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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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December 2022; 8 (6)

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The Helix

  • Open Access
    New Mission, New Reviews, New Word Counts, Oh My!
    Stefan M. Pulst
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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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  • Open Access
    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
    • Abstract
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  • Open Access
    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
    • Abstract
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  • Open Access
    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
    • Abstract
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  • Open Access
    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
    • Abstract
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  • Open Access
    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
    • Abstract
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  • Open Access
    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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  • Open Access
    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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  • Open Access
    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
    • Abstract
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  • Open Access
    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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  • Open Access
    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
    • Abstract
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Clinical/Scientific Notes

  • Open Access
    Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome
    Katherine Abell King, Daniel J. Wegner, Robert C. Bucelli, Jessica Shapiro, Alexander J. Paul, Patricia I. Dickson, Jennifer A. Wambach
    • Abstract
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  • Open Access
    Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy
    Avaneesh R. Kunta, Jeremy Jueng, Catherine Jordan, Jasna Kojic, Alisa Mo, Darius Ebrahimi-Fakhari
    • Abstract
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NeuroImages

  • Open Access
    Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy
    Laura Licchetta, Raffaella Minardi, Lorenzo Muccioli, Laura Ludovica Gramegna, David Neil Manners, Caterina Tonon, Francesca Bisulli, Paolo Tinuper
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Neurology Genetics: 8 (6)
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