Maria Luisa Mostacciuolo

Cardiac involvement in becker muscular dystrophy

Paola Melacini, Gian Antonio Danieli, G Fasoli et al. · Journal of the American College of Cardiology · 1993 · 132 citations

Cardiac Muscle, Cardiomyopathy, Heart Failure +5

Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy

Maria Luisa Mostacciuolo, Marta Miorin, Francesco Martinello et al. · Human Genetics · 1996 · 124 citations

North-east Italy, Rare Diseases, Genetic Testing +8

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

David Duggan, Maria Luisa Mostacciuolo, Flávia Martinello et al. · Journal of Medical Genetics · 1997 · 95 citations · Full text

Loss-of-function mutations in the<i>SIGMAR1</i>gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca²⁺signalling

Elisa Gregianin, Giorgia Pallafacchina, Sofia Zanin et al. · Human Molecular Genetics · 2016 · 93 citations · Full text

Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats

Massimo Gennarelli, Giuseppe Novelli, Andreasi Bassi et al. · American Journal of Medical Genetics · 1996 · 90 citations

Genetics, Genetic Epidemiology, Pathology +17