Showing 1 - 20 results of 26 for search 'Vincenzo Nigro', query time: 1.51s
Refine Results
-
1
Two Cases of Myofibrillar Myopathies: Genetic and Quality of Life Study by Corrado Angelini, Chiara Ceolin, Alicia Aurora Rodriguez, Vincenzo Nigro
Published 2023-04-01
Article -
2
-
3
-
4
-
5
The Role of <i>TRPM4</i> Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution by Alberto Palladino, Andrea Antonio Papa, Roberta Petillo, Marianna Scutifero, Salvatore Morra, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Published 2022-01-01
Article -
6
-
7
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy by Emanuela Viggiano, Esther Picillo, Luigia Passamano, Maria Elena Onore, Giulio Piluso, Marianna Scutifero, Annalaura Torella, Vincenzo Nigro, Luisa Politano
Published 2023-01-01
Article -
8
A Novel Homozygous Loss-of-Function Variant in <i>SPRED2</i> Causes Autosomal Recessive Noonan-like Syndrome by Maria Elena Onore, Martina Caiazza, Antonella Farina, Gioacchino Scarano, Alberto Budillon, Rossella Nicoletta Borrelli, Giuseppe Limongelli, Vincenzo Nigro, Giulio Piluso
Published 2023-12-01
Article -
9
-
10
VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage by Francesco Musacchia, Marianthi Karali, Annalaura Torella, Steve Laurie, Valeria Policastro, Mariateresa Pizzo, Sergi Beltran, Giorgio Casari, Vincenzo Nigro, Sandro Banfi
Published 2021-12-01
Article -
11
Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary region. by Serena Capasso, Giovanna Cardiero, Gennaro Musollino, Romeo Prezioso, Rosario Testa, Sabrina Dembech, Giulio Piluso, Vincenzo Nigro, F Anna Digilio, Giuseppina Lacerra
Published 2023-05-01
Article -
12
-
13
A Novel Homozygous <i>GPAA1</i> Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect by Paolo Fontana, Alberto Budillon, Domenico Simeone, Francesca Del Vecchio Blanco, Martina Caiazza, Alessandra D’Amico, Fortunato Lonardo, Vincenzo Nigro, Giuseppe Limongelli, Gioacchino Scarano
Published 2023-07-01
Article -
14
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense <i>RNF213</i> Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literatu... by Claudia Santoro, Giuseppe Mirone, Mariateresa Zanobio, Giusy Ranucci, Alessandra D’Amico, Domenico Cicala, Maria Iascone, Pia Bernardo, Vincenzo Piccolo, Andrea Ronchi, Giuseppe Limongelli, Marco Carotenuto, Vincenzo Nigro, Giuseppe Cinalli, Giulio Piluso
Published 2022-08-01
Article -
15
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells by Emanuela Marchese, Marianna Caterino, Davide Viggiano, Armando Cevenini, Salvatore Tolone, Ludovico Docimo, Valentina Di Iorio, Francesca Del Vecchio Blanco, Roberta Fedele, Francesca Simonelli, Alessandra Perna, Vincenzo Nigro, Giovambattista Capasso, Margherita Ruoppolo, Miriam Zacchia
Published 2022-11-01
Article -
16
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies by Miriam Zacchia, Giovanna Capolongo, Francesca Del Vecchio Blanco, Floriana Secondulfo, Neha Gupta, Giancarlo Blasio, Rosa Maria Pollastro, Angela Cervesato, Giulio Piluso, Giuseppe Gigliotti, Annalaura Torella, Vincenzo Nigro, Alessandra F. Perna, Giovambattista Capasso, Francesco Trepiccione
Published 2023-03-01
Article -
17
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes by Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli, Michela Ripolone, Dario Ronchi, Francesco Fortunato, Patrizia Ciscato, Daniele Velardo, Maria Grazia D’Angelo, Francesca Gualandi, Vincenzo Nigro, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Daniela Piga
Published 2023-03-01
Article -
18
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes by Emanuele Monda, Michele Lioncino, Martina Caiazza, Vincenzo Simonelli, Claudia Nesti, Marta Rubino, Alessia Perna, Alfredo Mauriello, Alberta Budillon, Vincenzo Pota, Giorgia Bruno, Antonio Varone, Vincenzo Nigro, Filippo Maria Santorelli, Giuseppe Pacileo, Maria Giovanna Russo, Giulia Frisso, Simone Sampaolo, Giuseppe Limongelli
Published 2023-05-01
Article -
19
Myopalladin promotes muscle growth through modulation of the serum response factor pathway by Maria Carmela Filomena, Daniel L. Yamamoto, Marco Caremani, Vinay K. Kadarla, Giuseppina Mastrototaro, Simone Serio, Anupama Vydyanath, Margherita Mutarelli, Arcamaria Garofalo, Irene Pertici, Ralph Knöll, Vincenzo Nigro, Pradeep K. Luther, Richard L. Lieber, Moriah R. Beck, Marco Linari, Marie‐Louise Bang
Published 2020-02-01
Article -
20
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization by Juliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme L. Yamamoto, Marina Belisario, Monize Lazar, Wilson Campos, Rita de Cassia M. Pavanello, Mayana Zatz, Umbertina Reed, Edmar Zanoteli, Acary Bulle Oliveira, Vilma-Lotta Lehtokari, Erasmo B. Casella, Marcela C. Machado-Costa, Carina Wallgren-Pettersson, Nigel G. Laing, Vincenzo Nigro, Mariz Vainzof
Published 2022-10-01
Article