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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.
Neurology. Genetics|November 7, 2024
Early Peripheral Nerve Involvement at the Time of Coughing in Patients With RFC1 Intronic ExpansionSimon Frachet, Pauline Chazelas, Laurent Magy, et al.
Neurology. Genetics|November 6, 2024
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common VariantsAyumi Nishiyama, Tetsuya Niihori, Naoki Suzuki, et al.
Neurology. Genetics|September 11, 2024
Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk: A Case Report and Literature ReviewSatoshi Saito, Satoshi Hosoki, Eriko Yamaguchi, et al.
Neurology. Genetics|February 28, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity AssaySilvestre Cuinat, Paul Rollier, Katheryn Grand, et al.
Neurology. Genetics|February 28, 2025
Association of DMD Gene Variant Classes With Motor Outcomes in a Drug Registration Clinical Trial SettingYuan Fang, Utkarsh J Dang, Katherine I Illei, et al.
Neurology. Genetics|February 25, 2025
The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic ResourcesAllison A Dilliott, Maria C Costanzo, Sara Bandres-Ciga, et al.
Neurology. Genetics|August 12, 2024
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental DisorderMichael S Hildebrand, Ruth O Braden, Mariana L Lauretta, et al.
Neurology. Genetics|January 23, 2023
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob DiseaseAlexander G Murley, Yu Nie, Zoe Golder, et al.
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