The Genetic Basis of Moyamoya Disease View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-09-16

AUTHORS

R. Mertens, M. Graupera, H. Gerhardt, A. Bersano, E. Tournier-Lasserve, M. A. Mensah, S. Mundlos, P. Vajkoczy

ABSTRACT

Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive spontaneous bilateral occlusion of the intracranial internal cerebral arteries (ICA) and their major branches with compensatory capillary collaterals resembling a “puff of smoke” (Japanese: Moyamoya) on cerebral angiography. These pathological alterations of the vessels are called Moyamoya arteriopathy or vasculopathy and a further distinction is made between primary and secondary MMD. Clinical presentation depends on age and population, with hemorrhage and ischemic infarcts in particular leading to severe neurological dysfunction or even death. Although the diagnostic suspicion can be posed by MRA or CTA, cerebral angiography is mandatory for diagnostic confirmation. Since no therapy to limit the stenotic lesions or the development of a collateral network is available, the only treatment established so far is surgical revascularization. The pathophysiology still remains unknown. Due to the early age of onset, familial cases and the variable incidence rate between different ethnic groups, the focus was put on genetic aspects early on. Several genetic risk loci as well as individual risk genes have been reported; however, few of them could be replicated in independent series. Linkage studies revealed linkage to the 17q25 locus. Multiple studies on the association of SNPs and MMD have been conducted, mainly focussing on the endothelium, smooth muscle cells, cytokines and growth factors. A variant of the RNF213 gene was shown to be strongly associated with MMD with a founder effect in the East Asian population. Although it is unknown how mutations in the RNF213 gene, encoding for a ubiquitously expressed 591 kDa cytosolic protein, lead to clinical features of MMD, RNF213 has been confirmed as a susceptibility gene in several studies with a gene dosage-dependent clinical phenotype, allowing preventive screening and possibly the development of new therapeutic approaches. This review focuses on the genetic basis of primary MMD only. More... »

PAGES

25-45

References to SciGraph publications

  • 2018-02-26. Dysregulation of RNF213 promotes cerebral hypoperfusion in SCIENTIFIC REPORTS
  • 2019-01-24. In vivo demonstration of blood-brain barrier impairment in Moyamoya disease in ACTA NEUROCHIRURGICA
  • 2014-09-25. Collateralization and ischemia in hemodynamic cerebrovascular insufficiency in ACTA NEUROCHIRURGICA
  • 2000-12. A Co-Operative Study: Clinical Characteristics of 334 Korean Patients with Moyamoya Disease Treated at Neurosurgical Institutes (1976–1994) in ACTA NEUROCHIRURGICA
  • 2018-12-04. HLA testing in the molecular diagnostic laboratory in VIRCHOWS ARCHIV
  • 2004-09-01. Sequence analysis and bioinformatics analysis of chromosome 17q25 in familial moyamoya disease in CHILD'S NERVOUS SYSTEM
  • 2010-08-06. Common genetic polymorphisms in Moyamoya and atherosclerotic disease in Europeans in CHILD'S NERVOUS SYSTEM
  • 2014-03-24. Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state in SCIENTIFIC REPORTS
  • 2018-10-03. Posterior circulation involvement and collateral flow pattern in moyamoya disease with the RNF213 polymorphism in CHILD'S NERVOUS SYSTEM
  • 2013-12-18. Genomewide association study identifies no major founder variant in Caucasian moyamoya disease in JOURNAL OF GENETICS
  • 2010-06-23. Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya disease in European patients in ACTA NEUROCHIRURGICA
  • 2007-10-03. Expression of vascular endothelial growth factor in dura mater of patients with moyamoya disease in NEUROSURGICAL REVIEW
  • 2020-08-19. Different subtypes of collateral vessels in hemorrhagic moyamoya disease with p.R4810K variant in BMC NEUROLOGY
  • 2015-12-10. A new horizon of moyamoya disease and associated health risks explored through RNF213 in ENVIRONMENTAL HEALTH AND PREVENTIVE MEDICINE
  • 2015-03-31. Genetic linkage analysis in the age of whole-genome sequencing in NATURE REVIEWS GENETICS
  • 2012-01-11. Analysis of human leucocyte antigen genes in Caucasian patients with idiopathic Moyamoya angiopathy in ACTA NEUROCHIRURGICA
  • 2014-10-04. The GC + CC genotype at position -418 in TIMP-2 promoter and the -1575GA/-1306CC genotype in MMP-2is genetic predisposing factors for prevalence of moyamoya disease in BMC NEUROLOGY
  • 2015-08-17. Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells in SCIENTIFIC REPORTS
  • 2014-04-23. Guidelines for investigating causality of sequence variants in human disease in NATURE
  • 2004-04-22. A novel susceptibility locus for moyamoya disease on chromosome 8q23 in JOURNAL OF HUMAN GENETICS
  • 2018-08-29. Circulating miRNome profiling in Moyamoya disease-discordant monozygotic twins and endothelial microRNA expression analysis using iPS cell line in BMC MEDICAL GENOMICS
  • 2017-11-02. Rare variants of RNF213 and moyamoya/non-moyamoya intracranial artery stenosis/occlusion disease risk: a meta-analysis and systematic review in ENVIRONMENTAL HEALTH AND PREVENTIVE MEDICINE
  • 2017-06-21. Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-06-21. Age-specific eNOS polymorphisms in moyamoya disease in CHILD'S NERVOUS SYSTEM
  • 2019-02-28. Neurologic Complications of Sickle Cell Disease in CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
  • 2016-08-30. Grading of moyamoya disease allows stratification for postoperative ischemia in bilateral revascularization surgery in ACTA NEUROCHIRURGICA
  • 2015-11-20. Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals in BMC MEDICAL GENOMICS
  • 2003-05. Mechanisms, challenges and opportunities in stroke in NATURE REVIEWS NEUROSCIENCE
  • 2005-09-30. Clinical features of familial moyamoya disease in CHILD'S NERVOUS SYSTEM
  • 2019-08-08. Novel missense variants in the RNF213 gene from a European family with Moyamoya disease in HUMAN GENOME VARIATION
  • 2018-09-01. Incidence of Moyamoya Disease in Denmark: A Population-Based Register Study in TRENDS IN THE MANAGEMENT OF CEREBROVASCULAR DISEASES
  • 2019-09-02. The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy in GENETICS IN MEDICINE
  • 2010-11-04. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene in JOURNAL OF HUMAN GENETICS
  • 2012-08-30. Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity in JOURNAL OF HUMAN GENETICS
  • 2009-11-19. A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians in ENVIRONMENTAL HEALTH AND PREVENTIVE MEDICINE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s12975-021-00940-2

