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Continuum (Minneapolis, Minn.)|April 2, 2026
Adult-Onset Leukodystrophies Mimicking Multiple SclerosisGabrielle Macaron, Roberta La PianaHandbook of Clinical Neurology|September 25, 2024
General approach to treatment of genetic leukoencephalopathies in children and adultsMaryam Sharifian-Dorche, Roberta La PianaNeurogenetics|January 9, 2015
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxiaKarine Choquet, Roberta La Piana, Bernard BraisAmerican Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 31, 2023
Spectrum of white matter abnormalities associated with FOXC1-related disorders in two unrelated casesTasnim Tabassum, D'Agostino Maria Daniela, Roberta La PianaJournal of Child Neurology|November 9, 2014
Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 GeneRoberta La Piana, Michel Vanasse, Bernard Brais, et al.The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|January 29, 2020
Neurological Involvement in Glycogen Storage Disease Type IXa due to PHKA2 MutationChelsea Smith, , Marie-Josée Dicaire, et al.The Journal of Neuropsychiatry and Clinical Neurosciences|May 6, 2021
Adult Hereditary White Matter Diseases With Psychiatric Presentation: Clinical Pointers and MRI Algorithm to Guide the Diagnostic ProcessCatalina Costei, Michaela Barbarosie, Geneviève Bernard, et al.The Neuroradiology Journal|October 26, 2017
Assessment of clot length with multiphase CT angiography in patients with acute ischemic strokeVanessa Polito, Roberta La Piana, Maria Del Pilar Cortes, et al.Faculty Reviews|March 4, 2021
POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?Benoit Coulombe, Alexa Derksen, Roberta La Piana, et al.Neurogenetics|July 12, 2014
A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroidsRoberta La Piana, Alina Webber, Marie-Christine Guiot, et al.Pageof 7