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Jonathan Baets

Showing results (71-80 of 135) with videos related to

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Acta Neuropathologica|February 2, 2024
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patientsLaura Krumm, Tatyana Pozner, Naime Zagha, et al.
Brain : a Journal of Neurology|June 15, 2015
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathiesDana Safka Brozkova, Tine Deconinck, Laurie Beth Griffin, et al.
Human Mutation|December 14, 2017
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathyJamie A Abbott, Rebecca Meyer-Schuman, Vincenzo Lupo, et al.
Brain : a Journal of Neurology|June 9, 2009
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyKristl G Claeys, Stephan Züchner, Marina Kennerson, et al.
Neurobiology of Aging|January 11, 2017
Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patientsFederica Perrone, Hung Phuoc Nguyen, Sara Van Mossevelde, et al.
Neurology. Genetics|May 24, 2019
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in <i>BVES</i>Willem De Ridder, Isabelle Nelson, Bob Asselbergh, et al.
American Journal of Human Genetics|September 16, 2020
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi FragmentationNatalia Mendoza-Ferreira, Mert Karakaya, Nur Cengiz, et al.
Neurology. Genetics|March 28, 2018
Truncating <i>SLC5A7</i> mutations underlie a spectrum of dominant hereditary motor neuropathiesClaire G Salter, Danique Beijer, Holly Hardy, et al.
Brain Pathology (Zurich, Switzerland)|August 15, 2023
Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohortJuliane Bremer, Axel Meinhardt, Istvan Katona, et al.
Acta Neuropathologica|March 31, 2023
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTDPedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans, et al.
Pageof 14

Showing results (71-80 of 135) with videos related to

Sort By:
Pageof 14
Acta Neuropathologica|February 2, 2024
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patientsLaura Krumm, Tatyana Pozner, Naime Zagha, et al.
Brain : a Journal of Neurology|June 15, 2015
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathiesDana Safka Brozkova, Tine Deconinck, Laurie Beth Griffin, et al.
Human Mutation|December 14, 2017
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathyJamie A Abbott, Rebecca Meyer-Schuman, Vincenzo Lupo, et al.
Brain : a Journal of Neurology|June 9, 2009
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyKristl G Claeys, Stephan Züchner, Marina Kennerson, et al.
Neurobiology of Aging|January 11, 2017
Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patientsFederica Perrone, Hung Phuoc Nguyen, Sara Van Mossevelde, et al.
Neurology. Genetics|May 24, 2019
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in <i>BVES</i>Willem De Ridder, Isabelle Nelson, Bob Asselbergh, et al.
American Journal of Human Genetics|September 16, 2020
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi FragmentationNatalia Mendoza-Ferreira, Mert Karakaya, Nur Cengiz, et al.
Neurology. Genetics|March 28, 2018
Truncating <i>SLC5A7</i> mutations underlie a spectrum of dominant hereditary motor neuropathiesClaire G Salter, Danique Beijer, Holly Hardy, et al.
Brain Pathology (Zurich, Switzerland)|August 15, 2023
Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohortJuliane Bremer, Axel Meinhardt, Istvan Katona, et al.
Acta Neuropathologica|March 31, 2023
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTDPedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans, et al.
Pageof 14