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Neurology. Genetics|December 17, 2025
DEGS1-Related Hypomyelinating Leukodystrophy: Four Individuals From Same Family and Review of LiteratureMark Grinberg, Breanne Dale, Rajesh Ramachandrannair, et al.
Neurology. Genetics|December 22, 2025
Expanding the Molecular and Pathologic Spectrum of HSPB8 Myopathy and Distal Motor NeuropathyBrendan Nicholas Putko, Eric J Sorenson, Gaofeng Cui, et al.
Neurology. Genetics|October 30, 2025
Frameshift and Copy Number Variants in SACS-Related NeuropathyJun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, et al.
Neurology. Genetics|November 3, 2025
Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial ReadinessMeredith K James, Megan A Iammarino, Natalie F Reash, et al.
Neurology. Genetics|July 7, 2025
Erratum: Whole Genome Variable Number Tandem Repeat Analysis in Alzheimer DiseaseAlesha Heath, M Windy McNerney, Jerome Yesavage
Neurology. Genetics|July 15, 2025
The Association Between Sleep Phenotypes and Epilepsy GenesJonathan Read Gaillard, Gita Gupta, Heather C Mefford, et al.
Neurology. Genetics|September 25, 2025
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind SpotCarlos A Dominguez Gonzalez, Katrina M Bell, Ramakrishnan Rajagopalan, et al.
Neurology. Genetics|July 24, 2025
Executive Function Deficits in Genetic Frontotemporal Dementia: Results From the GENFI StudyLucy Louise Russell, Arabella Bouzigues, Rhian S Convery, et al.
Neurology. Genetics|July 18, 2025
Mosaic Ring 20 Syndrome: A Meta-AnalysisSarah Woodson, William D James, Rudolf Roth, et al.
Neurology. Genetics|October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical PhenotypesPasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
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