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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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December 2017; 3 (6)

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  • Open Access
    c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia
    Ali 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
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    Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy
    Jeffrey D. Calhoun, Carlos G. Vanoye, Fernando Kok, Alfred L. George, Jennifer A. Kearney
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  • Open Access
    Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations
    Carla 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
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    CDKL5 variantsImproving our understanding of a rare neurologic disorder
    Ralph 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
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  • Open Access
    Factors influencing the age at onset in familial frontotemporal lobar dementiaImportant weight of genetics
    Mathieu 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
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  • Open Access
    NaV channel variants in patients with painful and nonpainful peripheral neuropathy
    Samir 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
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  • Open Access
    Copy number variation analysis increases the diagnostic yield in muscle diseases
    Salla 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
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  • Open Access
    Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes
    Mohammed 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
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  • Open Access
    Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
    Rabah 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
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Clinical/Scientific Notes

  • Open Access
    Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia
    Celine 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
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  • Open Access
    Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome
    Hugo 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
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  • Open Access
    Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia
    Ewen 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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