    DOI

    http://dx.doi.org/10.1007/s12975-021-00940-2

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1141152359

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/34529262


    Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
    Incoming Citations Browse incoming citations for this publication using opencitations.net

    JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Medical and Health Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1103", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Clinical Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1109", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Neurosciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1117", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Public Health and Health Services", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Adenosine Triphosphatases", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Predisposition to Disease", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Moyamoya Disease", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Ubiquitin-Protein Ligases", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Department of Neurosurgery, Berlin, Germany", 
              "id": "http://www.grid.ac/institutes/grid.6363.0", 
              "name": [
                "Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Department of Neurosurgery, Berlin, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mertens", 
            "givenName": "R.", 
            "id": "sg:person.011610177264.60", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011610177264.60"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Vascular Biology and Signalling Group, ProCURE, Oncobell Program, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), L\u2019Hospitalet de Llobregat, Barcelona, Catalonia, Spain", 
              "id": "http://www.grid.ac/institutes/grid.418284.3", 
              "name": [
                "Vascular Biology and Signalling Group, ProCURE, Oncobell Program, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), L\u2019Hospitalet de Llobregat, Barcelona, Catalonia, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Graupera", 
            "givenName": "M.", 
            "id": "sg:person.01313645157.41", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313645157.41"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Integrative Vascular Biology Laboratory, Max-Delbr\u00fcck Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany", 
              "id": "http://www.grid.ac/institutes/grid.419491.0", 
              "name": [
                "Integrative Vascular Biology Laboratory, Max-Delbr\u00fcck Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gerhardt", 
            "givenName": "H.", 
            "id": "sg:person.0754535466.06", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0754535466.06"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy", 
              "id": "http://www.grid.ac/institutes/grid.417894.7", 
              "name": [
                "Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bersano", 
            "givenName": "A.", 
            "id": "sg:person.01214353316.66", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01214353316.66"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genetics, NeuroDiderot, Lariboisi\u00e8re Hospital and INSERM UMR-1141, Paris-Diderot University, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.513208.d", 
              "name": [
                "Department of Genetics, NeuroDiderot, Lariboisi\u00e8re Hospital and INSERM UMR-1141, Paris-Diderot University, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Tournier-Lasserve", 
            "givenName": "E.", 
            "id": "sg:person.01341616457.00", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01341616457.00"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "BIH Biomedical Innovation Academy, Digital Clinician Scientist Program, Berlin Institute of Health at Charit\u00e9 - Universit\u00e4tsmedizin Berlin, Berlin, Germany", 
              "id": "http://www.grid.ac/institutes/grid.484013.a", 
              "name": [
                "Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany", 
                "BIH Biomedical Innovation Academy, Digital Clinician Scientist Program, Berlin Institute of Health at Charit\u00e9 - Universit\u00e4tsmedizin Berlin, Berlin, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mensah", 
            "givenName": "M. A.", 
            "id": "sg:person.01143036042.03", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01143036042.03"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany", 
              "id": "http://www.grid.ac/institutes/grid.419538.2", 
              "name": [
                "Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany", 
                "Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mundlos", 
            "givenName": "S.", 
            "id": "sg:person.0673132341.78", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673132341.78"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Department of Neurosurgery, Berlin, Germany", 
              "id": "http://www.grid.ac/institutes/grid.6363.0", 
              "name": [
                "Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Department of Neurosurgery, Berlin, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Vajkoczy", 
            "givenName": "P.", 
            "id": "sg:person.0773145636.21", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773145636.21"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/nrn1106", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011085421", 
              "https://doi.org/10.1038/nrn1106"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00381-010-1241-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027609390", 
              "https://doi.org/10.1007/s00381-010-1241-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s12199-009-0116-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043060373", 
              "https://doi.org/10.1007/s12199-009-0116-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12881-015-0252-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023279061", 
