SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-01

AUTHORS

Andreea Manole, Alejandro Horga, Josep Gamez, Nuria Raguer, Maria Salvado, Beatriz San Millán, Carmen Navarro, Alan Pittmann, Mary M. Reilly, Henry Houlden

ABSTRACT

Biallelic mutations in the SBF1 gene have been identified in one family with demyelinating Charcot-Marie-Tooth disease (CMT4B3) and two families with axonal neuropathy and additional neurological and skeletal features. Here we describe novel sequence variants in SBF1 (c.1168C>G and c.2209_2210del) as the potential causative mutations in two siblings with severe axonal neuropathy, hearing loss, facial weakness and bulbar features. Pathogenicity of these variants is supported by co-segregation and in silico analyses and evolutionary conservation. Our findings suggest that SBF1 mutations may cause a syndromic form of autosomal recessive axonal neuropathy (AR-CMT2) in addition to CMT4B3. More... »

PAGES

63-67

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10048-016-0505-1

DOI

http://dx.doi.org/10.1007/s10048-016-0505-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1033224434

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28005197


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/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Atrophy", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Axons", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Charcot-Marie-Tooth Disease", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cranial Nerve Diseases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cranial Nerves", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genes, Recessive", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hearing Loss", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Intracellular Signaling Peptides and Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation, Missense", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Nervous System Malformations", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Siblings", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK", 
            "Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Manole", 
        "givenName": "Andreea", 
        "id": "sg:person.07631372631.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07631372631.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Horga", 
        "givenName": "Alejandro", 
        "id": "sg:person.0772613353.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0772613353.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Vall d'Hebron Research Institute", 
          "id": "https://www.grid.ac/institutes/grid.430994.3", 
          "name": [
            "Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitari Vall d\u2019Hebron and Universitat Aut\u00f2noma de Barcelona, VHIR, Passeig Vall d\u2019Hebron, 119\u2013135, 08035, Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gamez", 
        "givenName": "Josep", 
        "id": "sg:person.01127466751.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127466751.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Vall d'Hebron Research Institute", 
          "id": "https://www.grid.ac/institutes/grid.430994.3", 
          "name": [
            "Department of Neurophysiology, Hospital Universitari Vall d\u2019Hebron and Universitat Aut\u00f2noma de Barcelona, VHIR, Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Raguer", 
        "givenName": "Nuria", 
        "id": "sg:person.0721752461.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0721752461.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Vall d'Hebron Research Institute", 
          "id": "https://www.grid.ac/institutes/grid.430994.3", 
          "name": [
            "Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitari Vall d\u2019Hebron and Universitat Aut\u00f2noma de Barcelona, VHIR, Passeig Vall d\u2019Hebron, 119\u2013135, 08035, Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Salvado", 
        "givenName": "Maria", 
        "id": "sg:person.01362260214.76", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01362260214.76"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Complex Of Vigo", 
          "id": "https://www.grid.ac/institutes/grid.411855.c", 
          "name": [
            "Department of Neuropathology, Complejo Hospitalario Universitario de Vigo, Vigo, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "San Mill\u00e1n", 
        "givenName": "Beatriz", 
        "id": "sg:person.0764160106.94", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0764160106.94"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Complex Of Vigo", 
          "id": "https://www.grid.ac/institutes/grid.411855.c", 
          "name": [
            "Department of Neuropathology, Complejo Hospitalario Universitario de Vigo, Vigo, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Navarro", 
        "givenName": "Carmen", 
        "id": "sg:person.01072173750.77", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072173750.77"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pittmann", 
        "givenName": "Alan", 
        "id": "sg:person.015047614105.30", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015047614105.30"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Reilly", 
        "givenName": "Mary M.", 
        "id": "sg:person.010034273157.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010034273157.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK", 
            "Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Houlden", 
        "givenName": "Henry", 
        "id": "sg:person.010023016364.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010023016364.28"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.molmed.2012.04.004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006877692"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddg273", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007136551"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/375034", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007349634"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/375034", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007349634"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000000331", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013692032"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000000331", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013692032"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000000331", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013692032"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.r110.217067", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016750637"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.2010.01524.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025146246"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.2010.01524.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025146246"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awr184", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029794362"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/75542", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034020226", 
          "https://doi.org/10.1038/75542"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/75542", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034020226", 
          "https://doi.org/10.1038/75542"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.33417", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039922409"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddg030", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048290224"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.0431052100", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050015050"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/nxg.0000000000000061", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050359671"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/nxg.0000000000000061", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050359671"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000133211.40288.9a", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064346205"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000133211.40288.9a", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064346205"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000133211.40288.9a", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064346205"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000133211.40288.9a", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064346205"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e31829a3421", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064357833"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e31829a3421", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064357833"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e31829a3421", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064357833"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2017-01", 
    "datePublishedReg": "2017-01-01", 
    "description": "Biallelic mutations in the SBF1 gene have been identified in one family with demyelinating Charcot-Marie-Tooth disease (CMT4B3) and two families with axonal neuropathy and additional neurological and skeletal features. Here we describe novel sequence variants in SBF1 (c.1168C>G and c.2209_2210del) as the potential causative mutations in two siblings with severe axonal neuropathy, hearing loss, facial weakness and bulbar features. Pathogenicity of these variants is supported by co-segregation and in silico analyses and evolutionary conservation. Our findings suggest that SBF1 mutations may cause a syndromic form of autosomal recessive axonal neuropathy (AR-CMT2) in addition to CMT4B3.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s10048-016-0505-1", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2761631", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2759668", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2764842", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2777284", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1117081", 
        "issn": [
          "1364-6745", 
          "1364-6753"
        ], 
        "name": "neurogenetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "18"
      }
    ], 
    "name": "SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement", 
    "pagination": "63-67", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "9e46c962f32896ebbf3a032de7b2c07fd682aa6c8a565a771f61156765ec373f"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "28005197"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9709714"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s10048-016-0505-1"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1033224434"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s10048-016-0505-1", 
      "https://app.dimensions.ai/details/publication/pub.1033224434"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T10:39", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000349_0000000349/records_113679_00000001.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1007%2Fs10048-016-0505-1"
  }
]
 

