List of works - Gian Nicola Gallus

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

scientific article published on 12 June 2011

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 novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

scientific article

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

Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report.

scientific article published on 17 October 2015

Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation : six-year MRI follow-up

scientific article published on 15 March 2012

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

scientific article published on 02 March 2014

Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA.

scientific article published on 7 July 2008

Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.

scientific article published on June 2006

Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis

scientific article published on 21 November 2010

Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.

scientific article

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

scientific article published on 12 April 2013

Four novel CYP27A1 mutations in seven Italian patients with CTX

scientific article published on 01 October 2010

High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy.

scientific article published on 15 August 2011

Mitochondria, oxidative stress and neurodegeneration.

scientific article published on 04 June 2012

Mutation analysis of cerebrotendinous xanthomatosis in an Indian case

scientific article published on 01 November 2012

Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis

scientific article published on 20 July 2011

Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid ⬇️

scientific article published on August 10, 2012

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

scientific article

Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation ⬇️

scientific article published on June 6, 2011

Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?

scientific article published on 7 June 2015

Two novel HTRA1 mutations in a European CARASIL patient

scientific article published on 05 February 2014

List of works by Gian Nicola Gallus

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

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

A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

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.

Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report.

Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation : six-year MRI follow-up

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

Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA.

Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.

Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis

Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.

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

Four novel CYP27A1 mutations in seven Italian patients with CTX

High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy.

Mitochondria, oxidative stress and neurodegeneration.

Mutation analysis of cerebrotendinous xanthomatosis in an Indian case

Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis

Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid ⬇️

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

Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation ⬇️

Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?

Two novel HTRA1 mutations in a European CARASIL patient