Disease Progression in Charcot‐Marie‐Tooth Disease Type <scp>4B</scp> (<scp>CMT4B</scp>) Associated With Mutations in Myotubularin‐Related Proteins 2 and 13
This international collective effort enabled collection of relevant data for characterizing natural history and estimating disease progression of CMT4B1/CMT4B2 ultrarare diseases, aiming at improving their management and paving the way for designing future clinical trials.
Authors
- Arman Çakar (ORCID: https://orcid.org/0000-0002-8129-4172)
- Alessandra Bolino (ORCID: https://orcid.org/0000-0002-8980-4878)
- Alessandro Bertini (ORCID: https://orcid.org/0009-0002-8914-1311)
- Stefano Tozza (ORCID: https://orcid.org/0000-0002-9672-4577)
- Steven S. Scherer (ORCID: https://orcid.org/0000-0002-3900-2367)
- Mounia Bellatache
- Stefano Carlo Previtali (ORCID: https://orcid.org/0000-0003-2546-4357)
- Chiara Pisciotta (ORCID: https://orcid.org/0000-0002-3850-076X)
- Paola Valentino (ORCID: https://orcid.org/0000-0001-7863-9195)
- Tanya Stojkovic (ORCID: https://orcid.org/0000-0002-4054-2838)
- Nicole Kressin (ORCID: https://orcid.org/0009-0008-7070-8131)
- Mary M. Reilly (ORCID: https://orcid.org/0000-0003-0686-905X)
- Mario Sabatelli (ORCID: https://orcid.org/0000-0001-6635-4985)
- Michael E. Shy (ORCID: https://orcid.org/0000-0001-8460-6971)
- Marco Luigetti (ORCID: https://orcid.org/0000-0001-7539-505X)
- Sonia Nouioua
- Rita Horváth (ORCID: https://orcid.org/0000-0002-9841-170X)
- Mériem Tazir (ORCID: https://orcid.org/0000-0003-1735-7471)
- Kevin R. Ward (ORCID: https://orcid.org/0000-0001-5939-409X)
- Davide Pareyson (ORCID: https://orcid.org/0000-0001-6854-765X)
- Matilde Laurá (ORCID: https://orcid.org/0000-0001-8264-8676)
- Antonio Gambardella (ORCID: https://orcid.org/0000-0001-7384-3074)
- Esra Battaloğlu (ORCID: https://orcid.org/0000-0003-3131-6123)
- Alberto A. Zambon (ORCID: https://orcid.org/0000-0002-6539-5360)
- Sabrina Sacconi (ORCID: https://orcid.org/0000-0002-0246-1455)
- Shahram Attarian (ORCID: https://orcid.org/0000-0002-7211-4694)
- Richard A. Lewis (ORCID: https://orcid.org/0000-0002-1140-4575)
- Fiore Manganelli
- David N. Herrmann
- Julian Blake
- Yeşim Parman (ORCID: https://orcid.org/0000-0001-9793-6590)
Institutions
- Università Cattolica del Sacro Cuore (IT)
- Cedars-Sinai Medical Center (US)
- Vita-Salute San Raffaele University (IT)
- University of Algiers Benyoucef Benkhedda (DZ)
- Université Côte d'Azur (FR)
- Aix-Marseille Université (FR)
- University of Cambridge (GB)
- Norfolk and Norwich University Hospital (GB)
- University of Iowa Hospitals and Clinics (US)
- Agostino Gemelli University Polyclinic (IT)
- Centre Hospitalier Universitaire de Nice (FR)
- Magna Graecia University (IT)
- Sorbonne Université (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Centro Clinico Nemo (IT)
- IRCCS Ospedale San Raffaele (IT)
- National Hospital for Neurology and Neurosurgery (GB)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- Boğaziçi University (TR)
- University College London (GB)
- University of Rochester (US)
- Istanbul University (TR)
- University of Naples Federico II (IT)
- University of Pennsylvania (US)
Publication Details
- Journal
- European Journal of Neurology
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1111/ene.70084
- Citations
- 1
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.91
Funders
- Charcot-Marie-Tooth Association
- Sanofi
- Muscular Dystrophy Association
- Biogen
- Alnylam Pharmaceuticals
- Rare Diseases Clinical Research Network
- Ministero della Salute
- National Center for Advancing Translational Sciences