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Ben Distel

Showing results (41-50 of 48) with videos related to

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Nature Communications|August 29, 2025
UBE3A promotes foam cell formation and counters remyelination by targeting ABCA1 for proteasomal degradationMelanie Loix, Sam Vanherle, Laura Bolkaerts, et al.
Journal of Neurodevelopmental Disorders|March 7, 2026
Crossing the finish line towards a disease-modifying treatment for Angelman syndromeMatthew C Judson, Luis Pereira de Almeida, Rebecca D Burdine, et al.
Cell Reports. Medicine|September 1, 2021
Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiologyNikhil J Pandya, Congwei Wang, Veronica Costa, et al.
Nature Neuroscience|June 26, 2019
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndromeRossella Avagliano Trezza, Monica Sonzogni, Stijn N V Bossuyt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2024
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorderFrançois Lecoquierre, A Mattijs Punt, Frédéric Ebstein, et al.
Molecular Psychiatry|January 6, 2018
Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophreniaFemke M de Vrij, Christian G Bouwkamp, Nilhan Gunhanlar, et al.
Human Mutation|February 10, 2021
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical developmentGeeske M van Woerden, Melanie Bos, Charlotte de Konink, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
Pageof 5

Showing results (41-50 of 48) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 48 results.
Nature Communications|August 29, 2025
UBE3A promotes foam cell formation and counters remyelination by targeting ABCA1 for proteasomal degradationMelanie Loix, Sam Vanherle, Laura Bolkaerts, et al.
Journal of Neurodevelopmental Disorders|March 7, 2026
Crossing the finish line towards a disease-modifying treatment for Angelman syndromeMatthew C Judson, Luis Pereira de Almeida, Rebecca D Burdine, et al.
Cell Reports. Medicine|September 1, 2021
Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiologyNikhil J Pandya, Congwei Wang, Veronica Costa, et al.
Nature Neuroscience|June 26, 2019
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndromeRossella Avagliano Trezza, Monica Sonzogni, Stijn N V Bossuyt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2024
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorderFrançois Lecoquierre, A Mattijs Punt, Frédéric Ebstein, et al.
Molecular Psychiatry|January 6, 2018
Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophreniaFemke M de Vrij, Christian G Bouwkamp, Nilhan Gunhanlar, et al.
Human Mutation|February 10, 2021
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical developmentGeeske M van Woerden, Melanie Bos, Charlotte de Konink, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
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