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Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy

PLoS genetics, 2018-02, Vol.14 (2), p.e1007210-e1007210

2018

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Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function

Ophthalmic genetics, 2019-05, Vol.40 (3), p.207-212

2019

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Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy

Investigative ophthalmology & visual science, 2011-07, Vol.52 (8), p.5618-5624

2011

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Genotype-Phenotype Correlation in Italian Families with Stargardt Disease

Ophthalmic research, 2005-05, Vol.37 (3), p.159-167

2005

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Association of a Homozygous Nonsense Mutation in the ABCA4 (ABCR) Gene with Cone-Rod Dystrophy Phenotype in an Italian Family

Ophthalmic research, 2004-03, Vol.36 (2), p.82-88

2004

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Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function

Ophthalmic Genetics, 2019, Vol.40 (3), p.207-212

2019

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An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration

Journal of pediatric ophthalmology and strabismus, 2002-09, Vol.39 (5), p.288

2002

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Ocular signs associated with a rhodopsin mutation (Cys-167→Arg) in a family with autosomal dominant retinitis pigmentosa

British journal of ophthalmology, 1998-06, Vol.82 (6), p.709-709

1998

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Electroanatomic and Pathologic Right Ventricular Outflow Tract Abnormalities in Patients With Brugada Syndrome

Journal of the American College of Cardiology, 2018-12, Vol.72 (22), p.2747-2757

2018

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Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae

International journal of molecular sciences, 2023-12, Vol.24 (23), p.16636

2023

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A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly

Neurobiology of disease, 2020-07, Vol.141, p.104880-104880, Article 104880

2020

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Synergistic effect of chronic kidney disease, neuropathy, and retinopathy on all-cause mortality in type 1 and type 2 diabetes: a 21-year longitudinal study

Cardiovascular diabetology, 2022-11, Vol.21 (1), p.233-233, Article 233

2022

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Glomerular Hyperfiltration Predicts Kidney Function Decline and Mortality in Type 1 and Type 2 Diabetes: A 21-Year Longitudinal Study

Diabetes care, 2023-04, Vol.46 (4), p.845-853

2023

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The Prognostic Role of Programmed Ventricular Stimulation in the Risk Stratification of Sudden Cardiac Death

Reviews in cardiovascular medicine, 2023-05, Vol.24 (5), p.152

2023

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Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome

Journal of neurology, 2023-06, Vol.270 (6), p.3266-3269

2023

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Abstract T1: Prognostic Value Of 24-hour Ambulatory Blood Pressure And Heart Rate Patterns In Diabetes: A 20-year Longitudinal Analysis Of The Chronic Diabetes Complications And All-cause Mortality In Pisa From 1999 Onwards (CHAMP1ON) Study Cohort

Hypertension (Dallas, Tex. 1979), 2021-09, Vol.78 (Suppl_1)

2021

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Prognostic value of 24‐hour ambulatory blood pressure patterns in diabetes: A 21‐year longitudinal study

Diabetes, obesity & metabolism, 2022-11, Vol.24 (11), p.2127-2137

2022

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Novel ICOX11/I Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and ISaccharomyces cerevisiae/I

International journal of molecular sciences, 2023-11, Vol.24 (23)

2023

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Teaching NeuroImages: Leigh-like features expand the picture of PMPCA -related disorders

Neurology, 2019-01, Vol.92 (2), p.e168

2019

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The features of the m.10197G>A mtDNA mutation

Journal of the neurological sciences, 2019-05, Vol.400, p.184-185

2019

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Ictogenesis of viral pneumonia: A comparison between SARS-CoV-2 and H1N1/H3N2

Epilepsy & behavior, 2022-01, Vol.126, p.108470-108470, Article 108470

2022

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VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

BMC medical genetics, 2019-05, Vol.20 (1), p.77-77, Article 77

2019

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Relapsing-Remitting Course of Cystic Leukoencephalopathy

Pediatric neurology, 2018-12, Vol.89, p.63-65

2018

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Bi‐allelic variants in MDH2: Expanding the clinical phenotype

Clinical genetics, 2022-02, Vol.101 (2), p.260-264

2022

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A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

Annals of human genetics, 2020-09, Vol.84 (5), p.417-422

2020

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Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy

Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function

Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy

Genotype-Phenotype Correlation in Italian Families with Stargardt Disease

Association of a Homozygous Nonsense Mutation in the ABCA4 (ABCR) Gene with Cone-Rod Dystrophy Phenotype in an Italian Family

Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function

An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration

Ocular signs associated with a rhodopsin mutation (Cys-167→Arg) in a family with autosomal dominant retinitis pigmentosa

Electroanatomic and Pathologic Right Ventricular Outflow Tract Abnormalities in Patients With Brugada Syndrome

Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae

A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly

Synergistic effect of chronic kidney disease, neuropathy, and retinopathy on all-cause mortality in type 1 and type 2 diabetes: a 21-year longitudinal study

Glomerular Hyperfiltration Predicts Kidney Function Decline and Mortality in Type 1 and Type 2 Diabetes: A 21-Year Longitudinal Study

The Prognostic Role of Programmed Ventricular Stimulation in the Risk Stratification of Sudden Cardiac Death

Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome

Abstract T1: Prognostic Value Of 24-hour Ambulatory Blood Pressure And Heart Rate Patterns In Diabetes: A 20-year Longitudinal Analysis Of The Chronic Diabetes Complications And All-cause Mortality In Pisa From 1999 Onwards (CHAMP1ON) Study Cohort

Prognostic value of 24‐hour ambulatory blood pressure patterns in diabetes: A 21‐year longitudinal study

Novel ICOX11/I Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and ISaccharomyces cerevisiae/I

Teaching NeuroImages: Leigh-like features expand the picture of PMPCA -related disorders

The features of the m.10197G>A mtDNA mutation

Ictogenesis of viral pneumonia: A comparison between SARS-CoV-2 and H1N1/H3N2

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

Relapsing-Remitting Course of Cystic Leukoencephalopathy

Bi‐allelic variants in MDH2: Expanding the clinical phenotype

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

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