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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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February 2021; 7 (1)

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The Helix

  • Open Access
    Neurology: Genetics Year in Review
    Stefan Pulst, Massimo Pandolfo, Raymond Roos, Margherita Milone, Suman Jayadev
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Editorials

  • Open Access
    Molecular Diagnosis in 100% of DystrophinopathiesAre We There Yet?
    Elena Pegoraro
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  • Open Access
    Does Somatic Mosaicism Account for Some Sporadic ALS?
    Éanna B. Ryan, Han-Xiang Deng
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Articles

  • Open Access
    Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
    Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini
    • Abstract
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  • Open Access
    EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease
    Daniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao
    • Abstract
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  • Open Access
    Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
    Maria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr
    • Abstract
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  • Open Access
    DMPK mRNA Expression in Human Brain Tissue Throughout the Lifespan
    Kathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos
    • Abstract
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  • Open Access
    Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
    Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari
    • Abstract
    • Full Text
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  • Open Access
    V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
    Martin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson
    • Abstract
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  • Open Access
    Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
    Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard Frye, Silke Hamp, Cynthia G. Keator, Nicole M. LaMarca, Alexis B.R. Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung
    • Abstract
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  • Open Access
    Trigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol Response
    Roberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman
    • Abstract
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  • Open Access
    New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
    Annelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi
    • Abstract
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  • Open Access
    MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
    Andreea Ilinca, Elisabet Englund, Sofie Samuelsson, Katarina Truvé, Efthymia Kafantari, Nicolas Martinez-Majander, Jukka Putaala, Claes Håkansson, Arne G. Lindgren, Andreas Puschmann
    • Abstract
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  • Open Access
    WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
    Leigh B. Waddell, Samantha J. Bryen, Beryl B. Cummings, Adam Bournazos, Frances J. Evesson, Himanshu Joshi, Jamie L. Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R. Davis, Fathimath Faiz, Rebecca Gooding, Sarah A. Sandaradura, Gina L. O'Grady, Michel C. Tchan, David R. Mowat, Emily C. Oates, Michelle A. Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N. Kenwright, Nicole Graf, Susan Arbuckle, Nigel F. Clarke, Daniel G. MacArthur, Kristi J. Jones, Monkol Lek, Sandra T. Cooper
    • Abstract
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Clinical/Scientific Notes

  • Open Access
    Bedside Head Impulse Test: A Useful Tool for Patients With Sensory Ataxia
    Stefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli
    • Full Text
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  • Open Access
    Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome
    Keisuke Ueda, Marwan Shinawi, Toni S. Pearson
    • Full Text
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  • Open Access
    Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
    Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
    • Full Text
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  • Open Access
    NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
    Silvia Jesús, Isabel Hinarejos, Fátima Carrillo, Dolores Martínez-Rubio, Daniel Macías-García, Ana Sánchez-Monteagudo, Astrid Adarmes, Vincenzo Lupo, Belén Pérez-Dueñas, Pablo Mir, Carmen Espinós
    • Full Text
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Views & Reviews

  • Open Access
    Can Anti–β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?
    Bruno P. Imbimbo, Ugo Lucca, Mark Watling
    • Abstract
    • Full Text
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  • Open Access
    Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
    Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Paola Dimartino, Carmen Barba, Rita Garbelli, Anna Maria Buccoliero, Laura Tassi, Valerio Conti
    • Abstract
    • Full Text
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  • Open Access
    C9orf72 and the Care of the Patient With ALS or FTDProgress and Recommendations After 10 Years
    Jennifer Roggenbuck
    • Abstract
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Correction

  • Genetic Risk Scores and Hallucinations in Parkinson Disease Patients
    • Full Text
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