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Showing results (861-870 of 898) with videos related to

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 10, 2026
European expert recommendations for comprehensive pre-treatment, treatment-phase and post-treatment care of patients with metachromatic leukodystrophy treated with autologous haematopoietic stem and progenitor cell gene therapyLucia Laugwitz, Francesca Fumagalli, Katharina Wehner, et al.
Annals of Clinical and Translational Neurology|December 10, 2019
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrumMarisa I Mendes, Lydia M C Green, Enrico Bertini, et al.
Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Nature Microbiology|November 6, 2025
An updated evolutionary classification of CRISPR-Cas systems including rare variantsKira S Makarova, Sergey A Shmakov, Yuri I Wolf, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|October 18, 2023
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)Lorenzo Nanetti, Mary Kearney, Sylvia Boesch, et al.
Annals of Clinical and Translational Neurology|July 1, 2015
Altered PLP1 splicing causes hypomyelination of early myelinating structuresSietske H Kevelam, Jennifer R Taube, Rosalina M L van Spaendonk, et al.
Neurology|June 27, 2025
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research DirectionsMarije A B C Asbreuk, Daphne H Schoenmakers, Laura Ann Adang, et al.
Epilepsia|September 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaJoseph D Symonds, Kristen L Park, Cyril Mignot, et al.
Standards in Genomic Sciences|August 5, 2017
High-quality genome sequence of the radioresistant bacterium <i>Deinococcus ficus</i> KS 0460Vera Y Matrosova, Elena K Gaidamakova, Kira S Makarova, et al.
American Journal of Human Genetics|August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.
Pageof 90

Showing results (861-870 of 898) with videos related to

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Pageof 90
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 10, 2026
European expert recommendations for comprehensive pre-treatment, treatment-phase and post-treatment care of patients with metachromatic leukodystrophy treated with autologous haematopoietic stem and progenitor cell gene therapyLucia Laugwitz, Francesca Fumagalli, Katharina Wehner, et al.
Annals of Clinical and Translational Neurology|December 10, 2019
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrumMarisa I Mendes, Lydia M C Green, Enrico Bertini, et al.
Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Nature Microbiology|November 6, 2025
An updated evolutionary classification of CRISPR-Cas systems including rare variantsKira S Makarova, Sergey A Shmakov, Yuri I Wolf, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|October 18, 2023
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)Lorenzo Nanetti, Mary Kearney, Sylvia Boesch, et al.
Annals of Clinical and Translational Neurology|July 1, 2015
Altered PLP1 splicing causes hypomyelination of early myelinating structuresSietske H Kevelam, Jennifer R Taube, Rosalina M L van Spaendonk, et al.
Neurology|June 27, 2025
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research DirectionsMarije A B C Asbreuk, Daphne H Schoenmakers, Laura Ann Adang, et al.
Epilepsia|September 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaJoseph D Symonds, Kristen L Park, Cyril Mignot, et al.
Standards in Genomic Sciences|August 5, 2017
High-quality genome sequence of the radioresistant bacterium <i>Deinococcus ficus</i> KS 0460Vera Y Matrosova, Elena K Gaidamakova, Kira S Makarova, et al.
American Journal of Human Genetics|August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.
Pageof 90