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Neurology. Genetics|December 13, 2021
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With DystoniaJoohyun Park, Annemarie Reilaender, Jan N Petry-Schmelzer, et al.
Neurology. Genetics|December 9, 2021
Pathogenic NOTCH3 Variants Are Frequent Among the Korean General PopulationChul-Hoo Kang, Young Mee Kim, Yang-Ji Kim, et al.
Neurology. Genetics|December 3, 2021
White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-TelangiectasiaMay Yung Tiet, Stefania Nannoni, Daniel Scoffings, et al.
Neurology. Genetics|October 31, 2022
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary StudyRowena Rubim Couto, Francyne Kubaski, Marina Siebert, et al.
Neurology. Genetics|November 3, 2022
Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis: A 15-Year Follow-up StudyShuhei Okazaki, Takeshi Yoshimoto, Mariko Ohara, et al.
Neurology. Genetics|October 24, 2022
Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual DisabilitySheng Yi, Fei Chen, Zailong Qin, et al.
Neurology. Genetics|September 14, 2022
Filamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease-like Vascular Formation Associated With RNF213 p.R4810K VariantYasuhito Ikeuchi, Jiro Kitayama, Noriyuki Sahara, et al.
Neurology. Genetics|September 1, 2022
Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating LeukodystrophyRoberta Solazzi, Marco Moscatelli, Davide Rossi Sebastiano, et al.
Neurology. Genetics|January 20, 2022
Clinical Deep Phenotyping of ABCA7 Mutation CarriersAlana S Campbell, Charlotte C G Ho, Merve Atık, et al.
Neurology. Genetics|February 24, 2022
Novel SLC9A6 Variation in Female Carriers With Intellectual Disability and Atypical ParkinsonismHaitian Nan, Yeon-Jeong Kim, Mai Tsuchiya, et al.
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