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P Rebelo

Showing results (51-60 of 64) with videos related to

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Brain : a Journal of Neurology|April 23, 2021
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxiaAdriana P Rebelo, Ilse Eidhof, Vivian P Cintra, 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.
Journal of the Peripheral Nervous System : JPNS|April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1AIsaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
The Journal of Clinical Investigation|January 11, 2012
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12Gladys Montenegro, Adriana P Rebelo, James Connell, et al.
Brain : a Journal of Neurology|May 12, 2023
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signsAdriana P Rebelo, Pedro J Tomaselli, Jessica Medina, et al.
Annals of Neurology|February 2, 2019
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1AFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
Journal of Neuromuscular Diseases|April 9, 2019
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association StudyFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 7, 2026
Spectrum of dominant Charcot-Marie-Tooth disease due to <i>SLC12A6</i> variantsChristopher J Record, Tiffany Grider, Adriana P Rebelo, et al.
American Journal of Human Genetics|March 3, 2018
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2Petra Lassuthova, Adriana P Rebelo, Gianina Ravenscroft, et al.
Experimental Neurology|October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomicsMatt C Danzi, Eric Powell, Adriana P Rebelo, et al.
Pageof 7

Showing results (51-60 of 64) with videos related to

Sort By:
Pageof 7
Brain : a Journal of Neurology|April 23, 2021
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxiaAdriana P Rebelo, Ilse Eidhof, Vivian P Cintra, 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.
Journal of the Peripheral Nervous System : JPNS|April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1AIsaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
The Journal of Clinical Investigation|January 11, 2012
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12Gladys Montenegro, Adriana P Rebelo, James Connell, et al.
Brain : a Journal of Neurology|May 12, 2023
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signsAdriana P Rebelo, Pedro J Tomaselli, Jessica Medina, et al.
Annals of Neurology|February 2, 2019
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1AFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
Journal of Neuromuscular Diseases|April 9, 2019
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association StudyFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 7, 2026
Spectrum of dominant Charcot-Marie-Tooth disease due to <i>SLC12A6</i> variantsChristopher J Record, Tiffany Grider, Adriana P Rebelo, et al.
American Journal of Human Genetics|March 3, 2018
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2Petra Lassuthova, Adriana P Rebelo, Gianina Ravenscroft, et al.
Experimental Neurology|October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomicsMatt C Danzi, Eric Powell, Adriana P Rebelo, et al.
Pageof 7