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Antioxidants & Redox Signaling
|
August 25, 2021
Reactive Species in Progeroid Syndromes and Aging-Related Processes
Clément Crochemore, Chiara Cimmaruta, Cristina Fernández-Molina, et al.
International Journal of Molecular Sciences
|
September 27, 2017
E-Learning for Rare Diseases: An Example Using Fabry Disease
Chiara Cimmaruta, Ludovica Liguori, Maria Monticelli, et al.
Biology of the Cell
|
February 28, 2026
A Robust Methodological Framework for Generating Whole-Brain and Cortical Organoids From Diverse Healthy- and Patient-Derived Induced Pluripotent Stem Cell Lines
Tara Fournier, Eugenia Pugliese, Benjamin Montagne, et al.
Plos One
|
December 21, 2017
A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG
Valentina Citro, Chiara Cimmaruta, Ludovica Liguori, et al.
BMC Bioinformatics
|
December 1, 2018
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase
Chiara Cimmaruta, Valentina Citro, Giuseppina Andreotti, et al.
International Journal of Molecular Sciences
|
December 6, 2016
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations
Valentina Citro, Marco Cammisa, Ludovica Liguori, et al.
International Journal of Molecular Sciences
|
August 1, 2018
The Analysis of Variants in the General Population Reveals That <i>PMM2</i> Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers
Valentina Citro, Chiara Cimmaruta, Maria Monticelli, et al.
International Journal of Molecular Sciences
|
March 11, 2023
Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy
Ilaria Iacobucci, Bruno Hay Mele, Flora Cozzolino, et al.
Stem Cell Research
|
November 1, 2019
Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A
Christin Völkner, Franziska Peter, Maik Liedtke, et al.
International Journal of Molecular Sciences
|
February 7, 2020
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease
Jan Lukas, Chiara Cimmaruta, Ludovica Liguori, et al.
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Search research articles
Search
Showing results (1-10 of 13) with videos related to
Sort By:
Page
of 2
Antioxidants & Redox Signaling
|
August 25, 2021
Reactive Species in Progeroid Syndromes and Aging-Related Processes
Clément Crochemore, Chiara Cimmaruta, Cristina Fernández-Molina, et al.
International Journal of Molecular Sciences
|
September 27, 2017
E-Learning for Rare Diseases: An Example Using Fabry Disease
Chiara Cimmaruta, Ludovica Liguori, Maria Monticelli, et al.
Biology of the Cell
|
February 28, 2026
A Robust Methodological Framework for Generating Whole-Brain and Cortical Organoids From Diverse Healthy- and Patient-Derived Induced Pluripotent Stem Cell Lines
Tara Fournier, Eugenia Pugliese, Benjamin Montagne, et al.
Plos One
|
December 21, 2017
A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG
Valentina Citro, Chiara Cimmaruta, Ludovica Liguori, et al.
BMC Bioinformatics
|
December 1, 2018
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase
Chiara Cimmaruta, Valentina Citro, Giuseppina Andreotti, et al.
International Journal of Molecular Sciences
|
December 6, 2016
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations
Valentina Citro, Marco Cammisa, Ludovica Liguori, et al.
International Journal of Molecular Sciences
|
August 1, 2018
The Analysis of Variants in the General Population Reveals That <i>PMM2</i> Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers
Valentina Citro, Chiara Cimmaruta, Maria Monticelli, et al.
International Journal of Molecular Sciences
|
March 11, 2023
Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy
Ilaria Iacobucci, Bruno Hay Mele, Flora Cozzolino, et al.
Stem Cell Research
|
November 1, 2019
Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A
Christin Völkner, Franziska Peter, Maik Liedtke, et al.
International Journal of Molecular Sciences
|
February 7, 2020
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease
Jan Lukas, Chiara Cimmaruta, Ludovica Liguori, et al.
Page
of 2