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Barbara Siri

7PUBLICATIONS
36CO-AUTHORS
Neurology and neuromuscular diseasesMajor global burdens of diseaseReaction engineering (excl. nuclear reactions)Haematological tumoursAutonomic nervous system
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Journal

Publications (7)

Sort by Publication Date:
|Apr 02, 2026
Neurological manifestations and genotype-phenotype correlations in <i>NDUFAF6</i>-associated mitochondrial disease.

Alessandra Torraco, Charlotte L Alston, Giulia Barcia

|Nov 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben

|Jan 08, 2025
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.

Barbara Siri, Benedetta Greco, Diego Martinelli

|Jan 03, 2024
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.

Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri

|Oct 10, 2023
Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study.

Barbara Siri, Annamaria D'Alessandro, Arianna Maiorana

|Mar 02, 2023
Neurologic outcome following liver transplantation for methylmalonic aciduria.

Diego Martinelli, Giulio Catesini, Benedetta Greco

Pageof 2

Frequent Collaborators

3 joint publications

Diego Martinelli

1 joint publications

Giulio Catesini

1 joint publications

Benedetta Greco

1 joint publications

Alessia Guarnera

1 joint publications

Chiara Parrillo

1 joint publications

Evelina Maines

1 joint publications

Daniela Longo

1 joint publications

Antonio Napolitano

1 joint publications

Sara Cairoli

1 joint publications

Daniela Liccardo

Frequent Collaborators

3 joint publications

Diego Martinelli

1 joint publications

Giulio Catesini

1 joint publications

Benedetta Greco

1 joint publications

Alessia Guarnera

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