Enrica Marchionni

Rome, Italy

Last Updated: 09/26/2026

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Found 38 publications

Frailty in elderly with a rare genetic disease: a geriatric score analysis in C1 inhibitor Hereditary Angioedema.

Frailty in elderly with a rare genetic disease: a geriatric score analysis in C1 inhibitor Hereditary Angioedema.

Journal: Frontiers in medicine

Published: March 20, 2026

The novel (TCTG)n motif in CNBP expanded alleles: composition, dynamics and genotype-phenotype correlation in Myotonic dystrophy type 2 (DM2).

The novel (TCTG)n motif in CNBP expanded alleles: composition, dynamics and genotype-phenotype correlation in Myotonic dystrophy type 2 (DM2).

Journal: Human genomics

Published: December 22, 2025

Clinical, Biological, and Functional Connectivity Profile of Patients With De Novo Parkinson Disease Who Are APOE ε4 Carriers.

Clinical, Biological, and Functional Connectivity Profile of Patients With De Novo Parkinson Disease Who Are APOE ε4 Carriers.

Journal: Neurology

Published: December 05, 2025

Longitudinal Multimodal Assessment of Structure and Function in INPP5E-Related Retinopathy.

Longitudinal Multimodal Assessment of Structure and Function in INPP5E-Related Retinopathy.

Journal: Genes

Published: November 09, 2025

An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic.

An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic.

Journal: Annals of clinical and translational neurology

Published: October 21, 2025

A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies.

A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies.

Journal: Neurogenetics

Published: August 01, 2025

The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies.

The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies.

Journal: Journal of cardiovascular development and disease

Published: June 09, 2025

Serum HDL-cholesterol is associated with the clinical-biological profile of early-stage Parkinson's disease patients independently of APOE.

Serum HDL-cholesterol is associated with the clinical-biological profile of early-stage Parkinson's disease patients independently of APOE.

Journal: Neurobiology of aging

Published: March 18, 2025

Arrhythmogenic Cardiomyopathy PKP2-Related: Clinical and Functional Characterization of a Pathogenic Variant Detected in Two Italian Families.

Arrhythmogenic Cardiomyopathy PKP2-Related: Clinical and Functional Characterization of a Pathogenic Variant Detected in Two Italian Families.

Journal: Genes

Published: February 28, 2025

Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability.

Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability.

Journal: Orphanet journal of rare diseases

Published: February 14, 2025

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.

Journal: European journal of human genetics : EJHG

Published: December 31, 2024

Donor selection for allogeneic hematopoietic cell transplant in a patient with JAK2 V617F primary myelofibrosis and SH2B3/LNK germline variant.

Donor selection for allogeneic hematopoietic cell transplant in a patient with JAK2 V617F primary myelofibrosis and SH2B3/LNK germline variant.

Journal: Annals of hematology

Published: September 12, 2024

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Last Updated: 09/26/2026