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Fabio Acquaviva

Showing results (11-20 of 24) with videos related to

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Human Molecular Genetics|April 21, 2009
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxiaGiovanni Coppola, Daniele Marmolino, Daning Lu, et al.
Journal of Cell Science|August 11, 2005
Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2Fabio Acquaviva, Irene De Biase, Luigi Nezi, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: the masterpieces of the "Sansevero Chapel"Matteo Della Monica, Domenico Galzerano, Sara Di Michele, et al.
Children (Basel, Switzerland)|December 30, 2025
Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the <i>GRIA3</i> GeneAlfonso Rubino, Giorgia Bruno, Gabriella Errichiello, et al.
Genes|October 27, 2022
Different Mechanisms Cause Hypomethylation of Both <i>H19</i> and <i>KCNQ1OT1</i> Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome SpectrumFrancesco Passaretti, Laura Pignata, Giuseppina Vitiello, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivationFortunato Lonardo, Paola Di Natale, Susanna Lualdi, et al.
American Journal of Medical Genetics. Part A|September 30, 2016
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutationFabio Acquaviva, Maria Elena Sana, Matteo Della Monica, et al.
International Journal of Molecular Sciences|September 13, 2025
Early Diagnosis and Follow-Up of a Novel Homozygous Mutation in <i>SOST</i> Gene in a Child with Recurrent Facial Palsy: A Case Report and Review of the LiteratureFabio Acquaviva, Giorgia Bruno, Federica Palladino, et al.
Frontiers in Cell and Developmental Biology|August 28, 2023
Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?Laura Pignata, Francesco Cecere, Fabio Acquaviva, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 21, 2011
Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocritFrancesco Saccà, Raffaele Piro, Giuseppe De Michele, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
Human Molecular Genetics|April 21, 2009
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxiaGiovanni Coppola, Daniele Marmolino, Daning Lu, et al.
Journal of Cell Science|August 11, 2005
Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2Fabio Acquaviva, Irene De Biase, Luigi Nezi, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: the masterpieces of the "Sansevero Chapel"Matteo Della Monica, Domenico Galzerano, Sara Di Michele, et al.
Children (Basel, Switzerland)|December 30, 2025
Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the <i>GRIA3</i> GeneAlfonso Rubino, Giorgia Bruno, Gabriella Errichiello, et al.
Genes|October 27, 2022
Different Mechanisms Cause Hypomethylation of Both <i>H19</i> and <i>KCNQ1OT1</i> Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome SpectrumFrancesco Passaretti, Laura Pignata, Giuseppina Vitiello, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivationFortunato Lonardo, Paola Di Natale, Susanna Lualdi, et al.
American Journal of Medical Genetics. Part A|September 30, 2016
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutationFabio Acquaviva, Maria Elena Sana, Matteo Della Monica, et al.
International Journal of Molecular Sciences|September 13, 2025
Early Diagnosis and Follow-Up of a Novel Homozygous Mutation in <i>SOST</i> Gene in a Child with Recurrent Facial Palsy: A Case Report and Review of the LiteratureFabio Acquaviva, Giorgia Bruno, Federica Palladino, et al.
Frontiers in Cell and Developmental Biology|August 28, 2023
Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?Laura Pignata, Francesco Cecere, Fabio Acquaviva, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 21, 2011
Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocritFrancesco Saccà, Raffaele Piro, Giuseppe De Michele, et al.
Pageof 3