emiliano giardina

Italy

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Articles (10)

Year:

2024

Year:

2023

Year:

2023

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2023

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2023

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2023

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2023

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2023

Year:

2023

Year:

2023

Collaborators (2)

Benedetto Falsini

Professor

Università Cattolica del Sacro Cuore

ITALY

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Giorgio Tasca

Clinical Prof of Neuromuscular Science

Newcastle University

UNITED KINGDOM

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emiliano giardina

Research Interests

Explore related searches

Contact this professor

Articles (10)

Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families

A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy

Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling

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

Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report

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

Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level

Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study

Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series

Long-noncoding RNAs as epigenetic regulators in neurodegenerative diseases

Collaborators (2)

Benedetto Falsini

Giorgio Tasca

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