              "https://doi.org/10.1186/s12881-015-0252-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00381-004-1005-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033279292", 
              "https://doi.org/10.1007/s00381-004-1005-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s007010070024", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045716519", 
              "https://doi.org/10.1007/s007010070024"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s11910-019-0932-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1112459867", 
              "https://doi.org/10.1007/s11910-019-0932-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature13127", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002821806", 
              "https://doi.org/10.1038/nature13127"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00381-011-1504-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006772567", 
              "https://doi.org/10.1007/s00381-011-1504-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10038-004-0143-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039971746", 
              "https://doi.org/10.1007/s10038-004-0143-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/978-3-319-73739-3_13", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1106466516", 
              "https://doi.org/10.1007/978-3-319-73739-3_13"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00701-011-1261-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018008952", 
              "https://doi.org/10.1007/s00701-011-1261-5"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00381-018-3985-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1107372146", 
              "https://doi.org/10.1007/s00381-018-3985-5"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12883-014-0180-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028482765", 
              "https://doi.org/10.1186/s12883-014-0180-5"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41436-019-0639-2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1120757091", 
              "https://doi.org/10.1038/s41436-019-0639-2"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2017.92", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1086101860", 
              "https://doi.org/10.1038/ejhg.2017.92"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/jhg.2010.132", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008208421", 
              "https://doi.org/10.1038/jhg.2010.132"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12883-020-01884-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1130204326", 
              "https://doi.org/10.1186/s12883-020-01884-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg3908", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033434771", 
              "https://doi.org/10.1038/nrg3908"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/srep04442", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037111055", 
              "https://doi.org/10.1038/srep04442"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s12041-013-0304-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048943076", 
              "https://doi.org/10.1007/s12041-013-0304-5"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12920-018-0385-3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1106409118", 
              "https://doi.org/10.1186/s12920-018-0385-3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41598-018-22064-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1101130694", 
              "https://doi.org/10.1038/s41598-018-22064-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12199-017-0680-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1092508458", 
              "https://doi.org/10.1186/s12199-017-0680-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10143-007-0102-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043421530", 
              "https://doi.org/10.1007/s10143-007-0102-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00381-005-1230-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007497907", 
              "https://doi.org/10.1007/s00381-005-1230-5"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00701-010-0711-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007064481", 
              "https://doi.org/10.1007/s00701-010-0711-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41439-019-0066-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1120187108", 
              "https://doi.org/10.1038/s41439-019-0066-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00701-016-2941-y", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012052092", 
              "https://doi.org/10.1007/s00701-016-2941-y"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00701-014-2227-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005456986", 
              "https://doi.org/10.1007/s00701-014-2227-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s12199-015-0498-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009832586", 
              "https://doi.org/10.1007/s12199-015-0498-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00701-019-03811-w", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1111630030", 
              "https://doi.org/10.1007/s00701-019-03811-w"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00428-018-2501-3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1110379104", 
              "https://doi.org/10.1007/s00428-018-2501-3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/srep13191", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005954994", 
              "https://doi.org/10.1038/srep13191"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/jhg.2012.105", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011434182", 
              "https://doi.org/10.1038/jhg.2012.105"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2021-09-16", 
        "datePublishedReg": "2021-09-16", 
