List of works - Maria Teresa Dotti

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

scientific article published on 12 June 2011

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

scientific article published on 02 June 2008

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

scientific article published on 5 July 2007

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

scientific article published on 16 March 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.

scientific article published on 6 March 2015

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.

scientific article published on 18 January 2018

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

scientific article published on 02 March 2014

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

scientific article published on 12 April 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.

scientific article published on 06 August 2017

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

scientific article published on 4 February 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.

scientific article published on 3 April 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

scientific article published on 20 July 2011

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

scientific article

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

scientific article published on 05 February 2014

List of works by Maria Teresa Dotti