Research Articles

• Open Access

  A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson DiseaseBaseline Results

  Stella 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

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  Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis

  Maurizio 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

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  A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data

  Michael E. Belloy, Yann Le Guen, Sarah J. Eger, Valerio Napolioni, Michael D. Greicius, Zihuai He

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  High Hereditary Transthyretin-Related Amyloidosis Prevalence in CreteGenetic Heterogeneity and Distinct Phenotypes

  Minas 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

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  Genetic Evidence for Protective Effects of Angiotensin-Converting Enzyme Against Alzheimer Disease But Not Other Neurodegenerative Diseases in European Populations

  David K. Ryan, Ville Karhunen, Bowen Su, Matthew Traylor, Tom G. Richardson, Stephen Burgess, Ioanna Tzoulaki, Dipender Gill

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  Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants

  Amy Christina Ferguson, Sophie Thrippleton, David Henshall, Ed Whittaker, Bryan Conway, Malcolm MacLeod, Rainer Malik, Konrad Rawlik, Albert Tenesa, Cathie Sudlow, Kristiina Rannikmae

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  Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region

  Christelle 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

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  Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary NeuropathyGenotype and Phenotype Overview

  Signe Setlere, Marija Jurcenko, Linda Gailite, Dmitrijs Rots, Viktorija Kenina

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  Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy

  Jan 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

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  Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery StenosisA 15-Year Follow-up Study

  Shuhei 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

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  Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant

  Kento Matoba, Norio Chihara, Wataru Satake, Hideki Tokuoka, Yoshihisa Otsuka, Takehiro Ueda, Kenji Sekiguchi, Masayuki Itoh, Riki Matsumoto

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  Genetic Testing for Malformations of Cortical DevelopmentA Clinical Diagnostic Study

  Barbora 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

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