Enrico Ambrosini

Publication Activity (10 Years)

Years Active: 2023-2024
Publications (10 Years): 25

Top Topics

Polycystic Kidney Disease

Top Venues

International journal of molecular sciences

Movement disorders : official journal of the Movement Disorder Society

European child & adolescent psychiatry

This page only lists publications with an associated author ORCID identifier.

Publications

Franco Gemignani, Antonio Percesepe, Francesca Gualandi, Isabella Allegri, Maria Federica Bellanova, Andi Nuredini, Elena Saccani, Enrico Ambrosini, Valeria Barili, Vera Uliana
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy. International journal of molecular sciences 25 (3) (2024)
Enrico Ambrosini, Rita Cancilla, Jefri Jeya Paul, Peter Bauer, Barbara Garavaglia, Valeria Barili, Antonio Percesepe, Anna Negrotti
Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders. Movement disorders : official journal of the Movement Disorder Society 39 (6) (2024)
Valeria Barili, Enrico Ambrosini, Beatrice Bortesi, Roberta Minari, Erika De Sensi, Ilenia Rita Cannizzaro, Antonietta Taiani, Maria Michiara, Angelica Sikokis, Daniela Boggiani, Chiara Tommasi, Olga Serra, Francesco Bonatti, Alessia Adorni, Anita Luberto, Patrizia Caggiati, Davide Martorana, Vera Uliana, Antonio Percesepe, Antonino Musolino, Benedetta Pellegrino
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing. Genes 15 (2) (2024)
Enrico Ambrosini, Rita Cancilla, Jefri Jeya Paul, Peter Bauer, Barbara Garavaglia, Valeria Barili, Antonio Percesepe, Anna Negrotti
Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders. Movement disorders : official journal of the Movement Disorder Society 39 (6) (2024)
Franco Gemignani, Antonio Percesepe, Francesca Gualandi, Isabella Allegri, Maria Federica Bellanova, Andi Nuredini, Elena Saccani, Enrico Ambrosini, Valeria Barili, Vera Uliana
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy. International journal of molecular sciences 25 (3) (2024)
Enrico Ambrosini, Rita Cancilla, Jefri Jeya Paul, Peter Bauer, Barbara Garavaglia, Valeria Barili, Antonio Percesepe, Anna Negrotti
Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders. Movement disorders : official journal of the Movement Disorder Society 39 (6) (2024)
Valeria Barili, Enrico Ambrosini, Beatrice Bortesi, Roberta Minari, Erika De Sensi, Ilenia Rita Cannizzaro, Antonietta Taiani, Maria Michiara, Angelica Sikokis, Daniela Boggiani, Chiara Tommasi, Olga Serra, Francesco Bonatti, Alessia Adorni, Anita Luberto, Patrizia Caggiati, Davide Martorana, Vera Uliana, Antonio Percesepe, Antonino Musolino, Benedetta Pellegrino
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing. Genes 15 (2) (2024)
Franco Gemignani, Antonio Percesepe, Francesca Gualandi, Isabella Allegri, Maria Federica Bellanova, Andi Nuredini, Elena Saccani, Enrico Ambrosini, Valeria Barili, Vera Uliana
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy. International journal of molecular sciences 25 (3) (2024)
Valeria Barili, Enrico Ambrosini, Beatrice Bortesi, Roberta Minari, Erika De Sensi, Ilenia Rita Cannizzaro, Antonietta Taiani, Maria Michiara, Angelica Sikokis, Daniela Boggiani, Chiara Tommasi, Olga Serra, Francesco Bonatti, Alessia Adorni, Anita Luberto, Patrizia Caggiati, Davide Martorana, Vera Uliana, Antonio Percesepe, Antonino Musolino, Benedetta Pellegrino
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing. Genes 15 (2) (2024)
Franco Gemignani, Antonio Percesepe, Francesca Gualandi, Isabella Allegri, Maria Federica Bellanova, Andi Nuredini, Elena Saccani, Enrico Ambrosini, Valeria Barili, Vera Uliana
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy. International journal of molecular sciences 25 (3) (2024)
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene. Genes 15 (4) (2024)
Valeria Barili, Enrico Ambrosini, Beatrice Bortesi, Roberta Minari, Erika De Sensi, Ilenia Rita Cannizzaro, Antonietta Taiani, Maria Michiara, Angelica Sikokis, Daniela Boggiani, Chiara Tommasi, Olga Serra, Francesco Bonatti, Alessia Adorni, Anita Luberto, Patrizia Caggiati, Davide Martorana, Vera Uliana, Antonio Percesepe, Antonino Musolino, Benedetta Pellegrino
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing. Genes 15 (2) (2024)
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene. Genes 15 (4) (2024)
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene. Genes 15 (4) (2024)
Franco Gemignani, Antonio Percesepe, Francesca Gualandi, Isabella Allegri, Maria Federica Bellanova, Andi Nuredini, Elena Saccani, Enrico Ambrosini, Valeria Barili, Vera Uliana
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy. International journal of molecular sciences 25 (3) (2024)
Maria Giardino, Francesca Peluso, Omar Daolio, Melissa Bellini, Enrico Ambrosini, Matteo Zito, Antonella Squarcia
An uncommon neuroradiological finding of hippocampal malrotation in childhood onset schizophrenia and 22q11.2 Deletion Syndrome: a case report and a brief review of the literature. European child & adolescent psychiatry (2024)
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene. Genes 15 (4) (2024)
Enrico Ambrosini, Rita Cancilla, Jefri Jeya Paul, Peter Bauer, Barbara Garavaglia, Valeria Barili, Antonio Percesepe, Anna Negrotti
Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders. Movement disorders : official journal of the Movement Disorder Society (2024)
Enrico Ambrosini, Francesca Montanari, Carlotta Pia Cristalli, Irene Capelli, Claudio La Scola, Andrea Pasini, Claudio Graziano
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles. Genes 14 (6) (2023)
Enrico Ambrosini, Francesca Montanari, Carlotta Pia Cristalli, Irene Capelli, Claudio La Scola, Andrea Pasini, Claudio Graziano
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles. Genes 14 (6) (2023)
Valeria Barili, Enrico Ambrosini, Vera Uliana, Melissa Bellini, Giulia Vitetta, Davide Martorana, Ilenia Rita Cannizzaro, Antonietta Taiani, Erika De Sensi, Patrizia Caggiati, Sarah Hilton, Siddharth Banka, Antonio Percesepe
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond. Genes 14 (6) (2023)
Valeria Barili, Enrico Ambrosini, Vera Uliana, Melissa Bellini, Giulia Vitetta, Davide Martorana, Ilenia Rita Cannizzaro, Antonietta Taiani, Erika De Sensi, Patrizia Caggiati, Sarah Hilton, Siddharth Banka, Antonio Percesepe
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond. Genes 14 (6) (2023)
Enrico Ambrosini, Francesca Montanari, Carlotta Pia Cristalli, Irene Capelli, Claudio La Scola, Andrea Pasini, Claudio Graziano
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles. Genes 14 (6) (2023)
Enrico Ambrosini, Francesca Montanari, Carlotta Pia Cristalli, Irene Capelli, Claudio La Scola, Andrea Pasini, Claudio Graziano
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles. Genes 14 (6) (2023)
Valeria Barili, Enrico Ambrosini, Vera Uliana, Melissa Bellini, Giulia Vitetta, Davide Martorana, Ilenia Rita Cannizzaro, Antonietta Taiani, Erika De Sensi, Patrizia Caggiati, Sarah Hilton, Siddharth Banka, Antonio Percesepe
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond. Genes 14 (6) (2023)