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Prevalence of hereditary transthyretin amyloidosis in CIDP patients with red flags: a multicenter genetic screening and misdiagnosis analysis.

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Title: Prevalence of hereditary transthyretin amyloidosis in CIDP patients with red flags: a multicenter genetic screening and misdiagnosis analysis.
Authors: Doneddu PE; Neuromuscular and Neuroimmunology Unit, Neuromuscular and Neuroimmunology Service, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089, Milan, Rozzano, Italy.; Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, 20072, Milan, Italy., Moretti G; Neuromuscular and Neuroimmunology Unit, Neuromuscular and Neuroimmunology Service, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089, Milan, Rozzano, Italy., Di Stefano V; Regional Center for Diagnosis and Treatment of Neuromuscular Disease, Department of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, Palermo, Italy., Falzone Y; Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy., Leonardi L; Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, 00189, Rome, Italy., Luigetti M; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.; Dipartimento Di Neuroscienze, Organi Di Senso E Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168, Rome, Italy., Mataluni G; Area Neuropatie Infiammatorie Immuno-mediate del Centro di riferimento per le Malattie Neurologiche, Neuromuscolari E Distrofie Miotoniche Rare, Policlinico Tor Vergata, Rome, Italy., Gentile L; Department of Clinical and Experimental Medicine, Unit of Neurology, University of Messina, Messina, Italy., Carpo M; ASST Bergamo Ovest-Ospedale Treviglio, Treviglio, Italy., Barilaro A; AOU Careggi and Department of Neurosciences, Drug and Child Health, University of Florence, Florence, Italy., Filosto M; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy.; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Vegezzi E; Neurooncology and Neuroinflammation Unit, IRCCS Mondino Foundation, Pavia, Italy., Inghilleri M; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; IRCCS Neuromed, Pozzilli, Italy., Canale F; Division of Neurology and Neurophysiopathology, Department of Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Brighina F; Regional Center for Diagnosis and Treatment of Neuromuscular Disease, Department of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, Palermo, Italy., Matà S; Dipartimento Neuromuscoloscheletrico E Degli Organi Di Senso, Neurology Unit, Careggi University Hospital, Florence, Italy., Ratti A; Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy., Forcina F; Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, 00189, Rome, Italy., Siconolfi G; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Lozi C; Area Neuropatie Infiammatorie Immuno-mediate del Centro di riferimento per le Malattie Neurologiche, Neuromuscolari E Distrofie Miotoniche Rare, Policlinico Tor Vergata, Rome, Italy., Mazzeo A; Department of Clinical and Experimental Medicine, Unit of Neurology, University of Messina, Messina, Italy., Mollo U; AOU Careggi and Department of Neurosciences, Drug and Child Health, University of Florence, Florence, Italy., Risi B; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy., Cosentino G; Department of Brain and Behavioral Sciences, University of Pavia, Via Bassi 21, 27100, Pavia, Italy.; Translational Neurophysiology Research Section, IRCCS Mondino Foundation, 27100, Pavia, Italy., Moret F; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy., Fasano C; AOU Careggi and Department of Neurosciences, Drug and Child Health, University of Florence, Florence, Italy., Todisco V; Division of Neurology and Neurophysiopathology, Department of Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Russo M; Department of Clinical and Experimental Medicine, University of Messina, Policlinico 'G. Martino', Via Consolare Valeria N°1, Messina, Italy., Nobile-Orazio E; Neuromuscular and Neuroimmunology Unit, Neuromuscular and Neuroimmunology Service, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089, Milan, Rozzano, Italy. eduardo.nobile@unimi.it.; Department of Medical Biotechnology and Translational Medicine, Milan University, 20133, Milano, Italy. eduardo.nobile@unimi.it.
Source: Journal of neurology [J Neurol] 2025 Jul 16; Vol. 272 (8), pp. 515. Date of Electronic Publication: 2025 Jul 16.
Publication Type: Journal Article; Multicenter Study
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
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  Data: Prevalence of hereditary transthyretin amyloidosis in CIDP patients with red flags: a multicenter genetic screening and misdiagnosis analysis.
