Barbara Castellotti


Ontology type: schema:Person     


Person Info

NAME

Barbara

SURNAME

Castellotti

Publications in SciGraph latest 50 shown

  • 2018-10 Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy in NEUROTHERAPEUTICS
  • 2018-08 Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating in MOLECULAR NEUROBIOLOGY
  • 2016-11 ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-09 NEK1 variants confer susceptibility to amyotrophic lateral sclerosis in NATURE GENETICS
  • 2015-12 Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report in BMC PEDIATRICS
  • 2015-05 TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations in JOURNAL OF NEUROLOGY
  • 2013-11 Granny trips down: is she carrying the big bad wolf? in NEUROLOGICAL SCIENCES
  • 2012-12 Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-12 Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect in NEUROLOGICAL SCIENCES
  • 2011-08 Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients in NEUROGENETICS
  • 2010-04 Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 in NATURE GENETICS
  • 2008-02 Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis in NEUROGENETICS
  • 2007-11 Frataxin gene point mutations in Italian Friedreich ataxia patients in NEUROGENETICS
  • 2004-07 Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families in NEUROLOGICAL SCIENCES
  • 1999-05 Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes in JOURNAL OF NEUROLOGY
  • 1998-12 Clinical and genetic study of a family with spinocerebellar ataxia type 1 (SCA1) and beta-thalassemia in NEUROLOGICAL SCIENCES
  • 1995-09 Kennedy's disease: clinical and molecular study of two Italian families in NEUROLOGICAL SCIENCES
  • 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.417894.7", 
              "type": "Organization"
            }, 
            "isCurrent": true, 
            "type": "OrganizationRole"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.429254.c", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.414603.4", 
            "type": "Organization"
          }
        ], 
        "familyName": "Castellotti", 
        "givenName": "Barbara", 
        "id": "sg:person.0731106670.80", 
        "identifier": {
          "name": "orcid_id", 
          "type": "PropertyValue", 
          "value": [
            "0000-0002-9098-3041"
          ]
        }, 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0731106670.80", 
          "https://orcid.org/0000-0002-9098-3041"
        ], 
        "sdDataset": "persons", 
        "sdDatePublished": "2019-03-07T14:43", 
        "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_471.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.0731106670.80'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/person.0731106670.80'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/person.0731106670.80'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/person.0731106670.80'


     

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

    25 TRIPLES      11 PREDICATES      15 URIs      8 LITERALS      3 BLANK NODES

    Subject Predicate Object
    1 sg:person.0731106670.80 schema:affiliation N41198b56cf274c7ab1e9ef2d9bc3b3db
    2 https://www.grid.ac/institutes/grid.414603.4
    3 https://www.grid.ac/institutes/grid.429254.c
    4 schema:familyName Castellotti
    5 schema:givenName Barbara
    6 schema:identifier N816c7b6772904018b79269b42174d754
    7 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0731106670.80
    8 https://orcid.org/0000-0002-9098-3041
    9 schema:sdDatePublished 2019-03-07T14:43
    10 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    11 schema:sdPublisher N563e7e2d1dd643da8ba2f0f31da4bb85
    12 sgo:license sg:explorer/license/
    13 sgo:sdDataset persons
    14 rdf:type schema:Person
    15 N41198b56cf274c7ab1e9ef2d9bc3b3db schema:affiliation https://www.grid.ac/institutes/grid.417894.7
    16 sgo:isCurrent true
    17 rdf:type schema:OrganizationRole
    18 N563e7e2d1dd643da8ba2f0f31da4bb85 schema:name Springer Nature - SN SciGraph project
    19 rdf:type schema:Organization
    20 N816c7b6772904018b79269b42174d754 schema:name orcid_id
    21 schema:value 0000-0002-9098-3041
    22 rdf:type schema:PropertyValue
    23 https://www.grid.ac/institutes/grid.414603.4 schema:Organization
    24 https://www.grid.ac/institutes/grid.417894.7 schema:Organization
    25 https://www.grid.ac/institutes/grid.429254.c schema:Organization
     




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


    ...