        "description": "Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive spontaneous bilateral occlusion of the intracranial internal cerebral arteries (ICA) and their major branches with compensatory capillary collaterals resembling a \u201cpuff of smoke\u201d (Japanese: Moyamoya) on cerebral angiography. These\u00a0pathological alterations of the vessels are called Moyamoya arteriopathy or vasculopathy and a further distinction is made between primary and secondary MMD. Clinical presentation depends on age and population, with hemorrhage and ischemic infarcts in particular leading to severe neurological dysfunction or even death. Although the diagnostic suspicion can be posed by MRA or CTA, cerebral angiography is mandatory for diagnostic confirmation. Since no therapy to limit the stenotic lesions or the development of a\u00a0collateral network is available, the only treatment established so far is surgical revascularization. The pathophysiology still remains unknown. Due to the early\u00a0age of onset, familial cases and the variable incidence rate between different ethnic groups, the focus was put on genetic aspects early on. Several genetic risk loci as well as individual risk genes have been reported; however, few of them could be replicated in independent series. Linkage studies revealed linkage to the 17q25 locus. Multiple studies on the association of SNPs and MMD have been conducted, mainly focussing on the endothelium, smooth muscle cells,  cytokines and growth factors. A variant of the RNF213 gene was shown to be strongly associated with MMD with a founder effect in the East Asian population. Although it is unknown how mutations in the RNF213 gene, encoding for a ubiquitously expressed 591\u00a0kDa cytosolic protein, lead to clinical features of MMD, RNF213 has been confirmed as a susceptibility gene in several studies with a\u00a0gene dosage-dependent clinical phenotype, allowing preventive screening and possibly\u00a0the\u00a0 development of new therapeutic approaches. This review focuses on the genetic basis of primary MMD only.", 
        "genre": "article", 
        "id": "sg:pub.10.1007/s12975-021-00940-2", 
        "isAccessibleForFree": true, 
        "isPartOf": [
          {
            "id": "sg:journal.1042288", 
            "issn": [
              "1868-4483", 
              "1868-601X"
            ], 
            "name": "Translational Stroke Research", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "13"
          }
        ], 
        "keywords": [
          "moyamoya disease", 
          "cerebral angiography", 
          "RNF213 gene", 
          "rare cerebrovascular disease", 
          "internal cerebral artery", 
          "severe neurological dysfunction", 
          "variable incidence rates", 
          "primary moyamoya disease", 
          "new therapeutic approaches", 
          "age of onset", 
          "smooth muscle cells", 
          "puff of smoke", 
          "moyamoya arteriopathy", 
          "surgical revascularization", 
          "ischemic infarct", 
          "bilateral occlusion", 
          "cerebral artery", 
          "clinical presentation", 
          "diagnostic suspicion", 
          "clinical features", 
          "cerebrovascular disease", 
          "stenotic lesions", 
          "neurological dysfunction", 
          "preventive screening", 
          "incidence rate", 
          "diagnostic confirmation", 
          "collateral network", 
          "therapeutic approaches", 
          "pathological alterations", 
          "association of SNPs", 
          "genetic risk loci", 
          "clinical phenotype", 
          "only treatment", 
          "muscle cells", 
          "familial cases", 
          "growth factor", 
          "Asian populations", 
          "different ethnic groups", 
          "disease", 
          "multiple studies", 
          "East Asian populations", 
          "angiography", 
          "independent series", 
          "risk genes", 
          "susceptibility genes", 
          "genetic aspects", 
          "major branches", 
          "linkage studies", 
          "age", 
          "risk loci", 
          "individual risk genes", 
          "ethnic groups", 
          "genetic basis", 
          "revascularization", 
          "arteriopathy", 
          "hemorrhage", 
          "infarcts", 
          "artery", 
          "dysfunction", 
          "pathophysiology", 
          "cytokines", 
          "therapy", 
          "population", 
          "lesions", 
          "endothelium", 
          "genes", 
          "suspicion", 
          "cytosolic proteins", 
          "occlusion", 
          "RNF213", 
          "study", 
          "death", 
          "CTA", 
          "treatment", 
          "collaterals", 
          "MRA", 
          "presentation", 
          "onset", 
          "association", 
          "alterations", 
          "founder effect", 
          "screening", 
          "vessels", 
          "smoke", 
          "phenotype", 
          "cells", 
          "SNPs", 
          "review", 
          "group", 
          "confirmation", 
          "mutations", 
          "particular leading", 
          "puffs", 
          "factors", 
          "development", 
          "cases", 
          "protein", 
          "variants", 
          "rate", 
          "effect", 
          "loci", 
          "further distinction", 
          "basis", 
          "features", 
          "focus", 
          "series", 
          "branches", 
          "aspects", 
          "linkage", 
          "approach", 
          "distinction", 
          "leading", 
          "network"
        ], 
        "name": "The Genetic Basis of Moyamoya Disease", 
        "pagination": "25-45", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1141152359"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1007/s12975-021-00940-2"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "34529262"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1007/s12975-021-00940-2", 
          "https://app.dimensions.ai/details/publication/pub.1141152359"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-09-02T16:06", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220902/entities/gbq_results/article/article_905.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1007/s12975-021-00940-2"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s12975-021-00940-2'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s12975-021-00940-2'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s12975-021-00940-2'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s12975-021-00940-2'


