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Amelia Morrone

Showing results (61-70 of 116) with videos related to

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JIMD Reports|July 8, 2024
The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the <i>TPP1</i> gene and genotype-phenotype correlation in UkraineNataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, et al.
Journal of Medical Genetics|March 11, 2015
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effectsElena Parrini, Davide Mei, Maria Antonietta Pisanti, et al.
Bioorganic & Medicinal Chemistry|October 28, 2025
Selenoureido-N-alkyl-3,4,5-trihydroxypiperidines: probing their dual-target role in Gaucher diseaseDebora Pratesi, Francesca Clemente, Camilla Matassini, et al.
Orphanet Journal of Rare Diseases|August 7, 2013
Galactosialidosis: review and analysis of CTSA gene mutationsAnna Caciotti, Serena Catarzi, Rodolfo Tonin, et al.
ACS Chemical Neuroscience|March 13, 2025
Evidence of α-Synuclein/Glucocerebrosidase Dual Targeting by Iminosugar DerivativesGiuseppe Tagliaferro, Maria Giulia Davighi, Francesca Clemente, et al.
Nature Communications|September 12, 2024
Hybrid lipid-AuNP clusters as highly efficient SERS substrates for biomedical applicationsJacopo Cardellini, Caterina Dallari, Ilaria De Santis, et al.
ACS Applied Materials & Interfaces|April 19, 2022
3D Printing Silk-Based Bioresorbable Piezoelectric Self-Adhesive Holey Structures for <i>In Vivo</i> Monitoring on Soft TissuesIrene Chiesa, Carmelo De Maria, Maria Rachele Ceccarini, et al.
Human Mutation|February 17, 2005
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosisAnna Caciotti, Maria Alice Donati, Avihu Boneh, et al.
JIMD Reports|February 23, 2013
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose IntoleranceLorenzo Ferri, Anna Caciotti, Catia Cavicchi, et al.
European Journal of Human Genetics : EJHG|June 19, 2008
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry diseaseCamilla Filoni, Anna Caciotti, Laura Carraresi, et al.
Pageof 12

Showing results (61-70 of 116) with videos related to

Sort By:
Pageof 12
JIMD Reports|July 8, 2024
The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the <i>TPP1</i> gene and genotype-phenotype correlation in UkraineNataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, et al.
Journal of Medical Genetics|March 11, 2015
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effectsElena Parrini, Davide Mei, Maria Antonietta Pisanti, et al.
Bioorganic & Medicinal Chemistry|October 28, 2025
Selenoureido-N-alkyl-3,4,5-trihydroxypiperidines: probing their dual-target role in Gaucher diseaseDebora Pratesi, Francesca Clemente, Camilla Matassini, et al.
Orphanet Journal of Rare Diseases|August 7, 2013
Galactosialidosis: review and analysis of CTSA gene mutationsAnna Caciotti, Serena Catarzi, Rodolfo Tonin, et al.
ACS Chemical Neuroscience|March 13, 2025
Evidence of α-Synuclein/Glucocerebrosidase Dual Targeting by Iminosugar DerivativesGiuseppe Tagliaferro, Maria Giulia Davighi, Francesca Clemente, et al.
Nature Communications|September 12, 2024
Hybrid lipid-AuNP clusters as highly efficient SERS substrates for biomedical applicationsJacopo Cardellini, Caterina Dallari, Ilaria De Santis, et al.
ACS Applied Materials & Interfaces|April 19, 2022
3D Printing Silk-Based Bioresorbable Piezoelectric Self-Adhesive Holey Structures for <i>In Vivo</i> Monitoring on Soft TissuesIrene Chiesa, Carmelo De Maria, Maria Rachele Ceccarini, et al.
Human Mutation|February 17, 2005
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosisAnna Caciotti, Maria Alice Donati, Avihu Boneh, et al.
JIMD Reports|February 23, 2013
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose IntoleranceLorenzo Ferri, Anna Caciotti, Catia Cavicchi, et al.
European Journal of Human Genetics : EJHG|June 19, 2008
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry diseaseCamilla Filoni, Anna Caciotti, Laura Carraresi, et al.
Pageof 12