Marco Savarese

33PUBLICATIONS
183CO-AUTHORS
Genetically modified field crops and pastureNeurology and neuromuscular diseasesMetabolic medicineGene mappingCancer diagnosis
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Publications (33)

|Jul 24, 2026
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

|Feb 12, 2026
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Nov 27, 2025
Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).

Angèle N Merlet, Emmanuelle Lacène, Isabelle Nelson

|Sep 30, 2025
Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies.

David Gómez-Andrés, Laura Costa-Comellas, Jordi Díaz-Manera

|Jul 16, 2025
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Jun 14, 2025
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu

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Frequent Collaborators

9 joint publications

Bjarne Udd

8 joint publications

Per-Harald Jonson

8 joint publications

Mridul Johari

6 joint publications

Giorgio Tasca