Most read article(s)

Clinical/Scientific Notes
Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing
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Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease
Zachary F. Gerring, Eric R. Gamazon, Anthony White, et al.

September 13, 2021
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Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
Jennifer M. Bain, Olivia Thornburg, Cheryl Pan, et al.

January 29, 2021
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AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, et al.

January 24, 2018
Research Article
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, et al.

October 26, 2022
Article
GNAO1 encephalopathyBroadening the phenotype and evaluating treatment and outcome
Federica Rachele Danti, Serena Galosi, Marta Romani, et al.

March 21, 2017
Research Article
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy
Jan H. Döring, Afshin Saffari, Thomas Bast, et al.

September 28, 2022
Research Article
Epilepsy Course and Developmental Trajectories in STXBP1-DEE
Ganna Balagura, Julie Xian, Antonella Riva, et al.

May 31, 2022
Views & Reviews
Redefining the phenotype of ALSP and AARS2 mutation–related leukodystrophy
Rahul Lakshmanan, Matthew E. Adams, David S. Lynch, et al.

February 15, 2017
Research Article
Genetic Testing for Malformations of Cortical DevelopmentA Clinical Diagnostic Study
Barbora Straka, Barbora Hermanovska, Lenka Krskova, et al.

September 27, 2022

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