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  Data: <searchLink fieldCode="AU" term="%22Doneddu+PE%22">Doneddu PE</searchLink>; Neuromuscular and Neuroimmunology Unit, Neuromuscular and Neuroimmunology Service, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089, Milan, Rozzano, Italy.; Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, 20072, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Moretti+G%22">Moretti G</searchLink>; Neuromuscular and Neuroimmunology Unit, Neuromuscular and Neuroimmunology Service, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089, Milan, Rozzano, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Stefano+V%22">Di Stefano V</searchLink>; Regional Center for Diagnosis and Treatment of Neuromuscular Disease, Department of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, Palermo, Italy.<br /><searchLink fieldCode="AU" term="%22Falzone+Y%22">Falzone Y</searchLink>; Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Leonardi+L%22">Leonardi L</searchLink>; Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, 00189, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Luigetti+M%22">Luigetti M</searchLink>; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.; Dipartimento Di Neuroscienze, Organi Di Senso E Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Mataluni+G%22">Mataluni G</searchLink>; Area Neuropatie Infiammatorie Immuno-mediate del Centro di riferimento per le Malattie Neurologiche, Neuromuscolari E Distrofie Miotoniche Rare, Policlinico Tor Vergata, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Gentile+L%22">Gentile L</searchLink>; Department of Clinical and Experimental Medicine, Unit of Neurology, University of Messina, Messina, Italy.<br /><searchLink fieldCode="AU" term="%22Carpo+M%22">Carpo M</searchLink>; ASST Bergamo Ovest-Ospedale Treviglio, Treviglio, 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="%22Filosto+M%22">Filosto M</searchLink>; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy.; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Vegezzi+E%22">Vegezzi E</searchLink>; Neurooncology and Neuroinflammation Unit, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Inghilleri+M%22">Inghilleri M</searchLink>; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; IRCCS Neuromed, Pozzilli, Italy.<br /><searchLink fieldCode="AU" term="%22Canale+F%22">Canale F</searchLink>; Division of Neurology and Neurophysiopathology, Department of Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Brighina+F%22">Brighina F</searchLink>; Regional Center for Diagnosis and Treatment of Neuromuscular Disease, Department of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, Palermo, Italy.<br /><searchLink fieldCode="AU" term="%22Matà+S%22">Matà S</searchLink>; Dipartimento Neuromuscoloscheletrico E Degli Organi Di Senso, Neurology Unit, Careggi University Hospital, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Ratti+A%22">Ratti A</searchLink>; Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Forcina+F%22">Forcina F</searchLink>; Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, 00189, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Siconolfi+G%22">Siconolfi G</searchLink>; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Lozi+C%22">Lozi C</searchLink>; Area Neuropatie Infiammatorie Immuno-mediate del Centro di riferimento per le Malattie Neurologiche, Neuromuscolari E Distrofie Miotoniche Rare, Policlinico Tor Vergata, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Mazzeo+A%22">Mazzeo A</searchLink>; Department of Clinical and Experimental Medicine, Unit of Neurology, University of Messina, Messina, Italy.<br /><searchLink fieldCode="AU" term="%22Mollo+U%22">Mollo U</searchLink>; AOU Careggi and Department of Neurosciences, Drug and Child Health, University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Risi+B%22">Risi B</searchLink>; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Cosentino+G%22">Cosentino G</searchLink>; Department of Brain and Behavioral Sciences, University of Pavia, Via Bassi 21, 27100, Pavia, Italy.; Translational Neurophysiology Research Section, IRCCS Mondino Foundation, 27100, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Moret+F%22">Moret F</searchLink>; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Fasano+C%22">Fasano C</searchLink>; AOU Careggi and Department of Neurosciences, Drug and Child Health, University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Todisco+V%22">Todisco V</searchLink>; Division of Neurology and Neurophysiopathology, Department of Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Russo+M%22">Russo M</searchLink>; Department of Clinical and Experimental Medicine, University of Messina, Policlinico 'G. Martino', Via Consolare Valeria N°1, Messina, Italy.<br /><searchLink fieldCode="AU" term="%22Nobile-Orazio+E%22">Nobile-Orazio E</searchLink>; Neuromuscular and Neuroimmunology Unit, Neuromuscular and Neuroimmunology Service, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089, Milan, Rozzano, Italy. eduardo.nobile@unimi.it.; Department of Medical Biotechnology and Translational Medicine, Milan University, 20133, Milano, Italy. eduardo.nobile@unimi.it.
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