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Martina Rimoldi

4PUBLICATIONS

16CO-AUTHORS

Neurology and neuromuscular diseasesMedical biochemistry - amino acids and metabolitesEpigenetics (incl. genome methylation and epigenomics)Cancer genetics

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Publications (4)

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|Sep 03, 2025

Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy.

Martina Rimoldi, Francesca Magri, Megi Meneri

|Dec 06, 2024

Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.

Martina Rimoldi, Sabrina Lucchiari, Serena Pagliarani

|Dec 23, 2023

Lafora Disease: A Case Report and Evolving Treatment Advancements.

Carola Rita Ferrari Aggradi, Martina Rimoldi, Gloria Romagnoli

|Dec 23, 2023

Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond <i>BRCA1/2</i>.

Sara Di Rado, Roberta Giansante, Michela Cicirelli

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Frequent Collaborators

2 joint publications

Stefania Corti

2 joint publications

Elena Abati

2 joint publications

Giacomo Pietro Comi

1 joint publications

Michela Ripolone

1 joint publications

Laura Napoli

1 joint publications

Sabrina Lucchiari

1 joint publications

Serena Pagliarani

1 joint publications

Giovanni Meola

1 joint publications

Francesca Magri

1 joint publications

Megi Meneri

Frequent Collaborators

2 joint publications

Stefania Corti

2 joint publications

Elena Abati

2 joint publications

Giacomo Pietro Comi

1 joint publications

Michela Ripolone

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