Latest Articles

Subject

Article
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
Lea Leonardis, Marusa Skrjanec Pusenjak, Ales Maver, et al.

March 01, 2022
Correction
Migraine, Stroke, and Cervical Arterial DissectionShared Genetics for a Triad of Brain Disorders With Vascular Involvement
February 21, 2022
Clinical/Scientific Note
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
Yu-Lan Chen, Dian-Fu Chen, Hua-Zhen Ke, et al.

February 17, 2022
Views & Reviews
Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, et al.

February 02, 2022
Article
Migraine, Stroke, and Cervical Arterial DissectionShared Genetics for a Triad of Brain Disorders With Vascular Involvement
Iyas Daghlas, Muralidharan Sargurupremraj, Rebecca Danning, et al.

February 01, 2022
Article
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy
Mark F. Bennett, Michael S. Hildebrand, Sayaka Kayumi, et al.

January 25, 2022
Article
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation
Sebastian Montealegre, Elise Lebigot, Hugo Debruge, et al.

January 19, 2022
Article
Novel SLC9A6 Variation in Female Carriers With Intellectual Disability and Atypical Parkinsonism
Haitian Nan, Yeon-Jeong Kim, Mai Tsuchiya, et al.

January 18, 2022
Article
Clinical Deep Phenotyping of ABCA7 Mutation Carriers
Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, et al.

January 13, 2022
Correction
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
January 13, 2022

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