Daniele Sabbatini

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

Luca Bello, Maria Grazia D’Angelo, Matteo Villa et al. · Annals of Clinical and Translational Neurology · 2020 · 45 citations · Full text

Medicine, Genetics, Medical Genetics +12

Internal validation and improvement of mitochondrial genome sequencing using the Precision ID mtDNA Whole Genome Panel

Christian Faccinetto, Daniele Sabbatini, Patrizia Serventi et al. · International Journal of Legal Medicine · 2021 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Evaluation of peripherin in biofluids of patients with motor neuron diseases

Daniele Sabbatini, Flavia Raggi, Susanna Ruggero et al. · Annals of Clinical and Translational Neurology · 2021 · 19 citations · Full text

Medicine, Neurology, Neuroscience +17

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

Aurora Fusto, Denise Cassandrini, Chiara Fiorillo et al. · Acta Neuropathologica Communications · 2022 · 17 citations · Full text

Medicine, Bioinformatics, Genetics +16

Natural history of Becker muscular dystrophy: <i>DMD</i> gene mutations predict clinical severity

Domenico Gorgoglione, Daniele Sabbatini, Pietro Riguzzi et al. · Brain · 2024 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14