Marika Pane
7PUBLICATIONS
70CO-AUTHORS

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Publications (7)
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|Oct 29, 2025
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.Fernanda Fortunato, Laura Fiocco, Alice Margutti
|Aug 28, 2025
Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1.Federico Calà, Elisabetta Sforza, Lucia D'Alatri
|Jan 20, 2025
Pregnancy in the Era of Disease-Modifying Therapies for Spinal Muscular Atrophy: Considerations From a Case Report.Gabriele Vadi, Sara Loprieno, Francesca Torri
|Nov 20, 2023
Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes.Roberta Onesimo, Elisabetta Sforza, Elizabeth Katherine Anna Triumbari
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Frequent Collaborators
6 joint publications
Eugenio Mercuri
3 joint publications
Giorgia Coratti
3 joint publications
Enrico Bertini
3 joint publications
Roberta Onesimo
2 joint publications
Giuseppe Zampino
2 joint publications
Sonia Messina
2 joint publications
Elisabetta Sforza
2 joint publications
Donato Rigante
2 joint publications
Valentina Giorgio
2 joint publications
Chiara Leoni