Lista de obras -

A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy

artículo científico publicado en 2011

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

artículo científico publicado en 2008

A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

artículo científico publicado en 2007

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

artículo científico publicado en 2010

A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis

scientific article published on 18 January 2014

Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.

artículo científico publicado en 2015

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.

artículo científico publicado en 2018

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia

artículo científico publicado en 2014

First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.

artículo científico publicado en 2013

HTRA1 expression profile and activity on TGF-β signaling in HTRA1 mutation carriers

scientific article published on 04 February 2020

Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.

artículo científico

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

artículo científico publicado en 2016

Mutation analysis of cerebrotendinous xanthomatosis in an Indian case

scientific article published on 01 November 2012

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

artículo científico publicado en 2018

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

article

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study

scientific article published on 16 August 2019

Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis

artículo científico publicado en 2011

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.

artículo científico publicado en 2011

The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies

scientific article published on 20 December 2019

Two novel HTRA1 mutations in a European CARASIL patient

artículo científico publicado en 2014

Lista de obras de

A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis

Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia

First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.

HTRA1 expression profile and activity on TGF-β signaling in HTRA1 mutation carriers

Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

Mutation analysis of cerebrotendinous xanthomatosis in an Indian case

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study

Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.

The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies

Two novel HTRA1 mutations in a European CARASIL patient