     

    This table displays all metadata directly associated to this object as RDF triples.

    411 TRIPLES      21 PREDICATES      180 URIs      135 LITERALS      12 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1007/s12975-021-00940-2 schema:about N1a508b832acc48b7b3e74f0175d71715
    2 N534f4d731cbf49eeb3a1b987804cab0f
    3 Nef632dd2929e4db5bf4fd475105ee98d
    4 Nf436c9877e7f44a8a85004cabf8fd3b4
    5 Nf6080dfb3f8e464482bf78f428f673fb
    6 anzsrc-for:11
    7 anzsrc-for:1103
    8 anzsrc-for:1109
    9 anzsrc-for:1117
    10 schema:author N9169ed43a79240e9af25e4a654d873a8
    11 schema:citation sg:pub.10.1007/978-3-319-73739-3_13
    12 sg:pub.10.1007/s00381-004-1005-4
    13 sg:pub.10.1007/s00381-005-1230-5
    14 sg:pub.10.1007/s00381-010-1241-8
    15 sg:pub.10.1007/s00381-011-1504-z
    16 sg:pub.10.1007/s00381-018-3985-5
    17 sg:pub.10.1007/s00428-018-2501-3
    18 sg:pub.10.1007/s00701-010-0711-9
    19 sg:pub.10.1007/s00701-011-1261-5
    20 sg:pub.10.1007/s00701-014-2227-1
    21 sg:pub.10.1007/s00701-016-2941-y
    22 sg:pub.10.1007/s00701-019-03811-w
    23 sg:pub.10.1007/s007010070024
    24 sg:pub.10.1007/s10038-004-0143-6
    25 sg:pub.10.1007/s10143-007-0102-8
    26 sg:pub.10.1007/s11910-019-0932-0
    27 sg:pub.10.1007/s12041-013-0304-5
    28 sg:pub.10.1007/s12199-009-0116-7
    29 sg:pub.10.1007/s12199-015-0498-7
    30 sg:pub.10.1038/ejhg.2017.92
    31 sg:pub.10.1038/jhg.2010.132
    32 sg:pub.10.1038/jhg.2012.105
    33 sg:pub.10.1038/nature13127
    34 sg:pub.10.1038/nrg3908
    35 sg:pub.10.1038/nrn1106
    36 sg:pub.10.1038/s41436-019-0639-2
    37 sg:pub.10.1038/s41439-019-0066-6
    38 sg:pub.10.1038/s41598-018-22064-8
    39 sg:pub.10.1038/srep04442
    40 sg:pub.10.1038/srep13191
    41 sg:pub.10.1186/s12199-017-0680-1
    42 sg:pub.10.1186/s12881-015-0252-4
    43 sg:pub.10.1186/s12883-014-0180-5
    44 sg:pub.10.1186/s12883-020-01884-0
    45 sg:pub.10.1186/s12920-018-0385-3
    46 schema:datePublished 2021-09-16
    47 schema:datePublishedReg 2021-09-16
    48 schema:description Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive spontaneous bilateral occlusion of the intracranial internal cerebral arteries (ICA) and their major branches with compensatory capillary collaterals resembling a “puff of smoke” (Japanese: Moyamoya) on cerebral angiography. These pathological alterations of the vessels are called Moyamoya arteriopathy or vasculopathy and a further distinction is made between primary and secondary MMD. Clinical presentation depends on age and population, with hemorrhage and ischemic infarcts in particular leading to severe neurological dysfunction or even death. Although the diagnostic suspicion can be posed by MRA or CTA, cerebral angiography is mandatory for diagnostic confirmation. Since no therapy to limit the stenotic lesions or the development of a collateral network is available, the only treatment established so far is surgical revascularization. The pathophysiology still remains unknown. Due to the early age of onset, familial cases and the variable incidence rate between different ethnic groups, the focus was put on genetic aspects early on. Several genetic risk loci as well as individual risk genes have been reported; however, few of them could be replicated in independent series. Linkage studies revealed linkage to the 17q25 locus. Multiple studies on the association of SNPs and MMD have been conducted, mainly focussing on the endothelium, smooth muscle cells, cytokines and growth factors. A variant of the RNF213 gene was shown to be strongly associated with MMD with a founder effect in the East Asian population. Although it is unknown how mutations in the RNF213 gene, encoding for a ubiquitously expressed 591 kDa cytosolic protein, lead to clinical features of MMD, RNF213 has been confirmed as a susceptibility gene in several studies with a gene dosage-dependent clinical phenotype, allowing preventive screening and possibly the  development of new therapeutic approaches. This review focuses on the genetic basis of primary MMD only.
    49 schema:genre article
    50 schema:isAccessibleForFree true
    51 schema:isPartOf N6410a57d89274786aa8790f2f8747a16
    52 Nac73e8aea00a4cb1bc5b87468a43a04d
    53 sg:journal.1042288
    54 schema:keywords Asian populations
    55 CTA
    56 East Asian populations
    57 MRA
    58 RNF213
    59 RNF213 gene
    60 SNPs
    61 age
    62 age of onset
    63 alterations
    64 angiography
    65 approach
    66 arteriopathy
    67 artery
    68 aspects
    69 association
    70 association of SNPs
    71 basis
    72 bilateral occlusion
    73 branches
    74 cases
    75 cells
    76 cerebral angiography
    77 cerebral artery
    78 cerebrovascular disease
    79 clinical features
    80 clinical phenotype
    81 clinical presentation
    82 collateral network
    83 collaterals
    84 confirmation
    85 cytokines
    86 cytosolic proteins
    87 death
    88 development
    89 diagnostic confirmation
    90 diagnostic suspicion
    91 different ethnic groups
    92 disease
    93 distinction
    94 dysfunction
    95 effect
    96 endothelium
    97 ethnic groups
    98 factors
    99 familial cases
    100 features
    101 focus
    102 founder effect
    103 further distinction
    104 genes
    105 genetic aspects
    106 genetic basis
    107 genetic risk loci
    108 group
    109 growth factor
