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Maria Grazia Pomponi

4PUBLICATIONS

32CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesFlight dynamicsCancer diagnosis

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Publications (4)

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|Apr 26, 2025

Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in <i>PTEN</i> and <i>PPP2R5D</i> Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.

Federica Francesca L'Erario, Annalisa Gazzellone, Ilaria Contaldo

|Feb 26, 2025

Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.

Jacopo Sartorelli, Maria Grazia Pomponi, Giacomo Garone

|Jul 09, 2020

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.

Massimo Santoro, Alessia Perna, Piergiorgio La Rosa

|Jul 12, 2019

Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?

Alessandro Vaisfeld, Martina Calicchia, Maria Grazia Pomponi

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Frequent Collaborators

2 joint publications

Pietro Chiurazzi

1 joint publications

Alessandro Vaisfeld

1 joint publications

Martina Calicchia

1 joint publications

Emanuela Lucci-Cordisco

1 joint publications

Luca Reggiani-Bonetti

1 joint publications

Maurizio Genuardi

1 joint publications

Massimo Santoro

1 joint publications

Alessia Perna

1 joint publications

Piergiorgio La Rosa

1 joint publications

Sara Petrillo

Frequent Collaborators

2 joint publications

Pietro Chiurazzi

1 joint publications

Alessandro Vaisfeld

1 joint publications

Martina Calicchia

1 joint publications

Emanuela Lucci-Cordisco

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