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Andreea Manole

Showing results (21-30 of 36) with videos related to

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EMBO Molecular Medicine|July 18, 2018
LETM1 couples mitochondrial DNA metabolism and nutrient preferenceRomina Durigon, Alice L Mitchell, Aleck We Jones, et al.
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.
Annals of Neurology|March 3, 2017
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndromeVincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, et al.
Neurology. Genetics|May 24, 2019
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathyAlejandro Horga, Enrico Bugiardini, Andreea Manole, et al.
Human Genetics|November 2, 2019
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pairAlejandro Horga, Catherine E Woodward, Alberto Mills, et al.
Cell Reports|December 1, 2023
NGLY1 mutations cause protein aggregation in human neuronsAndreea Manole, Thomas Wong, Amanda Rhee, et al.
Molecular Biology Reports|March 20, 2021
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial diseaseAlejandro Horga, Andreea Manole, Alice L Mitchell, et al.
Neurology. Genetics|May 17, 2017
Clinicopathologic and molecular spectrum of <i>RNASEH1</i>-related mitochondrial diseaseEnrico Bugiardini, Olivia V Poole, Andreea Manole, et al.
Brain : a Journal of Neurology|May 25, 2016
Genetic and phenotypic characterization of complex hereditary spastic paraplegiaEleanna Kara, Arianna Tucci, Claudia Manzoni, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
EMBO Molecular Medicine|July 18, 2018
LETM1 couples mitochondrial DNA metabolism and nutrient preferenceRomina Durigon, Alice L Mitchell, Aleck We Jones, et al.
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.
Annals of Neurology|March 3, 2017
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndromeVincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, et al.
Neurology. Genetics|May 24, 2019
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathyAlejandro Horga, Enrico Bugiardini, Andreea Manole, et al.
Human Genetics|November 2, 2019
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pairAlejandro Horga, Catherine E Woodward, Alberto Mills, et al.
Cell Reports|December 1, 2023
NGLY1 mutations cause protein aggregation in human neuronsAndreea Manole, Thomas Wong, Amanda Rhee, et al.
Molecular Biology Reports|March 20, 2021
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial diseaseAlejandro Horga, Andreea Manole, Alice L Mitchell, et al.
Neurology. Genetics|May 17, 2017
Clinicopathologic and molecular spectrum of <i>RNASEH1</i>-related mitochondrial diseaseEnrico Bugiardini, Olivia V Poole, Andreea Manole, et al.
Brain : a Journal of Neurology|May 25, 2016
Genetic and phenotypic characterization of complex hereditary spastic paraplegiaEleanna Kara, Arianna Tucci, Claudia Manzoni, et al.
Pageof 4