Alice M. Donati

Florence, 50139, Italy

Last Updated: 09/26/2026

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Found 12 publications

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

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

Journal: Acta neuropathologica communications

Published: February 03, 2022

The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome.

The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome.

Journal: Frontiers in neurology

Published: July 02, 2021

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.

Journal: Orphanet journal of rare diseases

Published: June 23, 2021

North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.

North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.

Journal: PloS one

Published: April 19, 2021

The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy.

The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy.

Journal: Neuromuscular disorders : NMD

Published: November 12, 2020

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

Journal: PloS one

Published: August 01, 2019

Early neurodevelopmental characterization in children with cobalamin C/defect.

Early neurodevelopmental characterization in children with cobalamin C/defect.

Journal: Journal of inherited metabolic disease

Published: May 04, 2019

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

Journal: PloS one

Published: March 29, 2019

Genetic diagnosis of Mendelian disorders via RNA sequencing.

Genetic diagnosis of Mendelian disorders via RNA sequencing.

Journal: Nature communications

Published: December 29, 2016

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.

Journal: Human mutation

Published: November 16, 2016

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Journal: Journal of neurology

Published: February 20, 2015

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Journal: Journal of neurology

Published: November 13, 2013

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Last Updated: 09/26/2026