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Stephanie Efthymiou

Showing results (51-60 of 176) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|February 3, 2018
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary choreaVincenzo Salpietro, Belen Perez-Dueñas, Kosuke Nakashima, et al.
Human Mutation|November 12, 2017
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and functionVincenzo Salpietro, Stephanie Efthymiou, Andreea Manole, et al.
European Journal of Human Genetics : EJHG|February 20, 2024
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowthFrederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, et al.
European Journal of Human Genetics : EJHG|June 24, 2021
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric featuresMaha S Zaki, Andrea Accogli, Ghayda Mirzaa, et al.
American Journal of Human Genetics|June 3, 2017
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and HypomyelinationViorica Chelban, Nisha Patel, Jana Vandrovcova, et al.
Annals of Clinical and Translational Neurology|August 9, 2023
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202AsnStephanie Efthymiou, Luiz E Novis, Georgios Koutsis, et al.
Genes|July 29, 2023
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar DisordersSaadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, et al.
Cell Reports|January 9, 2025
Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAsKejia Zhang, Aidan C Manning, Jenna M Lentini, et al.
Genes|December 23, 2023
NUP85 as a Neurodevelopmental Gene: From Podocyte to NeuronAntonella Gambadauro, Giuseppe Donato Mangano, Karol Galletta, et al.
Journal of Molecular Medicine (Berlin, Germany)|September 18, 2021
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotypeLuisa Averdunk, Heinrich Sticht, Harald Surowy, et al.
Pageof 18

Showing results (51-60 of 176) with videos related to

Sort By:
Pageof 18
Movement Disorders : Official Journal of the Movement Disorder Society|February 3, 2018
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary choreaVincenzo Salpietro, Belen Perez-Dueñas, Kosuke Nakashima, et al.
Human Mutation|November 12, 2017
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and functionVincenzo Salpietro, Stephanie Efthymiou, Andreea Manole, et al.
European Journal of Human Genetics : EJHG|February 20, 2024
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowthFrederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, et al.
European Journal of Human Genetics : EJHG|June 24, 2021
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric featuresMaha S Zaki, Andrea Accogli, Ghayda Mirzaa, et al.
American Journal of Human Genetics|June 3, 2017
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and HypomyelinationViorica Chelban, Nisha Patel, Jana Vandrovcova, et al.
Annals of Clinical and Translational Neurology|August 9, 2023
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202AsnStephanie Efthymiou, Luiz E Novis, Georgios Koutsis, et al.
Genes|July 29, 2023
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar DisordersSaadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, et al.
Cell Reports|January 9, 2025
Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAsKejia Zhang, Aidan C Manning, Jenna M Lentini, et al.
Genes|December 23, 2023
NUP85 as a Neurodevelopmental Gene: From Podocyte to NeuronAntonella Gambadauro, Giuseppe Donato Mangano, Karol Galletta, et al.
Journal of Molecular Medicine (Berlin, Germany)|September 18, 2021
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotypeLuisa Averdunk, Heinrich Sticht, Harald Surowy, et al.
Pageof 18