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/s10048-016-0505-1'

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/s10048-016-0505-1'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10048-016-0505-1'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10048-016-0505-1'


 

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

251 TRIPLES      21 PREDICATES      58 URIs      36 LITERALS      24 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s10048-016-0505-1 schema:about N118f236220e04d7bb93e04718396b6d3
2 N1640421209494589be7fd5b2931d9dcf
3 N1b4b3b77f5474144a63a0b6011690b82
4 N1b628365fe29424d9a835a873e4f4f8c
5 N22cf554fd8734904a0fdff54eec8dc92
6 N34845340b9b94cccb3635f74728fcf15
7 N403dbf917cc24d35b5810351de925cbe
8 N79523c717e9a4796bfab02e60f619249
9 N7b8df685adfd44a8bb61be7e03d7802e
10 N80cbe20a36e747ec807b458a7d549abd
11 N86c091ede09f475683de401386bc10eb
12 N98cbad0a62f84097bdbb09da17c9855a
13 N9e6342c6a5e74be8ad441c1a4233b374
14 Ncad4a4c4aa65479a821bc7f865d93a93
15 Ne40add2a3e1247f1893d185b94a21dc2
16 anzsrc-for:06
17 anzsrc-for:0604
18 schema:author N28a06062f3c149e0802f31d495e8282d
19 schema:citation sg:pub.10.1038/75542
20 https://doi.org/10.1002/ajmg.a.33417
21 https://doi.org/10.1016/j.molmed.2012.04.004
22 https://doi.org/10.1073/pnas.0431052100
23 https://doi.org/10.1074/jbc.r110.217067
24 https://doi.org/10.1086/375034
25 https://doi.org/10.1093/brain/awr184
26 https://doi.org/10.1093/hmg/ddg030
27 https://doi.org/10.1093/hmg/ddg273
28 https://doi.org/10.1111/j.1399-0004.2010.01524.x
29 https://doi.org/10.1212/01.wnl.0000133211.40288.9a
30 https://doi.org/10.1212/nxg.0000000000000061
31 https://doi.org/10.1212/wnl.0000000000000331
32 https://doi.org/10.1212/wnl.0b013e31829a3421
33 schema:datePublished 2017-01
34 schema:datePublishedReg 2017-01-01
35 schema:description Biallelic mutations in the SBF1 gene have been identified in one family with demyelinating Charcot-Marie-Tooth disease (CMT4B3) and two families with axonal neuropathy and additional neurological and skeletal features. Here we describe novel sequence variants in SBF1 (c.1168C>G and c.2209_2210del) as the potential causative mutations in two siblings with severe axonal neuropathy, hearing loss, facial weakness and bulbar features. Pathogenicity of these variants is supported by co-segregation and in silico analyses and evolutionary conservation. Our findings suggest that SBF1 mutations may cause a syndromic form of autosomal recessive axonal neuropathy (AR-CMT2) in addition to CMT4B3.
36 schema:genre research_article
37 schema:inLanguage en
38 schema:isAccessibleForFree true
39 schema:isPartOf N9d2c7a2d1bb44ded800f247cbe2c06c8
40 Na1ff282a07e84826b7b3398aa0756e23
41 sg:journal.1117081
42 schema:name SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement
43 schema:pagination 63-67
44 schema:productId N0baafb9c54804da697c6d8cf3d006e16
45 N28c82311039c47b3aa13889ffe4c7da8
46 N8435c6c9770b46f38c29582efe939468
47 Nb32a04668a5e4ac6958e920c5f9aff76
48 Ndb323202a09b48fdaf2a59696ac7a05e
49 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033224434
50 https://doi.org/10.1007/s10048-016-0505-1
51 schema:sdDatePublished 2019-04-11T10:39
52 schema:sdLicense https://scigraph.springernature.com/explorer/license/
53 schema:sdPublisher N663058288789448ebe2698098316d7d8
54 schema:url https://link.springer.com/10.1007%2Fs10048-016-0505-1
55 sgo:license sg:explorer/license/
56 sgo:sdDataset articles
57 rdf:type schema:ScholarlyArticle
58 N0baafb9c54804da697c6d8cf3d006e16 schema:name pubmed_id
