Olaf Riess


Ontology type: schema:Person     


Person Info

NAME

Olaf

SURNAME

Riess

Publications in SciGraph latest 50 shown

  • 2018-12 First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications in BMC MEDICAL GENETICS
  • 2018-12 Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)? in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2018-12 Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history in BMC CANCER
  • 2018-11 Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant in NEUROLOGICAL SCIENCES
  • 2018-06 RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-12 Reduced cell size, chromosomal aberration and altered proliferation rates are characteristics and confounding factors in the STHdh cell model of Huntington disease in SCIENTIFIC REPORTS
  • 2016-11 The risk of re-identification versus the need to identify individuals in rare disease research in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-09 Improving the informed consent process in international collaborative rare disease research: effective consent for effective research in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-07 International Charter of principles for sharing bio-specimens and data in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-10 Next-generation sequencing in X-linked intellectual disability in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-08 Complexin-1 and Foxp1 Expression Changes Are Novel Brain Effects of Alpha-Synuclein Pathology in MOLECULAR NEUROBIOLOGY
  • 2015-07 HBOC multi-gene panel testing: comparison of two sequencing centers in BREAST CANCER RESEARCH AND TREATMENT
  • 2015-06 International Charter of principles for sharing bio-specimens and data in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-12 Präkonzeptionelle und vorgeburtliche klinische Genomsequenzierung in MEDIZINISCHE GENETIK
  • 2014-10 Genome-wide UPD screening in patients with intellectual disability in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-04 Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias in THE CEREBELLUM
  • 2014-04 Mitochondrial proteolytic stress induced by loss of mortalin function is rescued by Parkin and PINK1 in CELL DEATH & DISEASE
  • 2014-03 Somatische Tumormutationen eröffnen neue Therapieoptionen in BIOSPEKTRUM
  • 2013-06 Hereditäre Ataxien in MEDIZINISCHE GENETIK
  • 2012-12 Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients in BMC MEDICAL GENETICS
  • 2012-11 First German Academy for Further Medical Training on Rare Diseases (FAKSE,http://www.fakse.info) in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-02 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) in NEUROGENETICS
  • 2011-12 A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients in ORPHANET JOURNAL OF RARE DISEASES
  • 2011-12 Localization of sequence variations in PGC-1α influence their modifying effect in Huntington disease in MOLECULAR NEURODEGENERATION
  • 2011-06 Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-04-19 1st INCF Workshop on Genetic Animal Models for Brain Diseases in NATURE PRECEDINGS
  • 2011-04-19 1st INCF Workshop on Genetic Animal Models for Brain Diseases in NATURE PRECEDINGS
  • 2010-10 Age at onset in Huntington’s disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7 in HUMAN GENETICS
  • 2010-09 Induction of STAT3-related genes in fast degenerating cone photoreceptors of cpfl1 mice in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 2010-09 Behandlungs- und Forschungszentrum für Seltene Erkrankungen Tübingen in MEDIZINISCHE GENETIK
  • 2010-09 A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-07 High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays in BREAST CANCER RESEARCH AND TREATMENT
  • 2010-05 Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease in NEUROGENETICS
  • 2010-02 Transgenic overexpression of the alpha-synuclein interacting protein synphilin-1 leads to behavioral and neuropathological alterations in mice in NEUROGENETICS
  • 2009-12-28 Structural and Functional Phenotyping in the Cone-Specific Photoreceptor Function Loss 1 (cpfl1) Mouse Mutant – A Model of Cone Dystrophies in RETINAL DEGENERATIVE DISEASES
  • 2009-12 Genome-wide association study reveals genetic risk underlying Parkinson's disease in NATURE GENETICS
  • 2009-10-28 Neurobehavioral Tests in Rat Models of Degenerative Brain Diseases in RAT GENOMICS
  • 2009-07 Genetic analysis of heme oxygenase-1 (HO-1) in German Parkinson’s disease patients in JOURNAL OF NEURAL TRANSMISSION
  • 2009-04 Genetic analysis of coding SNPs in blood-brain barrier transporter MDR1 in European Parkinson’s disease patients in JOURNAL OF NEURAL TRANSMISSION
  • 2009-02 Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization in NEUROGENETICS
  • 2008-12 Molekulare Karyotypisierung in der klinischen Anwendung in MEDIZINISCHE GENETIK
  • 2008-08 A comprehensive genetic study of the proteasomal subunit S6 ATPase in German Parkinson’s disease patients in JOURNAL OF NEURAL TRANSMISSION
  • 2008-07 Microarray expression analysis reveals genetic pathways implicated in C621 synphilin-1-mediated toxicity in JOURNAL OF NEURAL TRANSMISSION
  • 2008-06 SCA3: Neurological features, pathogenesis and animal models in THE CEREBELLUM
  • 2008-05 Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2008-05 RNA interference of LRRK2–microarray expression analysis of a Parkinson’s disease key player in NEUROGENETICS
  • 2007-04 Whole genome expression analyses of single- and double-knock-out mice implicate partially overlapping functions of alpha- and gamma-synuclein in NEUROGENETICS
  • 2007-01 Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-12 Mutation analysis of the seven in absentia homolog 1 (SIAH1) gene in Parkinson’s disease in JOURNAL OF NEURAL TRANSMISSION
  • 2006-03 Disturbance of iron metabolism in Parkinson’s disease — ultrasonography as a biomarker in NEUROTOXICITY RESEARCH
  • 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", 
        "affiliation": [
          {
            "affiliation": {
              "id": "https://www.grid.ac/institutes/grid.10392.39", 
              "type": "Organization"
            }, 
            "isCurrent": true, 
            "type": "OrganizationRole"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.5330.5", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.416957.8", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.17091.3e", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.440279.c", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.21604.31", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.5570.7", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.10493.3f", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.7468.d", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.411544.1", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.462501.4", 
            "type": "Organization"
          }
        ], 
        "familyName": "Riess", 
        "givenName": "Olaf", 
        "id": "sg:person.0765131731.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765131731.22"
        ], 
        "sdDataset": "persons", 
        "sdDatePublished": "2019-03-07T15:09", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-researchers-20181010/20181011/dim_researchers/base/researchers_844.json", 
        "type": "Person"
      }
    ]
     

