Expanding the Clinical and Mutational Spectrum of the <i>PLP1</i>-Related Hypomyelination of Early Myelinated Structures (HEMS).

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作者： Francesco,Nicita ^[1] ; Chiara,Aiello ^[2] ; Gessica,Vasco ^[1] ; Massimiliano,Valeriani ^[2] ; Fabrizia,Stregapede ^[3] ; Andrea,Sancesario ^[4] ; Michela,Armando ^[1] ; Enrico,Bertini ^[2]

作者单位： Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience, IRCCS Bambino Gesù Children's Hospital, 00146 Rome, Italy. ^[1] Laboratory of Molecular Medicine, Department of Neuroscience, IRCCS Bambino Gesù Children's Hospital, 00146 Rome, Italy. ^[2] Unit of Neurorehabilitation, Department of Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, 00050 Rome, Italy. ^[3] Unit of Neurology, Department of Neuroscience, IRCCS Bambino Gesù Children's Hospital, 00165 Rome, Italy. ^[4] Department of Sciences, University of Roma Tre, 00146 Rome, Italy. ^[5] Department Systems Medicine, University of Roma Tor Vergata, 00133 Rome, Italy. ^[6]

关键词 DM20 HEMS PLP1 Pelizaeus-Merzbacher disease exon 3B hypomyelinating intron 3 leukodystrophy proteolipid protein 1

DOI 10.3390/brainsci11010093

PMID 33450882

发布时间 2021-02-18

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Brain sciences

2021年11卷1期

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Expanding the Clinical and Mutational Spectrum of the <i>PLP1</i>-Related Hypomyelination of Early Myelinated Structures (HEMS).

Brain sciences

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Expanding the Clinical and Mutational Spectrum of the <i>PLP1</i>-Related Hypomyelination of Early Myelinated Structures (HEMS).

Brain sciences

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Brain sciences

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