59 schema:value 28005197
60 rdf:type schema:PropertyValue
61 N118f236220e04d7bb93e04718396b6d3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
62 schema:name Cranial Nerve Diseases
63 rdf:type schema:DefinedTerm
64 N1640421209494589be7fd5b2931d9dcf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
65 schema:name Intracellular Signaling Peptides and Proteins
66 rdf:type schema:DefinedTerm
67 N1b4b3b77f5474144a63a0b6011690b82 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
68 schema:name Mutation, Missense
69 rdf:type schema:DefinedTerm
70 N1b628365fe29424d9a835a873e4f4f8c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
71 schema:name Siblings
72 rdf:type schema:DefinedTerm
73 N22cf554fd8734904a0fdff54eec8dc92 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
74 schema:name Cranial Nerves
75 rdf:type schema:DefinedTerm
76 N28a06062f3c149e0802f31d495e8282d rdf:first sg:person.07631372631.13
77 rdf:rest Ncfbc594e6908423294b8d34e9d523000
78 N28c82311039c47b3aa13889ffe4c7da8 schema:name readcube_id
79 schema:value 9e46c962f32896ebbf3a032de7b2c07fd682aa6c8a565a771f61156765ec373f
80 rdf:type schema:PropertyValue
81 N33ce6b8705404a70abac01533868de43 rdf:first sg:person.01072173750.77
82 rdf:rest N8088e23f4714452eb74a1beb6094313f
83 N34845340b9b94cccb3635f74728fcf15 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
84 schema:name Genes, Recessive
85 rdf:type schema:DefinedTerm
86 N403dbf917cc24d35b5810351de925cbe schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
87 schema:name Nervous System Malformations
88 rdf:type schema:DefinedTerm
89 N5dff570c956e48549e8dbd9d8fd33066 rdf:first sg:person.01127466751.34
90 rdf:rest N738f1e5071da4c87bc5f8c26dcba835d
91 N663058288789448ebe2698098316d7d8 schema:name Springer Nature - SN SciGraph project
92 rdf:type schema:Organization
93 N738f1e5071da4c87bc5f8c26dcba835d rdf:first sg:person.0721752461.31
94 rdf:rest N8055a8379bae4a6682a0dc32e893ca1a
95 N79523c717e9a4796bfab02e60f619249 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
96 schema:name Male
97 rdf:type schema:DefinedTerm
98 N7b8df685adfd44a8bb61be7e03d7802e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
99 schema:name Humans
100 rdf:type schema:DefinedTerm
101 N8055a8379bae4a6682a0dc32e893ca1a rdf:first sg:person.01362260214.76
102 rdf:rest N8ea305d8bde543a59e38333146594db6
103 N8088e23f4714452eb74a1beb6094313f rdf:first sg:person.015047614105.30
104 rdf:rest Nc0b8026a8a1945a7b1bc9931e36b8b89
105 N80cbe20a36e747ec807b458a7d549abd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Adult
107 rdf:type schema:DefinedTerm
108 N8435c6c9770b46f38c29582efe939468 schema:name doi
109 schema:value 10.1007/s10048-016-0505-1
110 rdf:type schema:PropertyValue
111 N86c091ede09f475683de401386bc10eb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
112 schema:name Charcot-Marie-Tooth Disease
113 rdf:type schema:DefinedTerm
114 N8ea305d8bde543a59e38333146594db6 rdf:first sg:person.0764160106.94
115 rdf:rest N33ce6b8705404a70abac01533868de43
116 N98cbad0a62f84097bdbb09da17c9855a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
117 schema:name Atrophy
118 rdf:type schema:DefinedTerm
119 N9d2c7a2d1bb44ded800f247cbe2c06c8 schema:volumeNumber 18
120 rdf:type schema:PublicationVolume
121 N9e6342c6a5e74be8ad441c1a4233b374 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name Pedigree
123 rdf:type schema:DefinedTerm
124 Na1ff282a07e84826b7b3398aa0756e23 schema:issueNumber 1
125 rdf:type schema:PublicationIssue
126 Nb32a04668a5e4ac6958e920c5f9aff76 schema:name dimensions_id
