Showing results (541-550 of 872) with videos related to

Sort By:
Pageof 88
Neurology. Genetics|December 26, 2018
Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPHVille E Korhonen, Seppo Helisalmi, Aleksi Jokinen, et al.
Neurology. Genetics|December 28, 2018
Erratum: Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
Neurology. Genetics|January 15, 2019
Screening of novel restless legs syndrome-associated genes in French-Canadian familiesFulya Akçimen, Dan Spiegelman, Alexandre Dionne-Laporte, et al.
Neurology. Genetics|March 27, 2018
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegiaChristian G Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, et al.
Neurology. Genetics|April 6, 2026
Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9John Vissing, Tahseen Mozaffar, Nicholas E Johnson, et al.
Neurology. Genetics|March 25, 2026
Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1Maria Gabriela Tanase, Lina Djilani, Remy Lamontagne, et al.
Neurology. Genetics|March 27, 2026
Clinical Trial Designs for Rare Disorders: A Scoping Review of the Effectiveness of Pharmacologic Interventions in Fragile X SyndromeAdam Van Steenbergen, Manpreet Kaur, Keneizha Rubanarayana, et al.
Neurology. Genetics|June 3, 2026
HSD17B4-Related Disorder: Defining the Phenotype in Adult-Onset PatientsGrazia Maria Igea Falcone, Alessandra Tessa, Cristiano Rizzo, et al.
Neurology. Genetics|May 21, 2026
Ataxia With Vitamin E Deficiency Syndrome and a Novel TTPA Variant: A Paired Case ReportGiacomo Baso, Francesca Magri, Monica Sciacco, et al.
Neurology. Genetics|May 1, 2026
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency DisorderQuentin Sabbagh, Felipe Villa Tobón, Zahra Kazemi, et al.
Pageof 88