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Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families

Journal of the neurological sciences, 2017-11, Vol.382, p.29-35

2017

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Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up

Journal of neurology, 2012-09, Vol.259 (9), p.1985-1987

2012

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Four novel CYP27A1 mutations in seven Italian patients with CTX

European journal of neurology, 2010-10, Vol.17 (10), p.1259-1262

2010

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

Clinical genetics, 2012-09, Vol.82 (3), p.277-282

2012

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The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene

Neurology, 2008-01, Vol.70 (5), p.402-404

2008

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

Journal of the neurological sciences, 2008-09, Vol.272 (1-2), p.106-109

2008

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Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNALeu(CUN) mutation of mitochondrial DNA

Journal of the neurological sciences, 2008-09, Vol.272 (1), p.106-109

2008

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A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy

Journal of neurology, 2006-05, Vol.253 (5), p.672-673

2006

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

Journal of the neurological sciences, 2008, Vol.272 (1), p.106-109

2008

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

Brain (London, England : 1878), 2011-11, Vol.134 (11), p.e195-e195

2011

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Mitochondrial Abnormalities in Genetically Assessed Oculopharyngeal Muscular Dystrophy

European neurology, 2004-01, Vol.51 (3), p.144-147

2004

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Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family

Neurology, 1999-03, Vol.52 (5), p.1103-1103

1999

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Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy

Molecular vision, 2010-02, Vol.16, p.178-183

2010

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A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778

Journal of neurology, 1998-05, Vol.245 (5), p.302-303

1998

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Cell response to oxidative stress induced apoptosis in patients with Leber’s hereditary optic neuropathy

Journal of neurology, neurosurgery and psychiatry, 2004-12, Vol.75 (12), p.1731-1736

2004

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Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835

Journal of submicroscopic cytology and pathology, 1999-04, Vol.31 (2), p.301

1999

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Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations

Biochemical and biophysical research communications, 2004-11, Vol.324 (1), p.360-364

2004

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Evidence of apoptosis via TUNEL staining in muscle biopsy from patients with mitochondrial encephaloneuromyopathies

Journal of submicroscopic cytology and pathology, 2003-01, Vol.35 (1), p.29

2003

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A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia

Biochemical and biophysical research communications, 2005-02, Vol.327 (3), p.675-678

2005

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Genetic leukoencephalopathies with unknown metabolic pathogenesis

Neurological sciences, 2001-11, Vol.22 Suppl 2 (8), p.S108-S112

2001

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The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy

Biochemical and biophysical research communications, 2007-03, Vol.355 (1), p.181-187

2007

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Glutathione, glutathione utilizing enzymes and thioltransferase in platelets of insulin-dependent diabetic patients: relation with platelet aggregation and with microangiopatic complications

European journal of clinical investigation, 1995-09, Vol.25 (9), p.665-669

1995

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Studies on the biological effects of ozone: 4. Cytokine production and glutathione levels in human erythrocytes

Journal of biological regulators and homeostatic agents, 1993-10, Vol.7 (4), p.133

1993

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

Journal of the neurological sciences, 2008-09, Vol.272 (1-2), p.106-109

2008

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MOLECULAR NEUROGENETICS OF MITOCHONDRIAL DISEASES

Journal of the Siena Academy of Sciences, 2012-01, Vol.1 (1), p.46

2012

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Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families

Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up

Four novel CYP27A1 mutations in seven Italian patients with CTX

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

The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene

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

Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNALeu(CUN) mutation of mitochondrial DNA

A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy

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

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

Mitochondrial Abnormalities in Genetically Assessed Oculopharyngeal Muscular Dystrophy

Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family

Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy

A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778

Cell response to oxidative stress induced apoptosis in patients with Leber’s hereditary optic neuropathy

Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835

Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations

Evidence of apoptosis via TUNEL staining in muscle biopsy from patients with mitochondrial encephaloneuromyopathies

A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia

Genetic leukoencephalopathies with unknown metabolic pathogenesis

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy

Glutathione, glutathione utilizing enzymes and thioltransferase in platelets of insulin-dependent diabetic patients: relation with platelet aggregation and with microangiopatic complications

Studies on the biological effects of ozone: 4. Cytokine production and glutathione levels in human erythrocytes

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

MOLECULAR NEUROGENETICS OF MITOCHONDRIAL DISEASES

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