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Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran-Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly).

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Title: Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran-Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly).
Authors: Ceccanti M; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Guaraldi P; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Bologna, Italy., Romano A; Dipartimento Di Neuroscienze, Organi Di Senso E Torace, UOC Neurologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli, 8, Rome, Italy., Antonini G; Department of Neurology, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome and UniCamillus-Saint Camillus International University of Health Sciences, Rome, Italy., Barilaro A; AOU Careggi and Department of Neurosciences, Drug and Child Health, University of Florence, Florence, Italy., Briani C; Neurology Unit, Department of Neuroscience, University of Padua, Padua, Italy., Burattini M; Neurology Unit, Ospedale Santa Croce Di Fano, Fano, Italy., Gianoli M; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Bologna, Italy., Carlini G; Neurological Clinic, Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy., Cianci V; Neurology Unit, Great Metropolitan Hospital 'Bianchi Melacrino Morelli', Reggio Calabria, Italy., Dossi MC; Department of Neurology, Infermi Hospital, Rimini, Italy., Di Lisi D; Division of Cardiology, University Hospital Paolo Giaccone, Palermo, Italy., Di Muzio A; Department of Neuroscience, Imaging and Clinical Sciences, 'G. D'annunzio' University, Chieti, Italy., Ratti A; Division of Neuroscience, Department of Neurology, Institute of Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy., Filosto M; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy., Gasverde S; Asl TO4, Ciriè, Italy., Gemelli C; IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Gentile L; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Goglia M; Neuromuscular Diseases Unit, Department of Systems Medicine, Tor Vergata University of Rome, Rome, Italy., Leonardi L; Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'andrea Hospital, Rome, Italy., Longhi S; Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Lotti A; AOU Careggi and Department of Neurosciences, Drug and Child Health, University of Florence, Florence, Italy., Manganelli F; Department of Neuroscience, Reproductive and Odontostomatological Science, University of Naples 'Federico II', Naples, Italy., Mazzeo A; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Augello SM; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Milella G; Neurology Unit, Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari Aldo Moro, Bari, Italy., Novo G; Division of Cardiology, University Hospital Paolo Giaccone, Palermo, Italy., Pareyson D; S.C. Malattie Neurologiche Rare, Dipartimento Di Neuroscienze Cliniche, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Fenu S; S.C. Malattie Neurologiche Rare, Dipartimento Di Neuroscienze Cliniche, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Palumbo G; Department of Neuroscience, Reproductive and Odontostomatological Science, University of Naples 'Federico II', Naples, Italy., Petrelli C; Neurology Unit, AV3, ASUR Marche, Macerata, Macerata, Italy., Poli L; Unit of Neurology, ASST Spedali Civili, Brescia, Italy., Pradotto LG; Department of Neuroscience 'Rita Levi Montalcini', University of Turin, Turin, Italy.; IRCCS Istituto Auxologico Italiano, Milan, Italy., Russo M; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Salvalaggio A; Neurology Unit, Department of Neuroscience, University of Padua, Padua, Italy., Sciarrone MA; Department of Neuroscience, Università Cattolica Del Sacro Cuore, Rome, Italy., Sellitti L; IRCCS Istituto Auxologico Italiano, Milan, Italy., Tagliapietra M; Department of Neuroscience, Biomedicina E Movimento, Università Di Verona, Verona, Italy., Tozza S; Department of Neuroscience, Reproductive and Odontostomatological Science, University of Naples 'Federico II', Naples, Italy., Castiglia M; Department of Neuroscience, Reproductive and Odontostomatological Science, University of Naples 'Federico II', Naples, Italy., Turri M; Dipartimento Di Neurologia/Stroke Unit, Ospedale Di Bolzano, Bolzano, Italy., Verriello L; Neurology Unit, Department of Neurosciences, University Hospital Santa Maria Della Misericordia, Udine, Italy., Chimenti C; Department of Internal Clinical, Anesthesiological and Cardiovascular Sciences, 'Sapienza' University of Rome, Rome, Italy., Vitali F; Department of Neuroscience, Università Cattolica Del Sacro Cuore, Rome, Italy., Brighina F; Department of Biomedicine, Neuroscience and Advanced Diagnostics (BIND), University of Palermo, Palermo, Italy., Rini N; Department of Biomedicine, Neuroscience and Advanced Diagnostics (BIND), University of Palermo, Palermo, Italy., Inghilleri M; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; IRCCS Neuromed, Pozzilli, Italy., D'Angelo R; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Bologna, Italy., Abelardo D; Department of Medical and Surgical Sciences, Magna Græcia University of Catanzaro, Catanzaro, Italy.; Regional Epilepsy Centre, Great Metropolitan 'Bianchi-Melacrino-Morelli Hospital', Reggio Calabria, Italy., Cambieri C; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Libonati L; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Moret F; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Luigetti M; Dipartimento Di Neuroscienze, Organi Di Senso E Torace, UOC Neurologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli, 8, Rome, Italy.; Department of Neuroscience, Università Cattolica Del Sacro Cuore, Rome, Italy., Di Stefano V; Department of Biomedicine, Neuroscience and Advanced Diagnostics (BIND), University of Palermo, Palermo, Italy.
Source: European journal of neurology [Eur J Neurol] 2026 Jun; Vol. 33 (6), pp. e70657.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran-Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly).
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  Data: <searchLink fieldCode="AU" term="%22Ceccanti+M%22">Ceccanti M</searchLink>; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Guaraldi+P%22">Guaraldi P</searchLink>; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Romano+A%22">Romano A</searchLink>; Dipartimento Di Neuroscienze, Organi Di Senso E Torace, UOC Neurologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli, 8, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Antonini+G%22">Antonini G</searchLink>; Department of Neurology, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome and UniCamillus-Saint Camillus International University of Health Sciences, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Barilaro+A%22">Barilaro A</searchLink>; AOU Careggi and Department of Neurosciences, Drug and Child Health, University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Briani+C%22">Briani C</searchLink>; Neurology Unit, Department of Neuroscience, University of Padua, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Burattini+M%22">Burattini M</searchLink>; Neurology Unit, Ospedale Santa Croce Di Fano, Fano, Italy.<br /><searchLink fieldCode="AU" term="%22Gianoli+M%22">Gianoli M</searchLink>; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Carlini+G%22">Carlini G</searchLink>; Neurological Clinic, Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy.<br /><searchLink fieldCode="AU" term="%22Cianci+V%22">Cianci V</searchLink>; Neurology Unit, Great Metropolitan Hospital 'Bianchi Melacrino Morelli', Reggio Calabria, Italy.<br /><searchLink fieldCode="AU" term="%22Dossi+MC%22">Dossi MC</searchLink>; Department of Neurology, Infermi Hospital, Rimini, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Lisi+D%22">Di Lisi D</searchLink>; Division of Cardiology, University Hospital Paolo Giaccone, Palermo, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Muzio+A%22">Di Muzio A</searchLink>; Department of Neuroscience, Imaging and Clinical Sciences, 'G. 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          Name:
            NameFull: Moret F
      – PersonEntity:
          Name:
            NameFull: Luigetti M
      – PersonEntity:
          Name:
            NameFull: Di Stefano V
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 06
              Text: 2026 Jun
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1468-1331
          Numbering:
            – Type: volume
              Value: 33
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: European journal of neurology
              Type: main
ResultId 1