    110 hemorrhage
    111 incidence rate
    112 independent series
    113 individual risk genes
    114 infarcts
    115 internal cerebral artery
    116 ischemic infarct
    117 leading
    118 lesions
    119 linkage
    120 linkage studies
    121 loci
    122 major branches
    123 moyamoya arteriopathy
    124 moyamoya disease
    125 multiple studies
    126 muscle cells
    127 mutations
    128 network
    129 neurological dysfunction
    130 new therapeutic approaches
    131 occlusion
    132 only treatment
    133 onset
    134 particular leading
    135 pathological alterations
    136 pathophysiology
    137 phenotype
    138 population
    139 presentation
    140 preventive screening
    141 primary moyamoya disease
    142 protein
    143 puff of smoke
    144 puffs
    145 rare cerebrovascular disease
    146 rate
    147 revascularization
    148 review
    149 risk genes
    150 risk loci
    151 screening
    152 series
    153 severe neurological dysfunction
    154 smoke
    155 smooth muscle cells
    156 stenotic lesions
    157 study
    158 surgical revascularization
    159 susceptibility genes
    160 suspicion
    161 therapeutic approaches
    162 therapy
    163 treatment
    164 variable incidence rates
    165 variants
    166 vessels
    167 schema:name The Genetic Basis of Moyamoya Disease
    168 schema:pagination 25-45
    169 schema:productId N46b1fea29fb24053a54500847d65b11a
    170 Nbb45ef966d1a4efd8ba36f031a141e17
    171 Ne14549dcc89e4f9db4bbf993ae282052
    172 schema:sameAs https://app.dimensions.ai/details/publication/pub.1141152359
    173 https://doi.org/10.1007/s12975-021-00940-2
    174 schema:sdDatePublished 2022-09-02T16:06
    175 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    176 schema:sdPublisher N0d05037a48cd4350a155fe0687b0f7fa
    177 schema:url https://doi.org/10.1007/s12975-021-00940-2
    178 sgo:license sg:explorer/license/
    179 sgo:sdDataset articles
    180 rdf:type schema:ScholarlyArticle
    181 N0d05037a48cd4350a155fe0687b0f7fa schema:name Springer Nature - SN SciGraph project
    182 rdf:type schema:Organization
    183 N12fa47e1642a4f8ca7cfd15332419225 rdf:first sg:person.0773145636.21
    184 rdf:rest rdf:nil
    185 N1a508b832acc48b7b3e74f0175d71715 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    186 schema:name Adenosine Triphosphatases
    187 rdf:type schema:DefinedTerm
    188 N2a90b99ae657483985d18928168c40aa rdf:first sg:person.01313645157.41
    189 rdf:rest N48fe8c18c5b945ccaed8cbda4b52c1e4
    190 N46b1fea29fb24053a54500847d65b11a schema:name doi
    191 schema:value 10.1007/s12975-021-00940-2
    192 rdf:type schema:PropertyValue
    193 N48fe8c18c5b945ccaed8cbda4b52c1e4 rdf:first sg:person.0754535466.06
    194 rdf:rest Nca329b5b9e3f44cba450e0b885546c0f
    195 N49ba7b9d53244d66810a9260a0a613e8 rdf:first sg:person.0673132341.78
    196 rdf:rest N12fa47e1642a4f8ca7cfd15332419225
    197 N534f4d731cbf49eeb3a1b987804cab0f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    198 schema:name Genetic Predisposition to Disease
    199 rdf:type schema:DefinedTerm
    200 N6410a57d89274786aa8790f2f8747a16 schema:issueNumber 1
    201 rdf:type schema:PublicationIssue
    202 N9169ed43a79240e9af25e4a654d873a8 rdf:first sg:person.011610177264.60
    203 rdf:rest N2a90b99ae657483985d18928168c40aa
    204 Nac73e8aea00a4cb1bc5b87468a43a04d schema:volumeNumber 13
    205 rdf:type schema:PublicationVolume
    206 Nb005f52372244e28b392604f1a1d8cc5 rdf:first sg:person.01341616457.00
    207 rdf:rest Nd0711516078348c099b3fadcefb97c48
    208 Nbb45ef966d1a4efd8ba36f031a141e17 schema:name dimensions_id
    209 schema:value pub.1141152359
    210 rdf:type schema:PropertyValue
    211 Nca329b5b9e3f44cba450e0b885546c0f rdf:first sg:person.01214353316.66
    212 rdf:rest Nb005f52372244e28b392604f1a1d8cc5
    213 Nd0711516078348c099b3fadcefb97c48 rdf:first sg:person.01143036042.03
    214 rdf:rest N49ba7b9d53244d66810a9260a0a613e8
    215 Ne14549dcc89e4f9db4bbf993ae282052 schema:name pubmed_id
    216 schema:value 34529262
    217 rdf:type schema:PropertyValue
    218 Nef632dd2929e4db5bf4fd475105ee98d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    219 schema:name Humans
    220 rdf:type schema:DefinedTerm
    221 Nf436c9877e7f44a8a85004cabf8fd3b4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    222 schema:name Moyamoya Disease
    223 rdf:type schema:DefinedTerm
    224 Nf6080dfb3f8e464482bf78f428f673fb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    225 schema:name Ubiquitin-Protein Ligases
    226 rdf:type schema:DefinedTerm
    227 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    228 schema:name Medical and Health Sciences
    229 rdf:type schema:DefinedTerm
    230 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
    231 schema:name Clinical Sciences
    232 rdf:type schema:DefinedTerm
    233 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
    234 schema:name Neurosciences
    235 rdf:type schema:DefinedTerm
    236 anzsrc-for:1117 schema:inDefinedTermSet anzsrc-for:
    237 schema:name Public Health and Health Services
    238 rdf:type schema:DefinedTerm
    239 sg:journal.1042288 schema:issn 1868-4483
    240 1868-601X
    241 schema:name Translational Stroke Research
    242 schema:publisher Springer Nature
    243 rdf:type schema:Periodical
    244 sg:person.01143036042.03 schema:affiliation grid-institutes:grid.484013.a
