MYRF is associated with encephalopathy with reversible myelin vacuolization.
Identifieur interne : 001C92 ( Ncbi/Merge ); précédent : 001C91; suivant : 001C93MYRF is associated with encephalopathy with reversible myelin vacuolization.
Auteurs : Hirokazu Kurahashi [Japon] ; Yoshiteru Azuma [Japon] ; Akio Masuda [Japon] ; Tatsuya Okuno [Japon] ; Eri Nakahara [Japon] ; Takuji Imamura [Japon] ; Makiko Saitoh [Japon] ; Masashi Mizuguchi [Japon] ; Toshiaki Shimizu [Japon] ; Kinji Ohno [Japon] ; Akihisa Okumura [Japon]Source :
- Annals of neurology [ 1531-8249 ] ; 2018.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Corps calleux (métabolisme), Encéphalopathies (anatomopathologie), Encéphalopathies (génétique), Encéphalopathies (imagerie diagnostique), Enfant, Enfant d'âge préscolaire, Exome (génétique), Facteurs de transcription (génétique), Famille, Gaine de myéline (anatomopathologie), Humains, Imagerie par résonance magnétique, Jeune adulte, Mâle, Pedigree, Polymorphisme de nucléotide simple (génétique), Protéines membranaires (génétique), Vacuoles (anatomopathologie), Électroencéphalographie, Études de cohortes, Évolution de la maladie.
- MESH :
- anatomopathologie : Encéphalopathies, Gaine de myéline, Vacuoles.
- génétique : Encéphalopathies, Exome, Facteurs de transcription, Polymorphisme de nucléotide simple, Protéines membranaires.
- imagerie diagnostique : Encéphalopathies.
- métabolisme : Corps calleux.
- Adolescent, Adulte, Enfant, Enfant d'âge préscolaire, Famille, Humains, Imagerie par résonance magnétique, Jeune adulte, Mâle, Pedigree, Électroencéphalographie, Études de cohortes, Évolution de la maladie.
English descriptors
- KwdEn :
- Adolescent, Adult, Brain Diseases (diagnostic imaging), Brain Diseases (genetics), Brain Diseases (pathology), Child, Child, Preschool, Cohort Studies, Corpus Callosum (metabolism), Disease Progression, Electroencephalography, Exome (genetics), Family, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins (genetics), Myelin Sheath (pathology), Pedigree, Polymorphism, Single Nucleotide (genetics), Transcription Factors (genetics), Vacuoles (pathology), Young Adult.
- MESH :
- chemical , genetics : Membrane Proteins, Transcription Factors.
- diagnostic imaging : Brain Diseases.
- genetics : Brain Diseases, Exome, Polymorphism, Single Nucleotide.
- metabolism : Corpus Callosum.
- pathology : Brain Diseases, Myelin Sheath, Vacuoles.
- Adolescent, Adult, Child, Child, Preschool, Cohort Studies, Disease Progression, Electroencephalography, Family, Humans, Magnetic Resonance Imaging, Male, Pedigree, Young Adult.
Abstract
Reversible myelin vacuolization is associated with variable conditions including mild encephalitis/encephalopathy with a reversible splenial lesion (MERS), which is characterized by mildly impaired consciousness and transient splenial lesion. Familial and/or recurrent cases with a clinical diagnosis of MERS suggest the presence of genetic factors.
