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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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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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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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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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Bi‐allelic variants in MDH2: Expanding the clinical phenotype

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

2022

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Expanding the clinical and genetic heterogeneity of SPAX5

Annals of clinical and translational neurology, 2020-04, Vol.7 (4), p.595-601

2020

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Five waves of COVID-19 pandemic in Italy: results of a national survey evaluating the impact on activities related to arrhythmias, pacing, and electrophysiology promoted by AIAC (Italian Association of Arrhythmology and Cardiac Pacing)

Internal and emergency medicine, 2023-01, Vol.18 (1), p.137-149

2023

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The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study

Journal of clinical medicine, 2021-07, Vol.10 (15), p.3222

2021

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MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach

Case Reports in Cardiology, 2016-01, Vol.2016, p.1490181-4

2016

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Thyroid cancer in HCV-related mixed cryoglobulinemia patients

Clinical and experimental rheumatology, 2002-09, Vol.20 (5), p.693

2002

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Malignant mesothelioma in Italy, 1997

American journal of industrial medicine, 2004-01, Vol.45 (1), p.55-62

2004

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Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome

Frontiers in neurology, 2018, Vol.9, p.728-728

2018

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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

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

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

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

Bi‐allelic variants in MDH2: Expanding the clinical phenotype

Expanding the clinical and genetic heterogeneity of SPAX5

Five waves of COVID-19 pandemic in Italy: results of a national survey evaluating the impact on activities related to arrhythmias, pacing, and electrophysiology promoted by AIAC (Italian Association of Arrhythmology and Cardiac Pacing)

The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study

MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach

Thyroid cancer in HCV-related mixed cryoglobulinemia patients

Malignant mesothelioma in Italy, 1997

Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome

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