    245 schema:familyName Mensah
    246 schema:givenName M. A.
    247 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01143036042.03
    248 rdf:type schema:Person
    249 sg:person.011610177264.60 schema:affiliation grid-institutes:grid.6363.0
    250 schema:familyName Mertens
    251 schema:givenName R.
    252 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011610177264.60
    253 rdf:type schema:Person
    254 sg:person.01214353316.66 schema:affiliation grid-institutes:grid.417894.7
    255 schema:familyName Bersano
    256 schema:givenName A.
    257 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01214353316.66
    258 rdf:type schema:Person
    259 sg:person.01313645157.41 schema:affiliation grid-institutes:grid.418284.3
    260 schema:familyName Graupera
    261 schema:givenName M.
    262 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313645157.41
    263 rdf:type schema:Person
    264 sg:person.01341616457.00 schema:affiliation grid-institutes:grid.513208.d
    265 schema:familyName Tournier-Lasserve
    266 schema:givenName E.
    267 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01341616457.00
    268 rdf:type schema:Person
    269 sg:person.0673132341.78 schema:affiliation grid-institutes:grid.419538.2
    270 schema:familyName Mundlos
    271 schema:givenName S.
    272 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673132341.78
    273 rdf:type schema:Person
    274 sg:person.0754535466.06 schema:affiliation grid-institutes:grid.419491.0
    275 schema:familyName Gerhardt
    276 schema:givenName H.
    277 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0754535466.06
    278 rdf:type schema:Person
    279 sg:person.0773145636.21 schema:affiliation grid-institutes:grid.6363.0
    280 schema:familyName Vajkoczy
    281 schema:givenName P.
    282 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773145636.21
    283 rdf:type schema:Person
    284 sg:pub.10.1007/978-3-319-73739-3_13 schema:sameAs https://app.dimensions.ai/details/publication/pub.1106466516
    285 https://doi.org/10.1007/978-3-319-73739-3_13
    286 rdf:type schema:CreativeWork
    287 sg:pub.10.1007/s00381-004-1005-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033279292
    288 https://doi.org/10.1007/s00381-004-1005-4
    289 rdf:type schema:CreativeWork
    290 sg:pub.10.1007/s00381-005-1230-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007497907
    291 https://doi.org/10.1007/s00381-005-1230-5
    292 rdf:type schema:CreativeWork
    293 sg:pub.10.1007/s00381-010-1241-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027609390
    294 https://doi.org/10.1007/s00381-010-1241-8
    295 rdf:type schema:CreativeWork
    296 sg:pub.10.1007/s00381-011-1504-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1006772567
    297 https://doi.org/10.1007/s00381-011-1504-z
    298 rdf:type schema:CreativeWork
    299 sg:pub.10.1007/s00381-018-3985-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1107372146
    300 https://doi.org/10.1007/s00381-018-3985-5
    301 rdf:type schema:CreativeWork
    302 sg:pub.10.1007/s00428-018-2501-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1110379104
    303 https://doi.org/10.1007/s00428-018-2501-3
    304 rdf:type schema:CreativeWork
    305 sg:pub.10.1007/s00701-010-0711-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007064481
    306 https://doi.org/10.1007/s00701-010-0711-9
    307 rdf:type schema:CreativeWork
    308 sg:pub.10.1007/s00701-011-1261-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018008952
    309 https://doi.org/10.1007/s00701-011-1261-5
    310 rdf:type schema:CreativeWork
    311 sg:pub.10.1007/s00701-014-2227-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005456986
    312 https://doi.org/10.1007/s00701-014-2227-1
    313 rdf:type schema:CreativeWork
    314 sg:pub.10.1007/s00701-016-2941-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1012052092
    315 https://doi.org/10.1007/s00701-016-2941-y
    316 rdf:type schema:CreativeWork
    317 sg:pub.10.1007/s00701-019-03811-w schema:sameAs https://app.dimensions.ai/details/publication/pub.1111630030
    318 https://doi.org/10.1007/s00701-019-03811-w
    319 rdf:type schema:CreativeWork
    320 sg:pub.10.1007/s007010070024 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045716519
    321 https://doi.org/10.1007/s007010070024
    322 rdf:type schema:CreativeWork
    323 sg:pub.10.1007/s10038-004-0143-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039971746
    324 https://doi.org/10.1007/s10038-004-0143-6
    325 rdf:type schema:CreativeWork
    326 sg:pub.10.1007/s10143-007-0102-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043421530
    327 https://doi.org/10.1007/s10143-007-0102-8
    328 rdf:type schema:CreativeWork
    329 sg:pub.10.1007/s11910-019-0932-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1112459867
    330 https://doi.org/10.1007/s11910-019-0932-0
    331 rdf:type schema:CreativeWork
    332 sg:pub.10.1007/s12041-013-0304-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048943076
    333 https://doi.org/10.1007/s12041-013-0304-5
    334 rdf:type schema:CreativeWork
    335 sg:pub.10.1007/s12199-009-0116-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043060373
    336 https://doi.org/10.1007/s12199-009-0116-7
    337 rdf:type schema:CreativeWork
