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Research Article
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction
Jodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, et al.

September 19, 2023
Clinical/Scientific Note
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants
Kotaro Noda, Yorito Hattori, Mika Hori, et al.

September 05, 2023
Clinical/Scientific Note
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
Luiz Eduardo Novis, Rodrigo S. Frezatti, David Pellerin, et al.

August 28, 2023
Clinical/Scientific Note
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 MutationA Case Report
Netta Agajany, Liran Horev, Netanel Agajany, et al.

August 28, 2023
Research Article
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy
Marianela Schiava, Chiseko Ikenaga, Ana Topf, et al.

August 15, 2023
Research Article
Genome-wide Analysis of Motor Progression in Parkinson Disease
Alejandro Martínez Carrasco, Raquel Real, Michael Lawton, et al.

August 08, 2023
Clinical/Scientific Note
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A
Andrew B. Stergachis, Elizabeth E. Blue, Madelyn A. Gillentine, et al.

August 08, 2023
Research Article
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data ApproachApplication to CADASIL
Henri Chhoa, Hugues Chabriat, Adelina Joanita Anato, et al.

August 03, 2023
Research Article
Genomic Diagnoses for Ectopic Intracerebral Calcifications
Changrui Xiao, Thomas Cassini, Daniel Benavides, et al.

August 02, 2023
Correction
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies
July 26, 2023

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