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Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.

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Title: Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.
Authors: Zanotti S; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy., Magri F; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy., Salani S; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Napoli L; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy., Ripolone M; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy., Pagliarani S; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Ronchi D; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy., Fortunato F; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy., Ciscato P; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy., Cassandrini D; Unit, University Hospital, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Fattori F; IRCCS Bambino Gesù Children Hospital, Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Rome, Italy., D'Angelo MG; IRCCS Eugenio Medea, Neurorehabilitation Dept, Unit of Rare Diseases of the Central and Peripheral Nervous System, Bosisio Parini, Lecco, Italy., Albamonte E; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli' and Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Sciacco M; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy., Corti S; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy., Comi GP; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy., Piga D; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy. daniela.piga@policlinico.mi.it.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 609-618. Date of Electronic Publication: 2026 Mar 18.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.
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  Data: <searchLink fieldCode="AU" term="%22Zanotti+S%22">Zanotti S</searchLink>; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Magri+F%22">Magri F</searchLink>; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Salani+S%22">Salani S</searchLink>; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Napoli+L%22">Napoli L</searchLink>; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Ripolone+M%22">Ripolone M</searchLink>; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Pagliarani+S%22">Pagliarani S</searchLink>; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Ronchi+D%22">Ronchi D</searchLink>; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Fortunato+F%22">Fortunato F</searchLink>; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Ciscato+P%22">Ciscato P</searchLink>; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Cassandrini+D%22">Cassandrini D</searchLink>; Unit, University Hospital, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.<br /><searchLink fieldCode="AU" term="%22Fattori+F%22">Fattori F</searchLink>; IRCCS Bambino Gesù Children Hospital, Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22D'Angelo+MG%22">D'Angelo MG</searchLink>; IRCCS Eugenio Medea, Neurorehabilitation Dept, Unit of Rare Diseases of the Central and Peripheral Nervous System, Bosisio Parini, Lecco, Italy.<br /><searchLink fieldCode="AU" term="%22Albamonte+E%22">Albamonte E</searchLink>; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Nigro+V%22">Nigro V</searchLink>; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli' and Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Sciacco+M%22">Sciacco M</searchLink>; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Corti+S%22">Corti S</searchLink>; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Comi+GP%22">Comi GP</searchLink>; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Piga+D%22">Piga D</searchLink>; Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy. daniela.piga@policlinico.mi.it.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 609-618. <i>Date of Electronic Publication: </i>2026 Mar 18.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE
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