Eugenia Storti

Pisa, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 14 publications

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.

Journal: European journal of neurology

Published: February 12, 2016

Spinocerebellar Ataxia Type 3 in Italy: Time to Change Mind.

Spinocerebellar Ataxia Type 3 in Italy: Time to Change Mind.

Journal: Neuroepidemiology

Published: January 04, 2016

Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family.

Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family.

Journal: Journal of neurology

Published: December 25, 2015

Hereditary spastic paraplegia type 11 with a very late onset.

Hereditary spastic paraplegia type 11 with a very late onset.

Journal: Journal of neurology

Published: June 05, 2015

Acute optic neuropathy associated with a novel MFN2 mutation.

Acute optic neuropathy associated with a novel MFN2 mutation.

Journal: Journal of neurology

Published: March 19, 2015

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.

Journal: Muscle & nerve

Published: September 22, 2014

Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred.

Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred.

Journal: BMC medical genetics

Published: January 15, 2014

Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.

Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.

Journal: Journal of neurology

Published: December 04, 2013

Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide.

Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide.

Journal: Current molecular medicine

Published: October 07, 2013

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

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

Published: October 04, 2013

Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.

Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: August 30, 2013

The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.

The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.

Journal: Journal of neurology

Published: August 12, 2013

Showing 1-12 of 14

Last Updated: 09/26/2026