Lista de obras - Gian Nicola Gallus - Dominio Público Uruguay

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis

artículo científico publicado en 2010

Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Four novel CYP27A1 mutations in seven Italian patients with CTX

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Mitochondria, oxidative stress and neurodegeneration.

artículo científico

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

artículo científico publicado en 2011

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

artículo científico publicado el 10 de agosto de 2012

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

artículo científico publicado en 2011

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

artículo científico publicado el 6 de junio de 2011

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

artículo científico publicado en 2015

Two novel HTRA1 mutations in a European CARASIL patient

artículo científico publicado en 2014

Lista de obras de 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