Claudio Graziano

Mutations and polymorphisms of the skeletal muscle α-actin gene (<i>ACTA1</i>)

Nigel G. Laing, Danielle E. Dye, Carina Wallgren‐Pettersson et al. · Human Mutation · 2009 · 238 citations · Full text

Muscle Function, Genetics, Adult Skeletal Muscle +18

Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Tamar Harel, Wan Hee Yoon, Caterina Garone et al. · The American Journal of Human Genetics · 2016 · 186 citations · Full text

Distinct Neurological Syndromes, Neurodegenerative Diseases, Recurrent De Novo +10

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

Adele D’Amico, Claudio Graziano, Giuseppe Pacileo et al. · Neuromuscular Disorders · 2006 · 87 citations

Cardiac Muscle, Rare Diseases, Heart Failure +11

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Angelica D’Amore, Alessandra Tessa, Carlo Casali et al. · Frontiers in Neurology · 2018 · 81 citations · Full text

Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction

Elena Bonora, Francesca Bianco, Lina Cordeddu et al. · Gastroenterology · 2015 · 80 citations · Full text

Chronic Intestinal Pseudo-obstruction, Gastroenterology, Pathology +7