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Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13.

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Title: Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13.
Authors: Bertini A; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, England., Pisciotta C; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Previtali SC; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Neurology Unit, IRCCS Ospedale San Raffaele, Milan, Italy., Parman Y; Neuromuscular Unit, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Battaloglu E; Bogazici University, Department of Molecular Biology and Genetics, Istanbul, Turkey., Laurà M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, England., Blake J; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, England.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norfolk, UK., Sacconi S; Université Côte d'Azur, Service Système Nerveux Périphérique, Muscle et SLA, Centre Hospitalier Universitaire de Nice, Nice, France., Attarian S; Reference Center for Neuromuscular Disorders and ALS, CHU la Timone, Aix-Marseille University, Marseille, France., Stojkovic T; APHP, Sorbonne Université, Hôpital Pitié-Salpêtrière, Centre de référence Des Maladies Neuromusculaires Nord/Est/Ile de France, Paris, France., Bellatache M; Department of Neurology, Neuroscience Research Laboratory, Benyoucef Benkheda University, Algiers, Algeria., Nouioua S; Department of Neurology, Neuroscience Research Laboratory, Benyoucef Benkheda University, Algiers, Algeria., Tazir M; Department of Neurology, Neuroscience Research Laboratory, Benyoucef Benkheda University, Algiers, Algeria., Cakar A; Neuromuscular Unit, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Gambardella A; Department of Neurology, Università Magna Graecia di Catanzaro, Catanzaro, Italy., Valentino P; Department of Neurology, Università Magna Graecia di Catanzaro, Catanzaro, Italy., Lewis RA; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California, USA., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Zambon AA; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Neurology Unit, IRCCS Ospedale San Raffaele, Milan, Italy., Sabatelli M; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Centro Clinico Nemo Adulti Rome, Rome, Italy., Luigetti M; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, UOC Neurologia, Rome, Italy.; Università Cattolica del Sacro Cuore, Sede di Roma, Rome, Italy., Tozza S; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Naples, Italy., Manganelli F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Naples, Italy., Herrmann DN; Department of Neurology, University of Rochester, Rochester, New York, USA., Scherer SS; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Kressin N; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Ward K; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Bolino A; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy., Shy ME; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Pareyson D; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Corporate Authors: CMT4B Study Group, Inherited Neuropathy Consortium
Source: European journal of neurology [Eur J Neurol] 2025 Feb; Vol. 32 (2), pp. e70084.
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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  Data: Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13.
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  Data: <searchLink fieldCode="AU" term="%22Bertini+A%22">Bertini A</searchLink>; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Reilly+MM%22">Reilly MM</searchLink>; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, England.<br /><searchLink fieldCode="AU" term="%22Pisciotta+C%22">Pisciotta C</searchLink>; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Previtali+SC%22">Previtali SC</searchLink>; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Neurology Unit, IRCCS Ospedale San Raffaele, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Parman+Y%22">Parman Y</searchLink>; Neuromuscular Unit, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Battaloglu+E%22">Battaloglu E</searchLink>; Bogazici University, Department of Molecular Biology and Genetics, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Laurà+M%22">Laurà M</searchLink>; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, England.<br /><searchLink fieldCode="AU" term="%22Blake+J%22">Blake J</searchLink>; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, England.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norfolk, UK.<br /><searchLink fieldCode="AU" term="%22Sacconi+S%22">Sacconi S</searchLink>; Université Côte d'Azur, Service Système Nerveux Périphérique, Muscle et SLA, Centre Hospitalier Universitaire de Nice, Nice, France.<br /><searchLink fieldCode="AU" term="%22Attarian+S%22">Attarian S</searchLink>; Reference Center for Neuromuscular Disorders and ALS, CHU la Timone, Aix-Marseille University, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Stojkovic+T%22">Stojkovic T</searchLink>; APHP, Sorbonne Université, Hôpital Pitié-Salpêtrière, Centre de référence Des Maladies Neuromusculaires Nord/Est/Ile de France, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bellatache+M%22">Bellatache M</searchLink>; Department of Neurology, Neuroscience Research Laboratory, Benyoucef Benkheda University, Algiers, Algeria.<br /><searchLink fieldCode="AU" term="%22Nouioua+S%22">Nouioua S</searchLink>; Department of Neurology, Neuroscience Research Laboratory, Benyoucef Benkheda University, Algiers, Algeria.<br /><searchLink fieldCode="AU" term="%22Tazir+M%22">Tazir M</searchLink>; Department of Neurology, Neuroscience Research Laboratory, Benyoucef Benkheda University, Algiers, Algeria.<br /><searchLink fieldCode="AU" term="%22Cakar+A%22">Cakar A</searchLink>; Neuromuscular Unit, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Gambardella+A%22">Gambardella A</searchLink>; Department of Neurology, Università Magna Graecia di Catanzaro, Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Valentino+P%22">Valentino P</searchLink>; Department of Neurology, Università Magna Graecia di Catanzaro, Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Lewis+RA%22">Lewis RA</searchLink>; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Horvath+R%22">Horvath R</searchLink>; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Zambon+AA%22">Zambon AA</searchLink>; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Neurology Unit, IRCCS Ospedale San Raffaele, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Sabatelli+M%22">Sabatelli M</searchLink>; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Centro Clinico Nemo Adulti Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Luigetti+M%22">Luigetti M</searchLink>; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, UOC Neurologia, Rome, Italy.; Università Cattolica del Sacro Cuore, Sede di Roma, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Tozza+S%22">Tozza S</searchLink>; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Manganelli+F%22">Manganelli F</searchLink>; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Herrmann+DN%22">Herrmann DN</searchLink>; Department of Neurology, University of Rochester, Rochester, New York, USA.<br /><searchLink fieldCode="AU" term="%22Scherer+SS%22">Scherer SS</searchLink>; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Kressin+N%22">Kressin N</searchLink>; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.<br /><searchLink fieldCode="AU" term="%22Ward+K%22">Ward K</searchLink>; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.<br /><searchLink fieldCode="AU" term="%22Bolino+A%22">Bolino A</searchLink>; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Shy+ME%22">Shy ME</searchLink>; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.<br /><searchLink fieldCode="AU" term="%22Pareyson+D%22">Pareyson D</searchLink>; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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  Data: <searchLink fieldCode="CA" term="%22CMT4B+Study+Group%22">CMT4B Study Group</searchLink><br /><searchLink fieldCode="CA" term="%22Inherited+Neuropathy+Consortium%22">Inherited Neuropathy Consortium</searchLink>
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  Data: <searchLink fieldCode="JN" term="%229506311%22">European journal of neurology</searchLink> [Eur J Neurol] 2025 Feb; Vol. 32 (2), pp. e70084.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9506311 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-1331 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213515101%22">13515101 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Neurol <i>Subsets: </i>MEDLINE
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