DOI: 10.1002/ana.25125
PubMed: 29265453
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last="Shimizu">Toshiaki Shimizu</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation></author><author><name sortKey="Ohno, Kinji" sort="Ohno, Kinji" uniqKey="Ohno K" first="Kinji" last="Ohno">Kinji Ohno</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurogenetics, Center for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Neurogenetics, Center for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, Nagoya, 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uniqKey="Azuma Y" first="Yoshiteru" last="Azuma">Yoshiteru Azuma</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Aichi</wicri:regionArea><wicri:noRegion>Aichi</wicri:noRegion></affiliation></author><author><name sortKey="Masuda, Akio" sort="Masuda, Akio" uniqKey="Masuda A" first="Akio" last="Masuda">Akio Masuda</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurogenetics, Center for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Neurogenetics, Center for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Aichi</wicri:regionArea><wicri:noRegion>Aichi</wicri:noRegion></affiliation></author><author><name sortKey="Okuno, Tatsuya" sort="Okuno, Tatsuya" uniqKey="Okuno T" first="Tatsuya" last="Okuno">Tatsuya Okuno</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurogenetics, Center for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Neurogenetics, Center for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Aichi</wicri:regionArea><wicri:noRegion>Aichi</wicri:noRegion></affiliation></author><author><name sortKey="Nakahara, Eri" sort="Nakahara, Eri" uniqKey="Nakahara E" first="Eri" last="Nakahara">Eri Nakahara</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation></author><author><name sortKey="Imamura, Takuji" sort="Imamura, Takuji" uniqKey="Imamura T" first="Takuji" last="Imamura">Takuji Imamura</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, PL General Hospital, Tondabayashi, Osaka, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, PL General Hospital, Tondabayashi, Osaka</wicri:regionArea><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Saitoh, Makiko" sort="Saitoh, Makiko" uniqKey="Saitoh M" first="Makiko" last="Saitoh">Makiko Saitoh</name><affiliation wicri:level="4"><nlm:affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Bunkyo-ku, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Bunkyo-ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName><orgName type="university">Université de Tokyo</orgName></affiliation></author><author><name sortKey="Mizuguchi, Masashi" sort="Mizuguchi, Masashi" uniqKey="Mizuguchi M" first="Masashi" last="Mizuguchi">Masashi Mizuguchi</name><affiliation wicri:level="4"><nlm:affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Bunkyo-ku, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Bunkyo-ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName><orgName type="university">Université de Tokyo</orgName></affiliation></author><author><name sortKey="Shimizu, Toshiaki" sort="Shimizu, Toshiaki" uniqKey="Shimizu T" first="Toshiaki" last="Shimizu">Toshiaki Shimizu</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation></author><author><name sortKey="Ohno, Kinji" sort="Ohno, Kinji" uniqKey="Ohno K" first="Kinji" last="Ohno">Kinji Ohno</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurogenetics, Center for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Neurogenetics, Center for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Aichi</wicri:regionArea><wicri:noRegion>Aichi</wicri:noRegion></affiliation></author><author><name sortKey="Okumura, Akihisa" sort="Okumura, Akihisa" uniqKey="Okumura A" first="Akihisa" last="Okumura">Akihisa Okumura</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Aichi Medical University, Nagakute, Aichi, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Aichi Medical University, Nagakute, Aichi</wicri:regionArea><wicri:noRegion>Aichi</wicri:noRegion></affiliation></author></analytic><series><title level="j">Annals of neurology</title><idno type="eISSN">1531-8249</idno><imprint><date when="2018" type="published">2018</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Brain Diseases (diagnostic imaging)</term><term>Brain Diseases (genetics)</term><term>Brain Diseases (pathology)</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>Corpus Callosum (metabolism)</term><term>Disease Progression</term><term>Electroencephalography</term><term>Exome (genetics)</term><term>Family</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Membrane Proteins (genetics)</term><term>Myelin Sheath (pathology)</term><term>Pedigree</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Transcription Factors (genetics)</term><term>Vacuoles (pathology)</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Corps calleux (métabolisme)</term><term>Encéphalopathies (anatomopathologie)</term><term>Encéphalopathies (génétique)</term><term>Encéphalopathies (imagerie diagnostique)</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Exome (génétique)</term><term>Facteurs de transcription (génétique)</term><term>Famille</term><term>Gaine de myéline (anatomopathologie)</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Jeune