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Neurology. Genetics|August 28, 2026
The KCNT1-Related Epilepsy Study: Design and Methods of a Fully Decentralized Prospective Natural History Study in a Rare Neurologic DiseaseHeather R Adams, Viet Nguyen, Laurie Seltzer, et al.
Neurology. Genetics|March 8, 2019
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophyBruce Nmezi, Elisa Giorgio, Raili Raininko, et al.
Neurology. Genetics|August 13, 2019
Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathyAsfia Quadir, Carly Sabine Pontifex, Helen Lee Robertson, et al.
Neurology. Genetics|August 13, 2019
Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson diseaseJuan I Young, Sathesh K Sivasankaran, Lily Wang, et al.
Neurology. Genetics|August 13, 2019
Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case seriesMattias Andréasson, Kristina Lagerstedt-Robinson, Kristin Samuelsson, et al.
Neurology. Genetics|February 5, 2021
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, et al.
Neurology. Genetics|February 8, 2021
EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher DiseaseDaniel G Calame, Meagan Hainlen, Danielle Takacs, et al.
Neurology. Genetics|January 20, 2022
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral SclerosisMelissa Nel, Amokelani C Mahungu, Nomakhosazana Monnakgotla, et al.
Neurology. Genetics|February 7, 2022
Therapy Trial Design in Vanishing White Matter: An Expert Consortium OpinionMarjo S van der Knaap, Joshua L Bonkowsky, Adeline Vanderver, et al.
Neurology. Genetics|March 17, 2022
ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat ExpansionHannu Laaksovirta, Jyrki Launes, Lilja Jansson, et al.
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