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Application of Precision Medicine in Neurodegenerative Diseases

Frontiers in neurology, 2018-08, Vol.9, p.701-701

2018

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Review of nutrient actions on age-related macular degeneration

Nutrition research (New York, N.Y.), 2014-02, Vol.34 (2), p.95-105

2014

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C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies

Frontiers in aging neuroscience, 2022-06, Vol.14, p.907122-907122

2022

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The Revolution of Genetic Diagnosis: An Example from Rare Disorders

Genes, 2024-10, Vol.15 (10), p.1328

Zampatti, Stefania

2024

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Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era

Neurogenetics, 2019-05, Vol.20 (2), p.57-64

2019

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The Genetics and the Genomics of Primary Congenital Glaucoma

BioMed research international, 2015-01, Vol.2015 (2015), p.1-7

2015

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Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations

Frontiers in neurology, 2023-12, Vol.14, p.1296924-1296924

2023

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A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset

BMC neurology, 2020-06, Vol.20 (1), p.1-258, Article 258

2020

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Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report

Frontiers in neurology, 2019-06, Vol.10, p.619

2019

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Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants

Frontiers in genetics, 2021-07, Vol.12, p.682050-682050

2021

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Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A

European journal of translational myology, 2023-07, Vol.33 (3)

2023

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Haplotypes in IL-8 Gene Are Associated to Age-Related Macular Degeneration: A Case-Control Study

PloS one, 2013-06, Vol.8 (6), p.e66978-e66978

2013

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Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease

Frontiers in neurology, 2018-07, Vol.9, p.536

2018

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Bioinformatic tools are essential to integrating pharmacogenomics into clinical practice: lessons from neuropsychiatric disorders

Pharmacogenomics, 2022-03, Vol.23 (4), p.221-223

2022

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Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings

Parkinson's disease, 2015-01, Vol.2015 (2015), p.405-410

2015

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Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD

Frontiers in neurology, 2018-11, Vol.9, p.1027

2018

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A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS)

Journal of molecular neuroscience, 2016-07, Vol.59 (3), p.376-381

2016

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The Pharmacogenomic HLA Biomarker Associated to Adverse Abacavir Reactions: Comparative Analysis of Different Genotyping Methods

Current genomics, 2012-06, Vol.13 (4), p.314-320

2012

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The Future of Pharmacogenomics Requires New Discoveries and Innovative Education

Genes, 2022-09, Vol.13 (9), p.1575

2022

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Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease

Parkinson's disease, 2018-01, Vol.2018 (2018), p.1-6

2018

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Erratum to “Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease”

Parkinson's disease, 2018, Vol.2018 (2018), p.1-1

2018

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Whole genome amplification and real-time PCR in forensic casework

BMC genomics, 2009-04, Vol.10 (1), p.159-159

2009

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Towards the application of precision medicine in Age-Related Macular Degeneration

Progress in retinal and eye research, 2018-03, Vol.63, p.132-146

2018

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RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape

Genes, 2024-09, Vol.15 (9), p.1158

2024

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Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management

Genes, 2024-04, Vol.15 (4), p.421

2024

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Application of Precision Medicine in Neurodegenerative Diseases

Review of nutrient actions on age-related macular degeneration

C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies

The Revolution of Genetic Diagnosis: An Example from Rare Disorders

Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era

The Genetics and the Genomics of Primary Congenital Glaucoma

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations

A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset

Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report

Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants

Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A

Haplotypes in IL-8 Gene Are Associated to Age-Related Macular Degeneration: A Case-Control Study

Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease

Bioinformatic tools are essential to integrating pharmacogenomics into clinical practice: lessons from neuropsychiatric disorders

Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings

Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS)

The Pharmacogenomic HLA Biomarker Associated to Adverse Abacavir Reactions: Comparative Analysis of Different Genotyping Methods

The Future of Pharmacogenomics Requires New Discoveries and Innovative Education

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease

Erratum to “Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease”

Whole genome amplification and real-time PCR in forensic casework

Towards the application of precision medicine in Age-Related Macular Degeneration

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape

Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management

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