adulte</term><term>Mâle</term><term>Pedigree</term><term>Polymorphisme de nucléotide simple (génétique)</term><term>Protéines membranaires (génétique)</term><term>Vacuoles (anatomopathologie)</term><term>Électroencéphalographie</term><term>Études de cohortes</term><term>Évolution de la maladie</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Proteins</term><term>Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Encéphalopathies</term><term>Gaine de myéline</term><term>Vacuoles</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Brain Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Brain Diseases</term><term>Exome</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Encéphalopathies</term><term>Exome</term><term>Facteurs de transcription</term><term>Polymorphisme de nucléotide simple</term><term>Protéines membranaires</term></keywords><keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Encéphalopathies</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Corpus Callosum</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Corps calleux</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain Diseases</term><term>Myelin Sheath</term><term>Vacuoles</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>Disease Progression</term><term>Electroencephalography</term><term>Family</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Pedigree</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Famille</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Jeune adulte</term><term>Mâle</term><term>Pedigree</term><term>Électroencéphalographie</term><term>Études de cohortes</term><term>Évolution de la maladie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Reversible myelin vacuolization is associated with variable conditions including mild encephalitis/encephalopathy with a reversible splenial lesion (MERS), which is characterized by mildly impaired consciousness and transient splenial lesion. Familial and/or recurrent cases with a clinical diagnosis of MERS suggest the presence of genetic factors.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">29265453</PMID><DateCompleted><Year>2019</Year><Month>01</Month><Day>22</Day></DateCompleted><DateRevised><Year>2019</Year><Month>08</Month><Day>28</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8249</ISSN><JournalIssue CitedMedium="Internet"><Volume>83</Volume><Issue>1</Issue><PubDate><Year>2018</Year><Month>01</Month></PubDate></JournalIssue><Title>Annals of neurology</Title><ISOAbbreviation>Ann. Neurol.</ISOAbbreviation></Journal><ArticleTitle>MYRF is associated with encephalopathy with reversible myelin vacuolization.</ArticleTitle><Pagination><MedlinePgn>98-106</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ana.25125</ELocationID><Abstract><AbstractText Label="OBJECTIVE">Reversible myelin vacuolization is associated with variable conditions including mild encephalitis/encephalopathy with a reversible splenial lesion (MERS), which is characterized by mildly impaired consciousness and transient splenial lesion. Familial and/or recurrent cases with a clinical diagnosis of MERS suggest the presence of genetic factors.</AbstractText><AbstractText Label="METHODS">We examined a family in which the proband presented with a history of recurrent encephalopathy with extensive but reversible cerebral myelin vacuolization and neurological symptoms similar to those of MERS spanning 3 generations. Whole-exome sequencing was performed in family members.</AbstractText><AbstractText Label="RESULTS">Eight rare nonsynonymous single-nucleotide variants shared by all patients were identified. By filtering genes expressed in the corpus callosum, we identified a heterozygous c.1208A>G predicting p.Gln403Arg in the highly conserved DNA-binding domain in the myelin regulatory factor (MYRF) gene. We subsequently screened the coding regions of MYRF by Sanger sequencing in our cohort comprised of 33 sporadic cases with MERS and 3 cases in another family with extensive myelin vacuolization, and identified the same heterozygous c.1208A>G in all affected members in the second family. Luciferase assay revealed that transcriptional activity of the N-terminal region of MYRF was significantly diminished by introducing the c.1208A>G variant.</AbstractText><AbstractText Label="INTERPRETATION">MYRF is a transcriptional regulator that is necessary for oligodendrocyte differentiation and myelin maintenance. Functional defects of MYRF are likely to be causally associated with encephalopathy with extensive myelin vacuolization. We propose the term "MYRF-related mild encephalopathy with reversible myelin vacuolization." Our findings provide a new perspective on the pathogenesis of myelin vacuolization. Ann Neurol 2018;83:98-106.</AbstractText><CopyrightInformation>© 2017 American Neurological Association.