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Movement Disorders : Official Journal of the Movement Disorder Society|January 12, 2024
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia GenesMirja Thomsen, Katrin Marth, Sebastian Loens, et al.
NPJ Precision Oncology|October 20, 2023
Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patientsMichael Menzel, Stephan Ossowski, Sebastian Kral, et al.
American Journal of Human Genetics|July 25, 2020
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaRalf A Husain, Mona Grimmel, Matias Wagner, et al.
American Journal of Human Genetics|January 3, 2025
EEFSEC deficiency: A selenopathy with early-onset neurodegenerationLucia Laugwitz, Rebecca Buchert, Patricio Olguín, et al.
Frontiers in Neurology|September 3, 2021
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic CohortTatiana Usnich, Eva-Juliane Vollstedt, Nathalie Schell, et al.
The Lancet. Neurology|September 18, 2015
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort studyHeike Jacobi, Sophie Tezenas du Montcel, Peter Bauer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 19, 2019
Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar AtaxiaAlhassane Diallo, Heike Jacobi, Arron Cook, et al.
Brain : a Journal of Neurology|March 25, 2024
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityReza Maroofian, Payam Sarraf, Thomas J O'Brien, et al.
Brain : a Journal of Neurology|October 8, 2025
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defectsSaikat Ghosh, Jaskaran Singh, Nadirah S Damseh, et al.
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