Francesca Moro

Pisa, Italy

Last Updated: 09/26/2026

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Found 22 publications

NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors.

NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors.

Journal: European neurology

Published: October 13, 2022

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

Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene.

Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: March 19, 2020

Customized multigene panels in epilepsy: the best things come in small packages.

Customized multigene panels in epilepsy: the best things come in small packages.

Journal: Neurogenetics

Published: July 12, 2019

SCN11A variant as possible pain generator in sensory axonal neuropathy.

SCN11A variant as possible pain generator in sensory axonal neuropathy.

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

Published: October 26, 2018

Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report.

Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report.

Journal: Neuromuscular disorders : NMD

Published: July 12, 2018

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

Journal: European journal of medical genetics

Published: May 31, 2018

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Journal: Orphanet journal of rare diseases

Published: March 08, 2018

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.

Journal: Developmental medicine and child neurology

Published: April 04, 2017

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

Journal: JIMD reports

Published: January 06, 2017

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.

Journal: Scientific reports

Published: June 08, 2016

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.

Journal: Journal of neurology

Published: March 23, 2016

Showing 1-12 of 22

Last Updated: 09/26/2026