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Neurology. Genetics|January 15, 2025
SLC9A6-Linked Parkinson Syndrome in Female Heterozygotes Is Associated With PET-Detectable Tau PathologyYasuharu Yamamoto, Keisuke Takahata, Morinobu Seki, et al.
Neurology. Genetics|January 7, 2025
A Longitudinal Exploration of CACNA1A-Related Hemiplegic Migraine in Children Using Electronic Medical RecordsDonna Schaare, Laina Lusk, Alexis Karlin, et al.
Neurology. Genetics|April 7, 2025
RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2AGuangyu Wang, Haoyang Liu, Guiguan Yang, et al.
Neurology. Genetics|March 5, 2025
Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa RegionsMehri Salari, Fatemeh Hojjatipour, Masoud Etemadifar, et al.
Neurology. Genetics|November 29, 2024
Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant: A Case ReportTobias Bachmann, Helene Faust, Rami Abou Jamra, et al.
Neurology. Genetics|November 27, 2024
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10 Biosynthesis DisordersAzizia Wahedi, Sniya Sudhakar, Amanda Lam, et al.
Neurology. Genetics|December 16, 2024
Shared Genetics of Migraine and Gastrointestinal Disorders Implicates Underlying Neurologic Mechanisms Yet Heterogeneous EtiologiesDaniel I Chasman, Yanjun Guo, Andrew T Chan, et al.
Neurology. Genetics|September 16, 2024
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1Sarah E Robinson, Andrew R Findlay, Shan Li, et al.
Neurology. Genetics|September 16, 2024
Global Presence and Penetrance of CSF1R-Related DisorderJaroslaw Dulski, Matthew Baker, Samantha A Banks, et al.
Neurology. Genetics|October 18, 2024
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib: A Case ReportSamantha A Banks, Jithma P Abeykoon, Karen Rech, et al.
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