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Alexander M Rossor

Showing results (81-90 of 97) with videos related to

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Annals of Neurology|April 13, 2024
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1ACarolynne M Doherty, Paige Howard, Luke F O'Donnell, et al.
Brain : a Journal of Neurology|June 12, 2015
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyAlexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Brain : a Journal of Neurology|December 16, 2014
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Alexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Brain : a Journal of Neurology|March 24, 2017
Clinical and genetic characterization of leukoencephalopathies in adultsDavid S Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, et al.
Brain : a Journal of Neurology|June 7, 2023
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variantsChristopher J Record, Mariola Skorupinska, Matilde Laura, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 6, 2023
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease SpectrumIlaria Quartesan, Elisa Vegezzi, Riccardo Currò, 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|January 8, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre studyMenelaos Pipis, Shawna M E Feely, James M Polke, et al.
Brain : a Journal of Neurology|May 10, 2021
RFC1 expansions are a common cause of idiopathic sensory neuropathyRiccardo Currò, Alessandro Salvalaggio, Stefano Tozza, et al.
Neurology|January 23, 2015
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophyMariacristina Scoto, Alexander M Rossor, Matthew B Harms, et al.
Pageof 10

Showing results (81-90 of 97) with videos related to

Sort By:
Pageof 10
Annals of Neurology|April 13, 2024
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1ACarolynne M Doherty, Paige Howard, Luke F O'Donnell, et al.
Brain : a Journal of Neurology|June 12, 2015
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyAlexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Brain : a Journal of Neurology|December 16, 2014
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Alexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Brain : a Journal of Neurology|March 24, 2017
Clinical and genetic characterization of leukoencephalopathies in adultsDavid S Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, et al.
Brain : a Journal of Neurology|June 7, 2023
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variantsChristopher J Record, Mariola Skorupinska, Matilde Laura, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 6, 2023
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease SpectrumIlaria Quartesan, Elisa Vegezzi, Riccardo Currò, 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|January 8, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre studyMenelaos Pipis, Shawna M E Feely, James M Polke, et al.
Brain : a Journal of Neurology|May 10, 2021
RFC1 expansions are a common cause of idiopathic sensory neuropathyRiccardo Currò, Alessandro Salvalaggio, Stefano Tozza, et al.
Neurology|January 23, 2015
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophyMariacristina Scoto, Alexander M Rossor, Matthew B Harms, et al.
Pageof 10