    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/person.0765131731.22'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/person.0765131731.22'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/person.0765131731.22'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/person.0765131731.22'


     

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

    36 TRIPLES      10 PREDICATES      21 URIs      7 LITERALS      2 BLANK NODES

    Subject Predicate Object
    1 sg:person.0765131731.22 schema:affiliation Ndd6d552c73b441ffb5501bd6879f323f
    2 https://www.grid.ac/institutes/grid.10493.3f
    3 https://www.grid.ac/institutes/grid.17091.3e
    4 https://www.grid.ac/institutes/grid.21604.31
    5 https://www.grid.ac/institutes/grid.411544.1
    6 https://www.grid.ac/institutes/grid.416957.8
    7 https://www.grid.ac/institutes/grid.440279.c
    8 https://www.grid.ac/institutes/grid.462501.4
    9 https://www.grid.ac/institutes/grid.5330.5
    10 https://www.grid.ac/institutes/grid.5570.7
    11 https://www.grid.ac/institutes/grid.7468.d
    12 schema:familyName Riess
    13 schema:givenName Olaf
    14 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765131731.22
    15 schema:sdDatePublished 2019-03-07T15:09
    16 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    17 schema:sdPublisher Nfae9f9007ecb471fab5f6218b051c713
    18 sgo:license sg:explorer/license/
    19 sgo:sdDataset persons
    20 rdf:type schema:Person
    21 Ndd6d552c73b441ffb5501bd6879f323f schema:affiliation https://www.grid.ac/institutes/grid.10392.39
    22 sgo:isCurrent true
    23 rdf:type schema:OrganizationRole
    24 Nfae9f9007ecb471fab5f6218b051c713 schema:name Springer Nature - SN SciGraph project
    25 rdf:type schema:Organization
    26 https://www.grid.ac/institutes/grid.10392.39 schema:Organization
    27 https://www.grid.ac/institutes/grid.10493.3f schema:Organization
    28 https://www.grid.ac/institutes/grid.17091.3e schema:Organization
    29 https://www.grid.ac/institutes/grid.21604.31 schema:Organization
    30 https://www.grid.ac/institutes/grid.411544.1 schema:Organization
    31 https://www.grid.ac/institutes/grid.416957.8 schema:Organization
    32 https://www.grid.ac/institutes/grid.440279.c schema:Organization
    33 https://www.grid.ac/institutes/grid.462501.4 schema:Organization
    34 https://www.grid.ac/institutes/grid.5330.5 schema:Organization
    35 https://www.grid.ac/institutes/grid.5570.7 schema:Organization
    36 https://www.grid.ac/institutes/grid.7468.d schema:Organization
     




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


    ...