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David S Lynch

Showing results (31-40 of 53) with videos related to

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Frontiers in Neurology|July 13, 2018
The Diagnostic Value of MRI Pattern Recognition in Distal MyopathiesEnrico Bugiardini, Jasper M Morrow, Sachit Shah, et al.
Journal of Neurology|July 29, 2022
A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)Sanjay Budhdeo, Anderson Rodrigues Brandão de Paiva, Charles Wade, et al.
Cold Spring Harbor Molecular Case Studies|September 30, 2022
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegiaFernando Freua, Mariana Espíndola de Castro Almeida, Paulo Ribeiro Nóbrega, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 4, 2015
Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy seriesDavid S Lynch, Zane Jaunmuktane, Una-Marie Sheerin, et al.
Frontiers in Neurology|February 21, 2022
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic DevelopmentSpyros Papapetropoulos, Angela Pontius, Elizabeth Finger, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 24, 2018
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathyEmer O'Connor, Jana Vandrovcova, Enrico Bugiardini, et al.
Neurology. Genetics|January 31, 2019
<i>PUS3</i> mutations are associated with intellectual disability, leukoencephalopathy, and nephropathyAnderson Rodrigues Brandão de Paiva, David S Lynch, Uirá Souto Melo, et al.
Clinical Genetics|August 5, 2024
Clinicogenetic characterization of cerebrotendinous xanthomatosis in BrazilHelena Fussiger, Pedro Lucas G S B Lima, Paulo V S Souza, et al.
American Journal of Human Genetics|June 3, 2017
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and HypomyelinationViorica Chelban, Nisha Patel, Jana Vandrovcova, et al.
Ejhaem|July 18, 2022
Pembrolizumab for the treatment of progressive multifocal leukoencephalopathy following anti-CD19 CAR-T therapy: a case reportStrachan Mackenzie, Manar Shafat, Harriet Roddy, et al.
Pageof 6

Showing results (31-40 of 53) with videos related to

Sort By:
Pageof 6
Frontiers in Neurology|July 13, 2018
The Diagnostic Value of MRI Pattern Recognition in Distal MyopathiesEnrico Bugiardini, Jasper M Morrow, Sachit Shah, et al.
Journal of Neurology|July 29, 2022
A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)Sanjay Budhdeo, Anderson Rodrigues Brandão de Paiva, Charles Wade, et al.
Cold Spring Harbor Molecular Case Studies|September 30, 2022
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegiaFernando Freua, Mariana Espíndola de Castro Almeida, Paulo Ribeiro Nóbrega, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 4, 2015
Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy seriesDavid S Lynch, Zane Jaunmuktane, Una-Marie Sheerin, et al.
Frontiers in Neurology|February 21, 2022
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic DevelopmentSpyros Papapetropoulos, Angela Pontius, Elizabeth Finger, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 24, 2018
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathyEmer O'Connor, Jana Vandrovcova, Enrico Bugiardini, et al.
Neurology. Genetics|January 31, 2019
<i>PUS3</i> mutations are associated with intellectual disability, leukoencephalopathy, and nephropathyAnderson Rodrigues Brandão de Paiva, David S Lynch, Uirá Souto Melo, et al.
Clinical Genetics|August 5, 2024
Clinicogenetic characterization of cerebrotendinous xanthomatosis in BrazilHelena Fussiger, Pedro Lucas G S B Lima, Paulo V S Souza, et al.
American Journal of Human Genetics|June 3, 2017
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and HypomyelinationViorica Chelban, Nisha Patel, Jana Vandrovcova, et al.
Ejhaem|July 18, 2022
Pembrolizumab for the treatment of progressive multifocal leukoencephalopathy following anti-CD19 CAR-T therapy: a case reportStrachan Mackenzie, Manar Shafat, Harriet Roddy, et al.
Pageof 6