Francesco Mari

Largo Brambilla Street 3
Florence, 50134, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 54 publications

Neurodevelopmental disorders in childhood-onset hereditary spastic paraplegia type 7: a case series and review of literature.

Neurodevelopmental disorders in childhood-onset hereditary spastic paraplegia type 7: a case series and review of literature.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: November 04, 2025

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: April 10, 2024

Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector.

Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector.

Journal: Stem cell research

Published: March 12, 2024

Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector.

Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector.

Journal: Stem cell research

Published: August 06, 2023

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Journal: Science advances

Published: March 10, 2023

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.

Journal: International journal of molecular sciences

Published: September 30, 2022

THC and THC-COOH hair concentrations: Influence of age, gender, consumption habits, cosmetics treatment, and hair features.

THC and THC-COOH hair concentrations: Influence of age, gender, consumption habits, cosmetics treatment, and hair features.

Journal: Journal of pharmaceutical and biomedical analysis

Published: September 20, 2022

The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.

The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.

Journal: Journal of clinical medicine

Published: May 22, 2021

Determination of endogenous GHB levels in chest and pubic hair.

Determination of endogenous GHB levels in chest and pubic hair.

Journal: Forensic science international

Published: April 02, 2021

Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report.

Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report.

Journal: BMC medical genomics

Published: December 14, 2020

Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.

Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.

Journal: BMC medical genomics

Published: November 08, 2020

Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases.

Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Published: October 28, 2020

Showing 1-12 of 54

Last Updated: 09/26/2026