    338 sg:pub.10.1007/s12199-015-0498-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009832586
    339 https://doi.org/10.1007/s12199-015-0498-7
    340 rdf:type schema:CreativeWork
    341 sg:pub.10.1038/ejhg.2017.92 schema:sameAs https://app.dimensions.ai/details/publication/pub.1086101860
    342 https://doi.org/10.1038/ejhg.2017.92
    343 rdf:type schema:CreativeWork
    344 sg:pub.10.1038/jhg.2010.132 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008208421
    345 https://doi.org/10.1038/jhg.2010.132
    346 rdf:type schema:CreativeWork
    347 sg:pub.10.1038/jhg.2012.105 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011434182
    348 https://doi.org/10.1038/jhg.2012.105
    349 rdf:type schema:CreativeWork
    350 sg:pub.10.1038/nature13127 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002821806
    351 https://doi.org/10.1038/nature13127
    352 rdf:type schema:CreativeWork
    353 sg:pub.10.1038/nrg3908 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033434771
    354 https://doi.org/10.1038/nrg3908
    355 rdf:type schema:CreativeWork
    356 sg:pub.10.1038/nrn1106 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011085421
    357 https://doi.org/10.1038/nrn1106
    358 rdf:type schema:CreativeWork
    359 sg:pub.10.1038/s41436-019-0639-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1120757091
    360 https://doi.org/10.1038/s41436-019-0639-2
    361 rdf:type schema:CreativeWork
    362 sg:pub.10.1038/s41439-019-0066-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1120187108
    363 https://doi.org/10.1038/s41439-019-0066-6
    364 rdf:type schema:CreativeWork
    365 sg:pub.10.1038/s41598-018-22064-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101130694
    366 https://doi.org/10.1038/s41598-018-22064-8
    367 rdf:type schema:CreativeWork
    368 sg:pub.10.1038/srep04442 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037111055
    369 https://doi.org/10.1038/srep04442
    370 rdf:type schema:CreativeWork
    371 sg:pub.10.1038/srep13191 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005954994
    372 https://doi.org/10.1038/srep13191
    373 rdf:type schema:CreativeWork
    374 sg:pub.10.1186/s12199-017-0680-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1092508458
    375 https://doi.org/10.1186/s12199-017-0680-1
    376 rdf:type schema:CreativeWork
    377 sg:pub.10.1186/s12881-015-0252-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023279061
    378 https://doi.org/10.1186/s12881-015-0252-4
    379 rdf:type schema:CreativeWork
    380 sg:pub.10.1186/s12883-014-0180-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028482765
    381 https://doi.org/10.1186/s12883-014-0180-5
    382 rdf:type schema:CreativeWork
    383 sg:pub.10.1186/s12883-020-01884-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1130204326
    384 https://doi.org/10.1186/s12883-020-01884-0
    385 rdf:type schema:CreativeWork
    386 sg:pub.10.1186/s12920-018-0385-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1106409118
    387 https://doi.org/10.1186/s12920-018-0385-3
    388 rdf:type schema:CreativeWork
    389 grid-institutes:grid.417894.7 schema:alternateName Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    390 schema:name Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    391 rdf:type schema:Organization
    392 grid-institutes:grid.418284.3 schema:alternateName Vascular Biology and Signalling Group, ProCURE, Oncobell Program, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Catalonia, Spain
    393 schema:name Vascular Biology and Signalling Group, ProCURE, Oncobell Program, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Catalonia, Spain
    394 rdf:type schema:Organization
    395 grid-institutes:grid.419491.0 schema:alternateName Integrative Vascular Biology Laboratory, Max-Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany
    396 schema:name Integrative Vascular Biology Laboratory, Max-Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany
    397 rdf:type schema:Organization
    398 grid-institutes:grid.419538.2 schema:alternateName Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany
    399 schema:name Charité–Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany
    400 Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany
    401 rdf:type schema:Organization
    402 grid-institutes:grid.484013.a schema:alternateName BIH Biomedical Innovation Academy, Digital Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany
    403 schema:name BIH Biomedical Innovation Academy, Digital Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany
    404 Charité–Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany
    405 rdf:type schema:Organization
    406 grid-institutes:grid.513208.d schema:alternateName Department of Genetics, NeuroDiderot, Lariboisière Hospital and INSERM UMR-1141, Paris-Diderot University, Paris, France
    407 schema:name Department of Genetics, NeuroDiderot, Lariboisière Hospital and INSERM UMR-1141, Paris-Diderot University, Paris, France
    408 rdf:type schema:Organization
    409 grid-institutes:grid.6363.0 schema:alternateName Charité–Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neurosurgery, Berlin, Germany
    410 schema:name Charité–Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neurosurgery, Berlin, Germany
    411 rdf:type schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...