Manuela R. Spagnolo - Publications

Riboflavin therapy in complex I deficiency: Two new cases of leukoencephalopathy and a systematic literature review.

Journal: Journal of the neurological sciences

Published: March 10, 2026

Empagliflozin might improve chronic inflammatory bowel diseases also in humans.

Journal: Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver

Published: September 30, 2025

PHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label Trial.

Journal: Clinical therapeutics

Published: November 07, 2024

Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.

Journal: Stem cell research

Published: January 04, 2024

Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.

Journal: International journal of molecular sciences

Published: May 31, 2023

Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.

Journal: EMBO molecular medicine

Published: April 29, 2020

Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.

Journal: Human mutation

Published: March 26, 2020

Paraoxonase, arylesterase and lactonase activities of paraoxonase-1 (PON1) in obese and severely obese women.

Journal: Scandinavian journal of clinical and laboratory investigation

Published: November 24, 2017