Alessandra Pennisi
Garches, France
Last Updated: 09/26/2026
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Found 19 publications
Large phenotypic variability with severe respiratory involvement in MEGF10-related myopathies: Description of three cases.
Journal: Journal of neuromuscular diseases
Published: July 23, 2026
No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases.
Journal: European journal of immunology
Published: April 28, 2025
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Journal: Clinical genetics
Published: December 26, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Journal: Annals of clinical and translational neurology
Published: February 26, 2024
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.
Journal: Neuromuscular disorders : NMD
Published: June 22, 2023
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 05, 2023
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 01, 2022
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Journal: Annals of neurology
Published: November 07, 2021
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
Journal: Journal of inherited metabolic disease
Published: September 21, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Journal: Annals of clinical and translational neurology
Published: September 08, 2021
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.
Journal: Developmental medicine and child neurology
Published: December 15, 2020
Improving post-natal detection of mitochondrial DNA mutations.
Journal: Expert review of molecular diagnostics
Published: September 09, 2020
Last Updated: 09/26/2026