Marco Spinazzi

9PUBLICATIONS
70CO-AUTHORS
Animal growth and developmentMedical mycologyGene mappingNeurology and neuromuscular diseasesMedical biochemistry - proteins and peptides (incl. medical proteomics)
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Publications (9)

|Jul 16, 2026
Real-Life Effectiveness After Switching to Avalglucosidase Alfa in Late-Onset Pompe Disease Patients Worsening on Alglucosidase Alfa Therapy: A French Cohort Study.

|Jun 23, 2026
Relative frequencies of muscle specific kinase antibody myasthenia in 46 centres worldwide.

|Mar 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Wouter Steyaert, Lydia Sagath, German Demidov

|Jan 06, 2025
Myotilin gene duplication causing late-onset myotilinopathy.

Marco Spinazzi, Marco Savarese, Franck Letournel

|Sep 13, 2024
Correction: Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis.

Enrico Radaelli, Charles-Antoine Assenmacher, Jillian Verrelle

|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Wouter Steyaert, Lydia Sagath, German Demidov

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Frequent Collaborators

3 joint publications

Marco Savarese

2 joint publications

Matthis Synofzik

2 joint publications

Lisenka E L M Vissers

2 joint publications

Enrico Bugiardini