Research Articles

• Open Access

  Increased Serum Levels of miR-125b and miR-132 in Fragile X SyndromeA Preliminary Study

  Rowena Rubim Couto, Francyne Kubaski, Marina Siebert, Têmis Maria Félix, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal

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  Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability

  Sheng Yi, Fei Chen, Zailong Qin, Shang Yi, Limei Huang, Leini Huang, Ying Feng, Hao Wei, Qi Yang, Qinle Zhang, Jingsi Luo

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  Relationships of APOE Genotypes With Small RNA and Protein Cargo of Brain Tissue Extracellular Vesicles From Patients With Late-Stage AD

  Yiyao 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

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  Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy

  Leslie Hotchkiss Hayes, Morgane Perdomini, Asli Aykanat, Casie A. Genetti, Heather L. Paterson, Belinda S. Cowling, Christian Freitag, Alan H. Beggs

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  Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis

  Andrea 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

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  Efficacy 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

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  Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain

  Raquel 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

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  Startle DiseaseAn Overlooked Symptom of CTNNB1-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects

  Vincent Bulot, Francis Ramond, François Mauguière, Laure Mazzola

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  Somatic Variants in SVIL in Cerebral Aneurysms

  Pui 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

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  Identification of Sex-Specific Genetic Variants Associated With Tau PET

  Xin Wang, Iris Broce, Kacie D. Deters, Chun Chieh Fan, Sarah Jane Banks

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  Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel DiseasesGenetic, Clinical, and Pathologic Findings From 3 Chinese Pedigrees

  Tingyan 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

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