Genotype-phenotype correlations and protein domain-level predictors of cerebrovascular malformations in hereditary hemorrhagic telangiectasia.

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Title: Genotype-phenotype correlations and protein domain-level predictors of cerebrovascular malformations in hereditary hemorrhagic telangiectasia.
Authors: Sturiale CL; Department of Neurosurgery, Institute of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, L.go A. Gemelli 8, 00168, Rome, Italy. cropcircle.2000@virgilio.it., Cocilovo F; Department of Neurosurgery, Institute of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, L.go A. Gemelli 8, 00168, Rome, Italy., Trevisi G; Department of Neurosciences, Imaging and Clinical Sciences, G. D'Annunzio University, Chieti-Pescara, Italy., Palermo M; Department of Neurosurgery, Institute of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, L.go A. Gemelli 8, 00168, Rome, Italy., Cordisco EL; UOC Genetica MedicaDipartimento di Scienze della Vita e Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy., Di Martino L; Department of Translational Medicine and Surgery, Fondazione Policlinico Universitario A. Gemelli IRCCS Università Cattolica del Sacro Cuore, 00168, Rome, Italy.; Unit of Internal Medicine, Cristo Re Hospital, 00167, Rome, Italy., Sonnini E; UOC Genetica MedicaDipartimento di Scienze della Vita e Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy., Albanese A; Department of Neurosurgery, Institute of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, L.go A. Gemelli 8, 00168, Rome, Italy., Doglietto F; Department of Neurosurgery, Institute of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, L.go A. Gemelli 8, 00168, Rome, Italy., Pola R; Department of Aging, Orthopedic, and Rheumatologic Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Gaetani E; Department of Translational Medicine and Surgery, Fondazione Policlinico Universitario A. Gemelli IRCCS Università Cattolica del Sacro Cuore, 00168, Rome, Italy.; Unit of Internal Medicine, Cristo Re Hospital, 00167, Rome, Italy.
Corporate Authors: Gemelli HHT study group
Source: Journal of neurology [J Neurol] 2026 Mar 31; Vol. 273 (4). Date of Electronic Publication: 2026 Mar 31.
Publication Type: Journal Article
Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1432-1459
DOI:10.1007/s00415-026-13777-2