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Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes?

Expert review of molecular diagnostics, 2020-07, Vol.20 (7), p.703-714

2020

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Alternative Splicing of ALS Genes: Misregulation and Potential Therapies

Cellular and molecular neurobiology, 2020-01, Vol.40 (1), p.1-14

2020

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Early Behavioral Alterations and Increased Expression of Endogenous Retroviruses Are Inherited Across Generations in Mice Prenatally Exposed to Valproic Acid

Molecular neurobiology, 2019-05, Vol.56 (5), p.3736-3750

2019

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Association between HMGCR, CRP, and CETP gene polymorphisms and metabolic/inflammatory serum profile in healthy adolescents

Journal of translational medicine, 2023-10, Vol.21 (1), p.1-718, Article 718

2023

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LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy

Journal of translational medicine, 2022-03, Vol.20 (1), p.107-107, Article 107

2022

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Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions

Biomolecules (Basel, Switzerland), 2023-10, Vol.13 (10), p.1546

2023

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Algerian Olive Germplasm and Its Relationships with the Central-Western Mediterranean Varieties Contributes to Clarify Cultivated Olive Diversification

Plants (Basel), 2021-04, Vol.10 (4), p.678

2021

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Comparative genomic analysis reveals a critical role of de novo nucleotide biosynthesis for Saccharomyces cerevisiae virulence

PloS one, 2015-03, Vol.10 (3), p.e0122382-e0122382

2015

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Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges

Biomolecules (Basel, Switzerland), 2023-10, Vol.13 (11), p.1567

2023

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SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines

Genes, 2022-03, Vol.13 (3), p.537

2022

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Investigation of the dominance behavior of Saccharomyces cerevisiae strains during wine fermentation

International journal of food microbiology, 2013-07, Vol.165 (2), p.156-162

2013

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Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis

Neurobiology of aging, 2021-03, Vol.99, p.99.e7-99.e14

2021

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LPL, FNDC5 and PPAR[gamma] gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy

Journal of translational medicine, 2022-03, Vol.20 (1)

2022

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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Brain (London, England : 1878), 2024-05, Vol.147 (5), p.1887-1898

2024

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Individual Oligogenic Background in p.D91A- SOD1 Amyotrophic Lateral Sclerosis Patients

Genes, 2021-11, Vol.12 (12), p.1843

2021

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CIELab parameters of white dehydrated grapes as quality markers according to chemical composition, volatile profile and mechanical properties

Analytica chimica acta, 2012-06, Vol.732, p.105-113

2012

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A novel S379A TARDBP mutation associated to late-onset sporadic ALS

Neurological sciences, 2019-10, Vol.40 (10), p.2111-2118

2019

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Comparative Genomic Analysis Reveals a Critical Role of De Novo Nucleotide Biosynthesis for Saccharomyces cerevisiae Virulence: e0122382

PloS one, 2015-03, Vol.10 (3)

2015

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Neutralization of IL‐17 rescues amyloid‐β‐induced neuroinflammation and memory impairment

British journal of pharmacology, 2019-09, Vol.176 (18), p.3544-3557

2019

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Clinical, pathological, and PAM50 gene expression features of HER2-low breast cancer

NPJ breast cancer, 2021-01, Vol.7 (1), p.1-1, Article 1

2021

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Heterogeneity of Acquired Resistance to Anti-EGFR Monoclonal Antibodies in Patients with Metastatic Colorectal Cancer

Clinical cancer research, 2017-05, Vol.23 (10), p.2414-2422

2017

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Comorbidity and Overlaps between Autism Spectrum and Borderline Personality Disorder: State of the Art

Brain sciences, 2023-05, Vol.13 (6), p.862

2023

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Pharyngo-oesophageal perforation following anterior cervical discectomy and fusion: management and results

European journal of cardio-thoracic surgery, 2017-01, Vol.51 (1), p.160-168

2017

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Real-World Analysis on the Characteristics, Therapeutic Paths and Economic Burden for Patients Treated for Glaucoma in Italy

Healthcare (Basel), 2023-02, Vol.11 (5), p.635

2023

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The Effects of Physical Inactivity and Exercise at Home in Young Patients with Congenital Heart Disease during the COVID-19 Pandemic

International journal of environmental research and public health, 2021-09, Vol.18 (19), p.10065

2021

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Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes?

Alternative Splicing of ALS Genes: Misregulation and Potential Therapies

Early Behavioral Alterations and Increased Expression of Endogenous Retroviruses Are Inherited Across Generations in Mice Prenatally Exposed to Valproic Acid

Association between HMGCR, CRP, and CETP gene polymorphisms and metabolic/inflammatory serum profile in healthy adolescents

LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy

Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions

Algerian Olive Germplasm and Its Relationships with the Central-Western Mediterranean Varieties Contributes to Clarify Cultivated Olive Diversification

Comparative genomic analysis reveals a critical role of de novo nucleotide biosynthesis for Saccharomyces cerevisiae virulence

Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges

SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines

Investigation of the dominance behavior of Saccharomyces cerevisiae strains during wine fermentation

Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis

LPL, FNDC5 and PPAR[gamma] gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Individual Oligogenic Background in p.D91A- SOD1 Amyotrophic Lateral Sclerosis Patients

CIELab parameters of white dehydrated grapes as quality markers according to chemical composition, volatile profile and mechanical properties

A novel S379A TARDBP mutation associated to late-onset sporadic ALS

Comparative Genomic Analysis Reveals a Critical Role of De Novo Nucleotide Biosynthesis for Saccharomyces cerevisiae Virulence: e0122382

Neutralization of IL‐17 rescues amyloid‐β‐induced neuroinflammation and memory impairment

Clinical, pathological, and PAM50 gene expression features of HER2-low breast cancer

Heterogeneity of Acquired Resistance to Anti-EGFR Monoclonal Antibodies in Patients with Metastatic Colorectal Cancer

Comorbidity and Overlaps between Autism Spectrum and Borderline Personality Disorder: State of the Art

Pharyngo-oesophageal perforation following anterior cervical discectomy and fusion: management and results

Real-World Analysis on the Characteristics, Therapeutic Paths and Economic Burden for Patients Treated for Glaucoma in Italy

The Effects of Physical Inactivity and Exercise at Home in Young Patients with Congenital Heart Disease during the COVID-19 Pandemic

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