The Helix
- Open AccessNeurology: Genetics Year in ReviewStefan Pulst, Massimo Pandolfo, Raymond Roos, Margherita Milone, Suman Jayadev
Editorials
Articles
- Open AccessEthnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita 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
- Open AccessEIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher DiseaseDaniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao
- Open AccessWho and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington DiseaseMaria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr
- Open AccessDMPK mRNA Expression in Human Brain Tissue Throughout the LifespanKathleen E. Langbehn, Zoe Carlson-Stadler, Ellen van der Plas, Marco M. Hefti, Jeffrey D. Dawson, David J. Moser, Peggy C. Nopoulos
- Open AccessBlended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari
- Open AccessV374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia ExacerbationsMartin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson, Per Svenningsson
- Open AccessDetailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental DisorderJennifer 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
- Open AccessTrigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca2+]i and Menthol ResponseRoberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman
- Open AccessNew Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic SpectraAnnelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi
- Open AccessMAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and TremorAndreea Ilinca, Elisabet Englund, Sofie Samuelsson, Katarina Truvé, Efthymia Kafantari, Nicolas Martinez-Majander, Jukka Putaala, Claes Håkansson, Arne G. Lindgren, Andreas Puschmann
- Open AccessWGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine KinaseLeigh 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
Clinical/Scientific Notes
- Open AccessBedside Head Impulse Test: A Useful Tool for Patients With Sensory AtaxiaStefano Tozza, Andrea Cortese, Aniello Iovino, Marcello Esposito, Natalia Dominik, Rosa Iodice, Fiore Manganelli
- Open AccessParoxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication SyndromeKeisuke Ueda, Marwan Shinawi, Toni S. Pearson
- Open AccessPossible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral SclerosisShin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
- Open AccessNR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-ParkinsonismSilvia 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
Views & Reviews
- Open AccessCan Anti–β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?Bruno P. Imbimbo, Ugo Lucca, Mark Watling
- Open AccessIs 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
- Open AccessC9orf72 and the Care of the Patient With ALS or FTDProgress and Recommendations After 10 YearsJennifer Roggenbuck
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