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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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August 2019; 5 (4)

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Articles

  • Open Access
    Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy
    Asfia Quadir, Carly Sabine Pontifex, Helen Lee Robertson, Christopher Labos, Gerald Pfeffer
    • Abstract
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  • Open Access
    Human GABRG2 generalized epilepsyIncreased somatosensory and striatothalamic connectivity
    Mangor Pedersen, Magdalena Kowalczyk, Amir Omidvarnia, Piero Perucca, Samuel Gooley, Steven Petrou, Ingrid E. Scheffer, Samuel F. Berkovic, Graeme D. Jackson
    • Abstract
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  • Open Access
    Congenital myopathies in the adult neuromuscular clinicDiagnostic challenges and pitfalls
    Stefan Nicolau, Teerin Liewluck, Jennifer A. Tracy, Ruple S. Laughlin, Margherita Milone
    • Abstract
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  • Open Access
    Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease
    Juan I. Young, Sathesh K. Sivasankaran, Lily Wang, Aleena Ali, Arpit Mehta, David A. Davis, Derek M. Dykxhoorn, Carol K. Petito, Gary W. Beecham, Eden R. Martin, Deborah C. Mash, Margaret Pericak-Vance, William K. Scott, Thomas J. Montine, Jeffery M. Vance
    • Abstract
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  • Open Access
    Altered CSF levels of monoamines in hereditary spastic paraparesis 10A case series
    Mattias Andréasson, Kristina Lagerstedt-Robinson, Kristin Samuelsson, Göran Solders, Kaj Blennow, Martin Paucar, Per Svenningsson
    • Abstract
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  • Open Access
    MAPT p.V363I mutationA rare cause of corticobasal degeneration
    Sarah Ahmed, Monica Diez Fairen, Marya S. Sabir, Pau Pastor, Jinhui Ding, Lourdes Ispierto, Ankur Butala, Christopher M. Morris, Claudia Schulte, Thomas Gasser, Edwin Jabbari, Olga Pletnikova, Huw R. Morris, Juan Troncoso, Ellen Gelpi, Alexander Pantelyat, Sonja W. Scholz
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  • Open Access
    Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features
    Amin Ziaei, Xiaohong Xu, Leila Dehghani, Carine Bonnard, Andreas Zellner, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Christof Haffner, Bruno Reversade, Vahid Shaygannejad, Mahmoud A. Pouladi
    • Abstract
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  • Open Access
    Genetic risk of Parkinson disease and progression:An analysis of 13 longitudinal cohorts
    Hirotaka Iwaki, Cornelis Blauwendraat, Hampton L. Leonard, Ganqiang Liu, Jodi Maple-Grødem, Jean-Christophe Corvol, Lasse Pihlstrøm, Marlies van Nimwegen, Samantha J. Hutten, Khanh-Dung H. Nguyen, Jacqueline Rick, Shirley Eberly, Faraz Faghri, Peggy Auinger, Kirsten M. Scott, Ruwani Wijeyekoon, Vivianna M. Van Deerlin, Dena G. Hernandez, Aaron G. Day-Williams, Alexis Brice, Guido Alves, Alastair J. Noyce, Ole-Bjørn Tysnes, Jonathan R. Evans, David P. Breen, Karol Estrada, Claire E. Wegel, Fabrice Danjou, David K. Simon, Bernard Ravina, Mathias Toft, Peter Heutink, Bastiaan R. Bloem, Daniel Weintraub, Roger A. Barker, Caroline H. Williams-Gray, Bart P. van de Warrenburg, Jacobus J. Van Hilten, Clemens R. Scherzer, Andrew B. Singleton, Mike A. Nalls
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  • Open Access
    New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy
    Sejad Al-Tahan, Lan Weiss, Howard Yu, Sha Tang, Mario Saporta, Anna Vihola, Tahseen Mozaffar, Bjarne Udd, Virginia Kimonis
    • Abstract
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Clinical/Scientific Notes

  • Open Access
    Missense mutations in DYT-TOR1A dystonia
    Zafar Iqbal, Jeanette Koht, Lasse Pihlstrøm, Sandra P. Henriksen, Chiara Cappelletti, Michael Bjørn Russel, Osmar Norberto de Souza, Inger Marie Skogseid, Mathias Toft
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  • Open Access
    Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing
    Martin Krenn, Ivan Milenkovic, Gertrud Eckstein, Fritz Zimprich, Thomas Meitinger, Thomas Foki, Matias Wagner
    • Full Text
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Corrections

  • Missense mutations in DYT-TOR1A dystonia
    • Full Text
    • Full Text (PDF)
  • Genetic risk of Parkinson disease and progression: An analysis of 13 longitudinal cohorts
    • Full Text
    • Full Text (PDF)
  • Genome-wide Brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease
    • Full Text
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