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Neurology. Genetics|December 17, 2025
Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA SequencingKohta Nakamura, Yoshihito Kishita, Ayumu Sugiura, et al.
Neurology. Genetics|December 1, 2025
SYNE1 Deficiency Manifesting Primarily With Motor Neuron DiseaseHenriette V F Senghor, Raúl Domínguez Rubio, Carla Marco, et al.
Neurology. Genetics|December 1, 2025
Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults: An Evolving LandscapeAyush Gupta, Dhwani Sahjwani, Ilana Kahn, et al.
Neurology. Genetics|April 30, 2024
ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by FeverChetan Immanneni, Daniel Calame, Song Jiao, et al.
Neurology. Genetics|April 30, 2024
RFC1 Repeat Distribution in the Cypriot Population: Study of a Large Cohort of Patients With Undiagnosed Ataxia and Non-Disease ControlsChristina Votsi, Marios Tomazou, Paschalis Nicolaou, et al.
Neurology. Genetics|April 29, 2024
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital AtaxiaIvana R Raslan, Thiago Yoshinaga Tonholo Silva, Fernando Kok, et al.
Neurology. Genetics|December 22, 2023
Case of Autosomal Dominant Alzheimer Disease With Negative Findings From PiB-PET ExaminationHao Sun, Yuanyuan Wang, Yanjiang Wang, et al.
Neurology. Genetics|December 22, 2023
Parkinson Disease Genetics Extended to African and Hispanic Ancestries in the VA Million Veteran ProgramNathan Pankratz, Benjamin R Cole, Kathleen M Beutel, et al.
Neurology. Genetics|January 5, 2024
Role of Rho-Associated Kinase in the Pathophysiology of Cerebral Cavernous MalformationsCenk Ayata, Helen Kim, Leslie Morrison, et al.
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