List of works - Sara Benedetti

A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization.

scientific article published on 24 June 2011

A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation

scientific article published on 16 December 2014

Analyzing Histopathological Features of Rare Charcot-Marie-Tooth Neuropathies to Unravel Their Pathogenesis

Co-segregation of LMNA and PMP22 gene mutations in the same family

article

Deletion and transfection analysis of the p15/MTS2 gene in malignant gliomas.

scientific article published on December 1995

Dexamethasone inhibits the anti-tumor effect of interleukin 4 on rat experimental gliomas.

scientific article published in January 2003

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

scientific article

Emerging perspectives on laminopathies

Evaluation of damaging effects of splicing mutations: Validation of an in vitro method for diagnostic laboratories

scientific article published on 07 June 2014

Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer

scientific article

Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification

scientific article published on 16 January 2013

Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy

scientific article published on 26 July 2010

Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage

scientific article published on 22 January 2015

High-throughput genetic characterization of a cohort of Brugada syndrome patients

scientific article published on 28 July 2015

In vitro and in vivo effects of retrovirus-mediated transfer of the connexin 43 gene in malignant gliomas: consequences for HSVtk/GCV anticancer gene therapy.

scientific article published on September 1998

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

scientific article published on October 2014

Laminopathies: from the heart of the cell to the clinics

scientific article published in October 2004

Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.

scientific article published on 8 November 2005

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

scientific article

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

scientific article published on 21 March 2007

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

scientific article

Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication

scientific article

Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers

scientific article published in 2012

Retrovirus-mediated IL-4 gene therapy in spontaneous adenocarcinomas from MMTV-neu transgenic mice.

scientific article published in November 1999

Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients

article

The "bystander effect": association of U-87 cell death with ganciclovir-mediated apoptosis of nearby cells and lack of effect in athymic mice.

scientific article

The empowerment of translational research: lessons from laminopathies.

scientific article

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.

scientific article

List of works by Sara Benedetti

A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization.

A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation

Analyzing Histopathological Features of Rare Charcot-Marie-Tooth Neuropathies to Unravel Their Pathogenesis

Co-segregation of LMNA and PMP22 gene mutations in the same family

Deletion and transfection analysis of the p15/MTS2 gene in malignant gliomas.

Dexamethasone inhibits the anti-tumor effect of interleukin 4 on rat experimental gliomas.

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

Emerging perspectives on laminopathies

Evaluation of damaging effects of splicing mutations: Validation of an in vitro method for diagnostic laboratories

Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer

Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification

Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy

Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage

High-throughput genetic characterization of a cohort of Brugada syndrome patients

In vitro and in vivo effects of retrovirus-mediated transfer of the connexin 43 gene in malignant gliomas: consequences for HSVtk/GCV anticancer gene therapy.

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

Laminopathies: from the heart of the cell to the clinics

Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication

Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers

Retrovirus-mediated IL-4 gene therapy in spontaneous adenocarcinomas from MMTV-neu transgenic mice.

Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients

The "bystander effect": association of U-87 cell death with ganciclovir-mediated apoptosis of nearby cells and lack of effect in athymic mice.

The empowerment of translational research: lessons from laminopathies.

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.