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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.288-292

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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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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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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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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Circadian heart rate fluctuations predict cardiovascular and all-cause mortality in type 2 and type 1 diabetes: a 21-year retrospective longitudinal study

European journal of preventive cardiology, 2024-09

2024

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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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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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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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Bi‐allelic variants in MDH2: Expanding the clinical phenotype

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

2022

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Relapsing-Remitting Course of Cystic Leukoencephalopathy

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

2018

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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

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

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

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

Circadian heart rate fluctuations predict cardiovascular and all-cause mortality in type 2 and type 1 diabetes: a 21-year retrospective longitudinal study

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

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

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

Bi‐allelic variants in MDH2: Expanding the clinical phenotype

Relapsing-Remitting Course of Cystic Leukoencephalopathy

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