List of works - Stefano Tozza

A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family

scientific article published on 05 June 2019

A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene

scientific article published on 28 March 2019

Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise"

article

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

scientific article published on 04 May 2020

Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?

scientific article

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

scientific article published on 01 February 2020

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

scientific article published in December 2014

Contribution of Skin Biopsy in Peripheral Neuropathies

scientific article published on 15 December 2020

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

scientific article published on 01 August 2020

Early predictive factors of disability in CIDP.

scientific article

Electrophysiological characterization of adult-onset Niemann-Pick type C disease.

scientific article published on 16 December 2014

Expanding the spectrum of genes responsible for hereditary motor neuropathies

scientific article published on 05 June 2019

In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C

scientific article published on 14 November 2019

Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCs

scientific article published on 24 November 2019

Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report

scientific article published on 13 March 2018

Microstructural Changes in Motor Functional Conversion Disorder: Multimodal Imaging Approach on a Case

scientific article published on 18 June 2020

Motor performance deterioration accelerates after 50 years of age in Charcot-Marie-Tooth type 1A patients.

scientific article

Nerve conduction velocity in CMT1A: what else can we tell?

scientific article published on 14 July 2016

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.

scientific article published on 3 May 2017

One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better?

article

Postural instability in Charcot-Marie-Tooth 1A disease

scientific article published on 28 July 2016

Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry

scientific article published on 14 September 2020

Pseudo-orthostatic tremor: description of a not typical case

scientific article published on 12 June 2019

Seronegative occult HBV reactivation complicated with fulminant acute liver failure after rituximab for chronic inflammatory demyelinating polyneuropathy

scientific article published on 26 November 2019

Six-minute walk test is reliable and sensitive in detecting response to therapy in CIDP

scientific article published on 05 February 2019

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

scientific article published on 26 October 2020

List of works by Stefano Tozza

A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family

A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene

Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise"

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

Contribution of Skin Biopsy in Peripheral Neuropathies

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

Early predictive factors of disability in CIDP.

Electrophysiological characterization of adult-onset Niemann-Pick type C disease.

Expanding the spectrum of genes responsible for hereditary motor neuropathies

In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C

Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCs

Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report

Microstructural Changes in Motor Functional Conversion Disorder: Multimodal Imaging Approach on a Case

Motor performance deterioration accelerates after 50 years of age in Charcot-Marie-Tooth type 1A patients.

Nerve conduction velocity in CMT1A: what else can we tell?

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.

One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better?

Postural instability in Charcot-Marie-Tooth 1A disease

Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry

Pseudo-orthostatic tremor: description of a not typical case

Seronegative occult HBV reactivation complicated with fulminant acute liver failure after rituximab for chronic inflammatory demyelinating polyneuropathy

Six-minute walk test is reliable and sensitive in detecting response to therapy in CIDP

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers