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Adriana P Rebelo

Showing results (11-20 of 38) with videos related to

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Human Mutation|September 5, 2018
Insights into the genotype-phenotype correlation and molecular function of SLC25A46Alexander J Abrams, Flavia Fontanesi, Natalie B L Tan, et al.
Journal of Neurology|February 4, 2023
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth diseaseFeride Cinarli Yuksel, Paschalis Nicolaou, Kerri Spontarelli, et al.
Annals of Clinical and Translational Neurology|March 20, 2024
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autismMaike F Dohrn, Guney Bademci, Adriana P Rebelo, et al.
JCI Insight|April 4, 2023
Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiencyYi Zhu, Amanda G Lobato, Adriana P Rebelo, et al.
Brain : a Journal of Neurology|January 20, 2018
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiencyAdriana P Rebelo, Dimah Saade, Claudia V Pereira, et al.
Biorxiv : the Preprint Server for Biology|December 18, 2023
Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insightsAdriana P Rebelo, Clemer Abad, Maike F Dohrn, et al.
Neurology|May 9, 2014
Motor protein mutations cause a new form of hereditary spastic paraplegiaAndrés Caballero Oteyza, Esra Battaloğlu, Levent Ocek, et al.
Journal of the Neurological Sciences|June 5, 2021
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohortVivian Pedigone Cintra, Maike F Dohrn, Pedro José Tomaselli, et al.
Neurology|May 5, 2017
Novel mutations in <i>dystonin</i> provide clues to the pathomechanisms of HSAN-VIFiore Manganelli, Silvia Parisi, Maria Nolano, et al.
Brain : a Journal of Neurology|March 27, 2024
SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insightsAdriana P Rebelo, Clemer Abad, Maike F Dohrn, et al.
Pageof 4

Showing results (11-20 of 38) with videos related to

Sort By:
Pageof 4
Human Mutation|September 5, 2018
Insights into the genotype-phenotype correlation and molecular function of SLC25A46Alexander J Abrams, Flavia Fontanesi, Natalie B L Tan, et al.
Journal of Neurology|February 4, 2023
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth diseaseFeride Cinarli Yuksel, Paschalis Nicolaou, Kerri Spontarelli, et al.
Annals of Clinical and Translational Neurology|March 20, 2024
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autismMaike F Dohrn, Guney Bademci, Adriana P Rebelo, et al.
JCI Insight|April 4, 2023
Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiencyYi Zhu, Amanda G Lobato, Adriana P Rebelo, et al.
Brain : a Journal of Neurology|January 20, 2018
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiencyAdriana P Rebelo, Dimah Saade, Claudia V Pereira, et al.
Biorxiv : the Preprint Server for Biology|December 18, 2023
Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insightsAdriana P Rebelo, Clemer Abad, Maike F Dohrn, et al.
Neurology|May 9, 2014
Motor protein mutations cause a new form of hereditary spastic paraplegiaAndrés Caballero Oteyza, Esra Battaloğlu, Levent Ocek, et al.
Journal of the Neurological Sciences|June 5, 2021
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohortVivian Pedigone Cintra, Maike F Dohrn, Pedro José Tomaselli, et al.
Neurology|May 5, 2017
Novel mutations in <i>dystonin</i> provide clues to the pathomechanisms of HSAN-VIFiore Manganelli, Silvia Parisi, Maria Nolano, et al.
Brain : a Journal of Neurology|March 27, 2024
SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insightsAdriana P Rebelo, Clemer Abad, Maike F Dohrn, et al.
Pageof 4