about
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiencyClinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.Mitochondria, oxidative stress and neurodegeneration.Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.A second MNGIE patient without typical mitochondrial skeletal muscle involvement.High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy.Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA.First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report.Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?Two novel HTRA1 mutations in a European CARASIL patientClinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosisA suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosisCerebrotendinous xanthomatosis with progressive cerebellar vacuolation : six-year MRI follow-upFour novel CYP27A1 mutations in seven Italian patients with CTXA new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathyParkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosisMutation analysis of cerebrotendinous xanthomatosis in an Indian caseCerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia
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description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Gian Nicola Gallus
@ast
Gian Nicola Gallus
@en
Gian Nicola Gallus
@es
Gian Nicola Gallus
@nl
type
label
Gian Nicola Gallus
@ast
Gian Nicola Gallus
@en
Gian Nicola Gallus
@es
Gian Nicola Gallus
@nl
prefLabel
Gian Nicola Gallus
@ast
Gian Nicola Gallus
@en
Gian Nicola Gallus
@es
Gian Nicola Gallus
@nl
P106
P21
P31
P496
0000-0001-5801-223X