127 schema:value pub.1033224434
128 rdf:type schema:PropertyValue
129 Nc0b8026a8a1945a7b1bc9931e36b8b89 rdf:first sg:person.010034273157.52
130 rdf:rest Ne5be1358e0ce4d65bab59018ef0ebc4f
131 Ncad4a4c4aa65479a821bc7f865d93a93 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Axons
133 rdf:type schema:DefinedTerm
134 Ncfbc594e6908423294b8d34e9d523000 rdf:first sg:person.0772613353.18
135 rdf:rest N5dff570c956e48549e8dbd9d8fd33066
136 Ndb323202a09b48fdaf2a59696ac7a05e schema:name nlm_unique_id
137 schema:value 9709714
138 rdf:type schema:PropertyValue
139 Ne40add2a3e1247f1893d185b94a21dc2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
140 schema:name Hearing Loss
141 rdf:type schema:DefinedTerm
142 Ne5be1358e0ce4d65bab59018ef0ebc4f rdf:first sg:person.010023016364.28
143 rdf:rest rdf:nil
144 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
145 schema:name Biological Sciences
146 rdf:type schema:DefinedTerm
147 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
148 schema:name Genetics
149 rdf:type schema:DefinedTerm
150 sg:grant.2759668 http://pending.schema.org/fundedItem sg:pub.10.1007/s10048-016-0505-1
151 rdf:type schema:MonetaryGrant
152 sg:grant.2761631 http://pending.schema.org/fundedItem sg:pub.10.1007/s10048-016-0505-1
153 rdf:type schema:MonetaryGrant
154 sg:grant.2764842 http://pending.schema.org/fundedItem sg:pub.10.1007/s10048-016-0505-1
155 rdf:type schema:MonetaryGrant
156 sg:grant.2777284 http://pending.schema.org/fundedItem sg:pub.10.1007/s10048-016-0505-1
157 rdf:type schema:MonetaryGrant
158 sg:journal.1117081 schema:issn 1364-6745
159 1364-6753
160 schema:name neurogenetics
161 rdf:type schema:Periodical
162 sg:person.010023016364.28 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
163 schema:familyName Houlden
164 schema:givenName Henry
165 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010023016364.28
166 rdf:type schema:Person
167 sg:person.010034273157.52 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
168 schema:familyName Reilly
169 schema:givenName Mary M.
170 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010034273157.52
171 rdf:type schema:Person
172 sg:person.01072173750.77 schema:affiliation https://www.grid.ac/institutes/grid.411855.c
173 schema:familyName Navarro
174 schema:givenName Carmen
175 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072173750.77
176 rdf:type schema:Person
177 sg:person.01127466751.34 schema:affiliation https://www.grid.ac/institutes/grid.430994.3
178 schema:familyName Gamez
179 schema:givenName Josep
180 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127466751.34
181 rdf:type schema:Person
182 sg:person.01362260214.76 schema:affiliation https://www.grid.ac/institutes/grid.430994.3
183 schema:familyName Salvado
184 schema:givenName Maria
185 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01362260214.76
186 rdf:type schema:Person
187 sg:person.015047614105.30 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
188 schema:familyName Pittmann
189 schema:givenName Alan
190 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015047614105.30
191 rdf:type schema:Person
192 sg:person.0721752461.31 schema:affiliation https://www.grid.ac/institutes/grid.430994.3
193 schema:familyName Raguer
194 schema:givenName Nuria
195 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0721752461.31
196 rdf:type schema:Person
197 sg:person.07631372631.13 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
198 schema:familyName Manole
199 schema:givenName Andreea
200 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07631372631.13