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kurahashi</LastName><ForeName>Hirokazu</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Aichi Medical University, Nagakute, Aichi, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Azuma</LastName><ForeName>Yoshiteru</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, Tyne and Wear, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Masuda</LastName><ForeName>Akio</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Division of Neurogenetics, Center for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Okuno</LastName><ForeName>Tatsuya</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Division of Neurogenetics, Center for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nakahara</LastName><ForeName>Eri</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Imamura</LastName><ForeName>Takuji</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, PL General Hospital, Tondabayashi, Osaka, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Saitoh</LastName><ForeName>Makiko</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Bunkyo-ku, Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mizuguchi</LastName><ForeName>Masashi</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Bunkyo-ku, Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shimizu</LastName><ForeName>Toshiaki</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ohno</LastName><ForeName>Kinji</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Division of Neurogenetics, Center for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Okumura</LastName><ForeName>Akihisa</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Aichi Medical University, Nagakute, Aichi, Japan.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2018</Year><Month>01</Month><Day>14</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Ann Neurol</MedlineTA><NlmUniqueID>7707449</NlmUniqueID><ISSNLinking>0364-5134</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D008565">Membrane Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C409875">Myrf protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D014157">Transcription Factors</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001927" MajorTopicYN="N">Brain Diseases</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015331" MajorTopicYN="N">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003337" MajorTopicYN="N">Corpus Callosum</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D018450" MajorTopicYN="N">Disease Progression</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004569" MajorTopicYN="N">Electroencephalography</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D059472" MajorTopicYN="N">Exome</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005190" MajorTopicYN="N">Family</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008279" MajorTopicYN="N">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008565" MajorTopicYN="N">Membrane Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009186" MajorTopicYN="N">Myelin Sheath</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020641" MajorTopicYN="N">Polymorphism, Single Nucleotide</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014157" MajorTopicYN="N">Transcription Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014617" MajorTopicYN="N">Vacuoles</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2017</Year><Month>04</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2017</Year><Month>12</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2017</Year><Month>12</Month><Day>15</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>12</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2019</Year><Month>1</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>12</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">29265453</ArticleId><ArticleId IdType="doi">10.1002/ana.25125</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Japon</li></country><region><li>Région de Kantō</li></region><settlement><li>Tokyo</li></settlement><orgName><li>Université de Tokyo</li></orgName></list><tree><country name="Japon"><noRegion><name sortKey="Kurahashi, Hirokazu" sort="Kurahashi, Hirokazu" uniqKey="Kurahashi H" first="Hirokazu" last="Kurahashi">Hirokazu Kurahashi</name></noRegion><name sortKey="Azuma, Yoshiteru" sort="Azuma, Yoshiteru" uniqKey="Azuma Y" first="Yoshiteru" last="Azuma">Yoshiteru Azuma</name><name sortKey="Imamura, Takuji" sort="Imamura, Takuji" uniqKey="Imamura T" first="Takuji" last="Imamura">Takuji Imamura</name><name sortKey="Masuda, Akio" sort="Masuda, Akio" uniqKey="Masuda A" first="Akio" last="Masuda">Akio Masuda</name><name sortKey="Mizuguchi, Masashi" sort="Mizuguchi, Masashi" uniqKey="Mizuguchi M" first="Masashi" last="Mizuguchi">Masashi Mizuguchi</name><name sortKey="Nakahara, Eri" sort="Nakahara, Eri" uniqKey="Nakahara E" first="Eri" last="Nakahara">Eri Nakahara</name><name sortKey="Ohno, Kinji" sort="Ohno, Kinji" uniqKey="Ohno K" first="Kinji" last="Ohno">Kinji Ohno</name><name sortKey="Okumura, Akihisa" sort="Okumura, Akihisa" uniqKey="Okumura A" first="Akihisa" last="Okumura">Akihisa Okumura</name><name sortKey="Okuno, Tatsuya" sort="Okuno, Tatsuya" uniqKey="Okuno T" first="Tatsuya" last="Okuno">Tatsuya Okuno</name><name sortKey="Saitoh, Makiko" sort="Saitoh, Makiko" uniqKey="Saitoh M" first="Makiko" last="Saitoh">Makiko Saitoh</name><name sortKey="Shimizu, Toshiaki" sort="Shimizu, Toshiaki" uniqKey="Shimizu T" first="Toshiaki" last="Shimizu">Toshiaki Shimizu</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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