Research Articles
- Open AccessA Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson DiseaseBaseline ResultsStella Jensen-Roberts, Taylor L. Myers, Peggy Auinger, Paul Cannon, Helen M. Rowbotham, Daniella Coker, Eli Chanoff, Julia Soto, Meghan Pawlik, Katherine Amodeo, Saloni Sharma, Blanca Valdovinos, Renee Wilson, Aayush Sarkar, Michael P. McDermott, Roy N. Alcalay, Kevin Biglan, Daniel Kinel, Caroline Tanner, Reni Winter-Evans, Erika F. Augustine, Robert G. Holloway, E. Ray Dorsey, Ruth B. Schneider
- Open AccessPhenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral SclerosisMaurizio Grassano, Giorgia Brodini, Giovanni De Marco, Federico Casale, Giuseppe Fuda, Paolina Salamone, Maura Brunetti, Luca Sbaiz, Salvatore Gallone, Paolo Cugnasco, Alessandro Bombaci, Rosario Vasta, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Bryan J. Traynor, Adriano Chio
- Open AccessA Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project DataMichael E. Belloy, Yann Le Guen, Sarah J. Eger, Valerio Napolioni, Michael D. Greicius, Zihuai He
- Open AccessHigh Hereditary Transthyretin-Related Amyloidosis Prevalence in CreteGenetic Heterogeneity and Distinct PhenotypesMinas Tzagournissakis, Emmanouil Foukarakis, Dimitrios Samonakis, Miltiadis Tsilimbaris, Kleita Michaelidou, Lambros Mathioudakis, Anastasios Marinis, Emmanouil Giannakoudakis, Cleanthe Spanaki, Irene Skoula, Sofia Erimaki, Georgios Amoiridis, Georgios Koutsis, Sofia Koukouraki, Kostas Stylianou, Andreas Plaitakis, Panayiotis D. Mitsias, Ioannis Zaganas
- Open AccessGenetic Evidence for Protective Effects of Angiotensin-Converting Enzyme Against Alzheimer Disease But Not Other Neurodegenerative Diseases in European PopulationsDavid K. Ryan, Ville Karhunen, Bowen Su, Matthew Traylor, Tom G. Richardson, Stephen Burgess, Ioanna Tzoulaki, Dipender Gill
- Open AccessFrequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank ParticipantsAmy Christina Ferguson, Sophie Thrippleton, David Henshall, Ed Whittaker, Bryan Conway, Malcolm MacLeod, Rainer Malik, Konrad Rawlik, Albert Tenesa, Cathie Sudlow, Kristiina Rannikmae
- Open AccessClinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 RegionChristelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, Kyle J. Steinman, Sarah J. Spence, Melissa Ramocki, Elysa Jill Marco, LeeAnne Green Snyder, John E. Spiro, Wendy K. Chung, Poduri Annapurna, Elliott H. Sherr
- Open AccessAlanyl-tRNA Synthetase 1 Gene Variants in Hereditary NeuropathyGenotype and Phenotype OverviewSigne Setlere, Marija Jurcenko, Linda Gailite, Dmitrijs Rots, Viktorija Kenina
- Open AccessEfficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile EpilepsyJan H. Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G. Janzarik, Annick Klabunde-Cherwon, Gerhard Kluger, Hiltrud Muhle, Manuela Pendziwiat, Rikke S. Møller, Konrad Platzer, Joana Larupa Santos, Julian Schröter, Georg F. Hoffmann, Stefan Kölker, Steffen Syrbe
- Open AccessEffect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery StenosisA 15-Year Follow-up StudyShuhei Okazaki, Takeshi Yoshimoto, Mariko Ohara, Masatoshi Takagaki, Hajime Nakamura, Kotaro Watanabe, Yasufumi Gon, Kenichi Todo, Tsutomu Sasaki, Hiroyuki Araki, Tomomi Yamada, Shirou Manabe, Haruhiko Kishima, Masafumi Ihara, Hideki Mochizuki
- Open AccessLong-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 VariantKento Matoba, Norio Chihara, Wataru Satake, Hideki Tokuoka, Yoshihisa Otsuka, Takehiro Ueda, Kenji Sekiguchi, Masayuki Itoh, Riki Matsumoto
- Open AccessGenetic Testing for Malformations of Cortical DevelopmentA Clinical Diagnostic StudyBarbora Straka, Barbora Hermanovska, Lenka Krskova, Josef Zamecnik, Marketa Vlckova, Miroslava Balascakova, Pavel Tesner, Petr Jezdik, Michal Tichy, Martin Kyncl, Alena Musilova, Petra Lassuthova, Petr Marusic, Pavel Krsek
Clinical/Scientific Notes
- Open AccessA Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar AtaxiaFlavia Palombo, Chiara La Morgia, Claudio Fiorini, Leonardo Caporali, Maria Lucia Valentino, Vincenzo Donadio, Rocco Liguori, Valerio Carelli
- Open AccessFilamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease–like Vascular Formation Associated With RNF213 p.R4810K VariantYasuhito Ikeuchi, Jiro Kitayama, Noriyuki Sahara, Takuya Okata, Noriko Miyake, Naomichi Matsumoto, Takanari Kitazono, Tetsuro Ago
- Open AccessSevere Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating LeukodystrophyRoberta Solazzi, Marco Moscatelli, Davide Rossi Sebastiano, Laura Canafoglia, Laura Pezzoli, Maria Iascone, Tiziana Granata
- Open AccessBiallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure PalsyYasuko Kuroha, Takanobu Ishiguro, Mari Tada, Norikazu Hara, Kei Murayama, Izumi Kawachi, Kensaku Kasuga, Akinori Miyashita, Arika Hasegawa, Tetsuya Takahashi, Nae Matsubara, Osamu Onodera, Akiyoshi Kakita, Ryoko Koike, Takeshi Ikeuchi
Reviews
- Open AccessRFC1-Related DiseaseMolecular and Clinical InsightsKayli Davies, David J. Szmulewicz, Louise A. Corben, Martin Delatycki, Paul J. Lockhart
- Open AccessOverview of the Clinical Approach to Individuals With Cerebellar Ataxia and NeuropathyLeslie J. Roberts, Michael McVeigh, Linda Seiderer, Ian H. Harding, Louise A. Corben, Martin Delatycki, David J. Szmulewicz
NeuroImage
- Open Access3-Methylglutaconic Aciduria Type IA Rare Cause of Late-Onset LeukoencephalopathyChiara Benzoni, Stefania Magri, Marco Moscatelli, Silvia Fenu, Claudio Caccia, Franco Taroni, Ettore Salsano, Daniela Di Bella
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