Chiara Fiorillo

Istituto Giannina Gaslini

Italy

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Articles (10)

Year:

2023

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Collaborators (5)

Eugenia Rota

Chief

ITALY

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Diego Lopergolo

University of Siena

ITALY

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Giorgio Tasca

Clinical Prof of Neuromuscular Science

Newcastle University

UNITED KINGDOM

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Marina Grandis

University of Genoa

ITALY

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Giacomo Comi

Professore Ordinario

Università degli Studi di Torino

ITALY

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Chiara Fiorillo

Research Interests

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Articles (10)

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment

Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders

A case of anti-HMGCR myopathy triggered by sodium/glucose co-transporter 2 (SGLT2) inhibitors

An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia

Editorial: Myopathology of inherited myopathies

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

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review (Sept, 10.1007/s00415-021-10792-3, 2021)

Collaborators (5)

Eugenia Rota

Diego Lopergolo

Giorgio Tasca

Marina Grandis

Giacomo Comi

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