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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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