201 rdf:type schema:Person
202 sg:person.0764160106.94 schema:affiliation https://www.grid.ac/institutes/grid.411855.c
203 schema:familyName San Millán
204 schema:givenName Beatriz
205 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0764160106.94
206 rdf:type schema:Person
207 sg:person.0772613353.18 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
208 schema:familyName Horga
209 schema:givenName Alejandro
210 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0772613353.18
211 rdf:type schema:Person
212 sg:pub.10.1038/75542 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034020226
213 https://doi.org/10.1038/75542
214 rdf:type schema:CreativeWork
215 https://doi.org/10.1002/ajmg.a.33417 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039922409
216 rdf:type schema:CreativeWork
217 https://doi.org/10.1016/j.molmed.2012.04.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006877692
218 rdf:type schema:CreativeWork
219 https://doi.org/10.1073/pnas.0431052100 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050015050
220 rdf:type schema:CreativeWork
221 https://doi.org/10.1074/jbc.r110.217067 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016750637
222 rdf:type schema:CreativeWork
223 https://doi.org/10.1086/375034 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007349634
224 rdf:type schema:CreativeWork
225 https://doi.org/10.1093/brain/awr184 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029794362
226 rdf:type schema:CreativeWork
227 https://doi.org/10.1093/hmg/ddg030 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048290224
228 rdf:type schema:CreativeWork
229 https://doi.org/10.1093/hmg/ddg273 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007136551
230 rdf:type schema:CreativeWork
231 https://doi.org/10.1111/j.1399-0004.2010.01524.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1025146246
232 rdf:type schema:CreativeWork
233 https://doi.org/10.1212/01.wnl.0000133211.40288.9a schema:sameAs https://app.dimensions.ai/details/publication/pub.1064346205
234 rdf:type schema:CreativeWork
235 https://doi.org/10.1212/nxg.0000000000000061 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050359671
236 rdf:type schema:CreativeWork
237 https://doi.org/10.1212/wnl.0000000000000331 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013692032
238 rdf:type schema:CreativeWork
239 https://doi.org/10.1212/wnl.0b013e31829a3421 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064357833
240 rdf:type schema:CreativeWork
241 https://www.grid.ac/institutes/grid.411855.c schema:alternateName University Hospital Complex Of Vigo
242 schema:name Department of Neuropathology, Complejo Hospitalario Universitario de Vigo, Vigo, Spain
243 rdf:type schema:Organization
244 https://www.grid.ac/institutes/grid.430994.3 schema:alternateName Vall d'Hebron Research Institute
245 schema:name Department of Neurophysiology, Hospital Universitari Vall d’Hebron and Universitat Autònoma de Barcelona, VHIR, Barcelona, Spain
246 Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitari Vall d’Hebron and Universitat Autònoma de Barcelona, VHIR, Passeig Vall d’Hebron, 119–135, 08035, Barcelona, Spain
247 rdf:type schema:Organization
248 https://www.grid.ac/institutes/grid.83440.3b schema:alternateName University College London
249 schema:name Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK
250 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK
251 rdf:type schema:Organization
 




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


...