, Ada Chan, Ledia Brunga, Sylvia Lamoureux, Giovanna Pellecchia, Ryan K.C. Yuen, Muhammad Faheem, Dimitri J. Stavropoulos, James Drake, Cecil D. Hahn, Cynthia Hawkins, Adam Shlien, Christian R. Marshall, Lesley A. Turner, Berge A. Minassian, Stephen W. Scherer, Cyrus Boelman
- Open AccessClinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiencyRabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, Julia R. Dahlqvist, David Gaist, Nathalie Streichenberger, Maud Beuvin, Martin Krahn, Philippe Petiot, Frédéric Parisot, Fabrice Michel, Edoardo Malfatti, Norma Romero, Robert Yves Carlier, Bruno Eymard, Philippe Labrune, Morten Duno, Thomas Krag, Mathieu Cerino, Marc Bartoli, Gisèle Bonne, John Vissing, Pascal Laforet, François M. Petit
Clinical/Scientific Notes
- Open AccessNovel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystoniaCeline Bris, Tiphaine Rouaud, Valerie Desquiret-Dumas, Naig Gueguen, David Goudenege, Magalie Barth, Dominique Bonneau, Patrizia Amati-Bonneau, Guy Lenaers, Pascal Reynier, Anne-Sophie Lebre, Vincent Procaccio
- Open AccessNovel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndromeHugo Botha, NiCole A. Finch, Ralitza H. Gavrilova, Mary M. Machulda, Julie A. Fields, Val J. Lowe, Ronald C. Petersen, Clifford R. Jack, Christina M. Dheel, Debra J. Gearhart, David S. Knopman, Rosa Rademakers, Bradley F. Boeve
- Open AccessOpening One's Eyes to Mosaicism in Progressive External OphthalmoplegiaEwen W. Sommerville, Rachel L. Jones, Steven A. Hardy, Emma L. Blakely, Angela Pyle, Andrew M. Schaefer, Patrick F. Chinnery, Douglass M. Turnbull, Gráinne S. Gorman, Robert W. Taylor
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