Paolo Broda

Genoa, Italy

Last Updated: 09/26/2026

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Found 8 publications

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

Novel TRIM32 mutation in sarcotubular myopathy.

Novel TRIM32 mutation in sarcotubular myopathy.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: July 17, 2019

Distal motor neuropathy associated with novel EMILIN1 mutation.

Distal motor neuropathy associated with novel EMILIN1 mutation.

Journal: Neurobiology of disease

Published: May 15, 2019

Expanding the histopathological spectrum of CFL2-related myopathies.

Expanding the histopathological spectrum of CFL2-related myopathies.

Journal: Clinical genetics

Published: December 04, 2017

Clinical and molecular consequences of exon 78 deletion in DMD gene.

Clinical and molecular consequences of exon 78 deletion in DMD gene.

Journal: Journal of human genetics

Published: October 05, 2017

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: August 30, 2017

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Journal: Orphanet journal of rare diseases

Published: February 11, 2016

Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.

Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.

Journal: Pediatric neurology

Published: July 14, 2015

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Last Updated: 09/26/2026