Research Articles
- Open AccessPrevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem ProteinopathyAlyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis
- Open AccessToward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic ParaplegiaMatthias Amprosi, Elisabetta Indelicato, Andreas Eigentler, Josef Fritz, Wolfgang Nachbauer, Sylvia Boesch
- Open AccessNovel Homozygous Variant in COQ7 in Siblings With Hereditary Motor NeuropathyIan C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon
- Open AccessCopy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar AtaxiaFatemeh Ghorbani, Eddy N. de Boer, Marloes Benjamins-Stok, Corien C. Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J. de Vries, Birgit Sikkema-Raddatz, Dineke S. Verbeek, Helga Westers, Cleo C. van Diemen
- Open AccessHigh-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob DiseaseAlexander G. Murley, Yu Nie, Zoe Golder, Michael John Keogh, Colin Smith, James W. Ironside, Patrick F. Chinnery
- Open AccessNeuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer ContinuumJing Qian, Yiding Zhang, Rebecca A. Betensky, Bradley T. Hyman, Alberto Serrano-Pozo
- Open AccessExpanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar AtaxiaSean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou
- Open AccessClinical Manifestation of Nebulin-Associated Nemaline MyopathyCristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli
- Open AccessGenetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged AdultsJasmeet Pannu Hayes, Meghan E. Pierce, Emma Brown, David Salat, Mark W. Logue, Julie Constantinescu, Kate Valerio, Mark W. Miller, Richard Sherva, Bertrand Russell Huber, William Milberg, Regina McGlinchey
Clinical/Scientific Notes
- Open AccessNeurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated SyndromeA Case ReportPatra Yeetong, Natthaporn Tanpowpong, Supphakorn Rakwongkhachon, Kanya Suphapeetiporn, Vorasuk Shotelersuk
- Open AccessSevere Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1Yasufumi Kondo, Tsuneaki Yoshinaga, Katsuya Nakamura, Tomomi Yamaguchi, Masumi Ishikawa, Tomoki Kosho, Yoshiki Sekijima
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