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Alejandro Horga

Showing results (21-30 of 39) with videos related to

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Neurology|July 11, 2014
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathyYo-Tsen Liu, Matilde Laurá, Joshua Hersheson, et al.
Neurology. Genetics|February 12, 2020
Expanding the molecular and phenotypic spectrum of truncating <i>MT-ATP6</i> mutationsEnrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 15, 2017
Genetic and clinical characteristics of <i>NEFL</i>-related Charcot-Marie-Tooth diseaseAlejandro Horga, Matilde Laurà, Zane Jaunmuktane, et al.
Neurology. Genetics|May 24, 2019
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathyAlejandro Horga, Enrico Bugiardini, Andreea Manole, et al.
Neurology|March 21, 2024
Expanding the Clinical Spectrum of <i>DRP2</i>-Associated Charcot-Marie-Tooth DiseaseRafael Sivera, Ana L Pelayo-Negro, Ivonne Jericó, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|December 19, 2014
Natalizumab-related anaphylactoid reactions in MS patients are associated with HLA class II allelesBelén de la Hera, Elena Urcelay, David Brassat, et al.
Human Genetics|November 2, 2019
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pairAlejandro Horga, Catherine E Woodward, Alberto Mills, et al.
American Journal of Human Genetics|April 5, 2016
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal NeuropathyAdriana P Rebelo, Alexander J Abrams, Ellen Cottenie, et al.
Molecular Biology Reports|March 20, 2021
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial diseaseAlejandro Horga, Andreea Manole, Alice L Mitchell, et al.
European Journal of Neurology|October 28, 2022
Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 RegistryChiara Pizzamiglio, Robert D S Pitceathly, Michael P Lunn, et al.
Pageof 4

Showing results (21-30 of 39) with videos related to

Sort By:
Pageof 4
Neurology|July 11, 2014
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathyYo-Tsen Liu, Matilde Laurá, Joshua Hersheson, et al.
Neurology. Genetics|February 12, 2020
Expanding the molecular and phenotypic spectrum of truncating <i>MT-ATP6</i> mutationsEnrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 15, 2017
Genetic and clinical characteristics of <i>NEFL</i>-related Charcot-Marie-Tooth diseaseAlejandro Horga, Matilde Laurà, Zane Jaunmuktane, et al.
Neurology. Genetics|May 24, 2019
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathyAlejandro Horga, Enrico Bugiardini, Andreea Manole, et al.
Neurology|March 21, 2024
Expanding the Clinical Spectrum of <i>DRP2</i>-Associated Charcot-Marie-Tooth DiseaseRafael Sivera, Ana L Pelayo-Negro, Ivonne Jericó, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|December 19, 2014
Natalizumab-related anaphylactoid reactions in MS patients are associated with HLA class II allelesBelén de la Hera, Elena Urcelay, David Brassat, et al.
Human Genetics|November 2, 2019
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pairAlejandro Horga, Catherine E Woodward, Alberto Mills, et al.
American Journal of Human Genetics|April 5, 2016
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal NeuropathyAdriana P Rebelo, Alexander J Abrams, Ellen Cottenie, et al.
Molecular Biology Reports|March 20, 2021
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial diseaseAlejandro Horga, Andreea Manole, Alice L Mitchell, et al.
European Journal of Neurology|October 28, 2022
Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 RegistryChiara Pizzamiglio, Robert D S Pitceathly, Michael P Lunn, et al.
Pageof 4