The Helix
Research Articles
- Open AccessIncreased Serum Levels of miR-125b and miR-132 in Fragile X SyndromeA Preliminary StudyRowena Rubim Couto, Francyne Kubaski, Marina Siebert, Têmis Maria Félix, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal
- Open AccessNovel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual DisabilitySheng Yi, Fei Chen, Zailong Qin, Shang Yi, Limei Huang, Leini Huang, Ying Feng, Hao Wei, Qi Yang, Qinle Zhang, Jingsi Luo
- Open AccessRelationships of APOE Genotypes With Small RNA and Protein Cargo of Brain Tissue Extracellular Vesicles From Patients With Late-Stage ADYiyao Huang, Tom A.P. Driedonks, Lesley Cheng, Harinda Rajapaksha, Andrey Turchinovich, David A. Routenberg, Rajini Nagaraj, Javier Redding-Ochoa, Tanina Arab, Bonita H. Powell, Olga Pletnikova, Juan C. Troncoso, Lei Zheng, Andrew F. Hill, Vasiliki Mahairaki, Kenneth W. Witwer
- Open AccessPhenotypic Spectrum of DNM2-Related Centronuclear MyopathyLeslie Hotchkiss Hayes, Morgane Perdomini, Asli Aykanat, Casie A. Genetti, Heather L. Paterson, Belinda S. Cowling, Christian Freitag, Alan H. Beggs
- Open AccessClinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral SclerosisAndrea Calvo, Antonio Canosa, Cristina Moglia, Umberto Manera, Maurizio Grassano, Rosario Vasta, Francesca Palumbo, Paolo Cugnasco, Salvatore Gallone, Maura Brunetti, Fabiola De Marchi, Vincenzo Arena, Marco Pagani, Clifton Dalgard, Sonja W. Scholz, Ruth Chia, Lucia Corrado, Sandra Dalfonso, Letizia Mazzini, Bryan J. Traynor, Adriano Chio
- Open AccessEfficacy and Safety of Leriglitazone in Patients With Friedreich AtaxiaA Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES)Massimo Pandolfo, Kathrin Reetz, Alejandra Darling, Francisco Javier Rodriguez de Rivera, Pierre-Gilles Henry, James Joers, Christophe Lenglet, Isaac Adanyeguh, Dinesh Deelchand, Fanny Mochel, Françoise Pousset, Sílvia Pascual, Delphine Van den Eede, Itziar Martin-Ugarte, Anna Vilà-Brau, Adriana Mantilla, María Pascual, Marc Martinell, Uwe Meya, Alexandra Durr
- Open AccessDiagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern SpainRaquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez-Costa, Carlos Morata-Martínez, Marina Campins-Romeu, Nuria Muelas, Isabel Sastre-Bataller, Irene Martínez-Torres, Julia Pérez-García, Rafael Sivera, Teresa Sevilla, Juan J. Vilchez, Teresa Jaijo, Carmen Espinós, Jose M. Millán, Luis Bataller, Elena Aller
- Open AccessStartle DiseaseAn Overlooked Symptom of CTNNB1-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual DefectsVincent Bulot, Francis Ramond, François Mauguière, Laure Mazzola
- Open AccessSomatic Variants in SVIL in Cerebral AneurysmsPui Man Rosalind Lai, Jee-Yeon Ryu, Sang-Cheol Park, Bradley A. Gross, Lawrence D. Dickinson, Sarajune Dagen, Mohammad Ali Aziz-Sultan, Alan S. Boulos, Daniel L. Barrow, H. Hunt Batjer, Spiros Blackburn, Edward F. Chang, P. Roc Chen, Geoffrey P. Colby, Garth Rees Cosgrove, Carlos A. David, Arthur L. Day, Kai U. Frerichs, Mika Niemela, Steven G. Ojemann, Nirav J. Patel, Xiangen Shi, Edison P. Valle-Giler, Anthony C. Wang, Babu G. Welch, Edie E. Zusman, Scott T. Weiss, Rose Du
- Open AccessIdentification of Sex-Specific Genetic Variants Associated With Tau PETXin Wang, Iris Broce, Kacie D. Deters, Chun Chieh Fan, Sarah Jane Banks
- Open AccessHeterozygous HTRA1 Mutations Cause Cerebral Small Vessel DiseasesGenetic, Clinical, and Pathologic Findings From 3 Chinese PedigreesTingyan Yao, Junge Zhu, Xiao Wu, Xuying Li, Yongjuan Fu, Yuan Wang, Zhanjun Wang, Fanci Xu, Hong Lai, Aini He, Lianghong Teng, Chaodong Wang, Haiqing Song
Clinical/Scientific Notes
- Open AccessWhole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS SyndromeKatherine Abell King, Daniel J. Wegner, Robert C. Bucelli, Jessica Shapiro, Alexander J. Paul, Patricia I. Dickson, Jennifer A. Wambach
- Open AccessBlended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental IsodisomyAvaneesh R. Kunta, Jeremy Jueng, Catherine Jordan, Jasna Kojic, Alisa Mo, Darius Ebrahimi-Fakhari
NeuroImages
- Open AccessComplete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic EncephalopathyLaura Licchetta, Raffaella Minardi, Lorenzo Muccioli, Laura Ludovica Gramegna, David Neil Manners, Caterina Tonon, Francesca Bisulli, Paolo Tinuper
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