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Manuela Morleo

Showing results (11-20 of 47) with videos related to

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Human Molecular Genetics|November 3, 2018
The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signalingFilomena Massa, Roberta Tammaro, Miguel A Prado, et al.
Biochimica Et Biophysica Acta|September 6, 2002
Molecular characterization of the human PLC beta1 geneDaniela Peruzzi, Michela Aluigi, Lucia Manzoli, et al.
American Journal of Human Genetics|October 13, 2006
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndromeIsabella Wimplinger, Manuela Morleo, Georg Rosenberger, et al.
European Journal of Human Genetics : EJHG|May 31, 2024
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomesGerman Demidov, Steven Laurie, Annalaura Torella, et al.
Autophagy|May 25, 2022
Crosstalk between cilia and autophagy: implication for human diseasesManuela Morleo, Helena L A Vieira, Petra Pennekamp, et al.
Clinical Genetics|August 9, 2023
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotypeDomizia Pasquetti, Federica Francesca L'Erario, Giuseppe Marangi, et al.
Orphanet Journal of Rare Diseases|April 15, 2021
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variantClaudia Mandato, Maria Anna Siano, Lucia Nazzaro, et al.
The EMBO Journal|December 28, 2020
Regulation of autophagosome biogenesis by OFD1-mediated selective autophagyManuela Morleo, Simona Brillante, Umberto Formisano, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology|April 28, 2020
HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine modelsEstanislao Peixoto, Sujeong Jin, Kristen Thelen, et al.
American Journal of Human Genetics|November 6, 2012
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial diseaseAlessia Indrieri, Vanessa Alexandra van Rahden, Valeria Tiranti, et al.
Pageof 5

Showing results (11-20 of 47) with videos related to

Sort By:
Pageof 5
Human Molecular Genetics|November 3, 2018
The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signalingFilomena Massa, Roberta Tammaro, Miguel A Prado, et al.
Biochimica Et Biophysica Acta|September 6, 2002
Molecular characterization of the human PLC beta1 geneDaniela Peruzzi, Michela Aluigi, Lucia Manzoli, et al.
American Journal of Human Genetics|October 13, 2006
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndromeIsabella Wimplinger, Manuela Morleo, Georg Rosenberger, et al.
European Journal of Human Genetics : EJHG|May 31, 2024
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomesGerman Demidov, Steven Laurie, Annalaura Torella, et al.
Autophagy|May 25, 2022
Crosstalk between cilia and autophagy: implication for human diseasesManuela Morleo, Helena L A Vieira, Petra Pennekamp, et al.
Clinical Genetics|August 9, 2023
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotypeDomizia Pasquetti, Federica Francesca L'Erario, Giuseppe Marangi, et al.
Orphanet Journal of Rare Diseases|April 15, 2021
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variantClaudia Mandato, Maria Anna Siano, Lucia Nazzaro, et al.
The EMBO Journal|December 28, 2020
Regulation of autophagosome biogenesis by OFD1-mediated selective autophagyManuela Morleo, Simona Brillante, Umberto Formisano, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology|April 28, 2020
HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine modelsEstanislao Peixoto, Sujeong Jin, Kristen Thelen, et al.
American Journal of Human Genetics|November 6, 2012
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial diseaseAlessia Indrieri, Vanessa Alexandra van Rahden, Valeria Tiranti, et al.
Pageof 5