Cognitive impairment profile in adult patients with Niemann pick type C disease View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-12

AUTHORS

Camille Heitz, Stéphane Epelbaum, Yann Nadjar

ABSTRACT

BACKGROUND: Cognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available. The aim of our study was to characterize cognitive impairments in NPC disease and to assess the evolution of these symptoms and the impact of miglustat on cognitive follow-up. METHODS: We conducted a retrospective study of 21 adult patients diagnosed with NPC disease. Neuropsychological data (global cognitive efficiency, language, attention, executive functions, praxis, and visuoconstructive functions tests) were retrieved to describe the cognitive profile of patients. Cognitive impairment scores over time were assessed under treatment by miglustat. RESULTS: The majority of patients (90%) were impaired in one or more cognitive function. Executive functions and attention were the most impaired cognitive functions. Conversely, storage in the episodic memory was preserved in 61.5% of cases. Mean neuropsychological scores were stable during the period under miglustat (mean of 3.8 years). CONCLUSIONS: This study is one of the first to assess the cognitive profile of adult NPC patients. This profile is not specific to attention and executive dysfunctions; however, the preservation of storage in the episodic memory is promising for cognitive remediation. Further studies are needed to confirm the role of miglustat on cognition, but in this study, patients were stable under this treatment. More... »

PAGES

166

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13023-017-0714-1

DOI

http://dx.doi.org/10.1186/s13023-017-0714-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1092273615

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29047377


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/2008/1701", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Psychology", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/17", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Psychology and Cognitive Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cognitive Dysfunction", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Middle Aged", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Niemann-Pick Disease, Type C", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Retrospective Studies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Young Adult", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of N\u00eemes", 
          "id": "https://www.grid.ac/institutes/grid.48959.39", 
          "name": [
            "Neurology Department, H\u00f4pital Universitaire de N\u00eemes, N\u00eemes, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Heitz", 
        "givenName": "Camille", 
        "id": "sg:person.014201540113.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014201540113.46"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411439.a", 
          "name": [
            "Neurology Department, Reference Center for Lysosomal Diseases, Hospital of Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Epelbaum", 
        "givenName": "St\u00e9phane", 
        "id": "sg:person.0710476534.33", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0710476534.33"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411439.a", 
          "name": [
            "Neurology Department, Reference Center for Lysosomal Diseases, Hospital of Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nadjar", 
        "givenName": "Yann", 
        "id": "sg:person.0577175521.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0577175521.63"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.ymgme.2009.12.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004339200"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3174/ajnr.a3356", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005616940"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1750-1172-5-16", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005623887", 
          "https://doi.org/10.1186/1750-1172-5-16"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1037/h0059831", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006505954"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/01688638408401233", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006586473"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/mds.10541", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006635563"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-006-0417-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017657360", 
          "https://doi.org/10.1007/s10545-006-0417-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jns.2006.05.054", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018549022"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1474-4422(07)70194-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021955671"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/87565648709540361", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024836159"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0022-3956(75)90026-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027523106"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s11011-012-9332-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027604820", 
          "https://doi.org/10.1007/s11011-012-9332-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.nbd.2014.05.033", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039785101"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jnnp.2006.109074", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042602974"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1750-1172-8-35", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042851446", 
          "https://doi.org/10.1186/1750-1172-8-35"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0929-6646(11)60080-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044931066"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.pediatrneurol.2010.08.004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045461060"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awl260", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052588466"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e3181e6210e", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064355370"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e3181e6210e", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064355370"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e3181e6210e", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064355370"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.55.11.1621", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064378773"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3978/j.issn.2305-5839.2015.12.04", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1079216643"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-017-0579-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083403203", 
          "https://doi.org/10.1186/s13023-017-0579-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-017-0579-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083403203", 
          "https://doi.org/10.1186/s13023-017-0579-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/02643294.2017.1340264", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090391568"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/02643294.2017.1340264", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090391568"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/8904_2017_42", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090659534", 
          "https://doi.org/10.1007/8904_2017_42"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2017-12", 
    "datePublishedReg": "2017-12-01", 
    "description": "BACKGROUND: Cognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available. The aim of our study was to characterize cognitive impairments in NPC disease and to assess the evolution of these symptoms and the impact of miglustat on cognitive follow-up.\nMETHODS: We conducted a retrospective study of 21 adult patients diagnosed with NPC disease. Neuropsychological data (global cognitive efficiency, language, attention, executive functions, praxis, and visuoconstructive functions tests) were retrieved to describe the cognitive profile of patients. Cognitive impairment scores over time were assessed under treatment by miglustat.\nRESULTS: The majority of patients (90%) were impaired in one or more cognitive function. Executive functions and attention were the most impaired cognitive functions. Conversely, storage in the episodic memory was preserved in 61.5% of cases. Mean neuropsychological scores were stable during the period under miglustat (mean of 3.8\u00a0years).\nCONCLUSIONS: This study is one of the first to assess the cognitive profile of adult NPC patients. This profile is not specific to attention and executive dysfunctions; however, the preservation of storage in the episodic memory is promising for cognitive remediation. Further studies are needed to confirm the role of miglustat on cognition, but in this study, patients were stable under this treatment.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/s13023-017-0714-1", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1036535", 
        "issn": [
          "1750-1172"
        ], 
        "name": "Orphanet Journal of Rare Diseases", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "12"
      }
    ], 
    "name": "Cognitive impairment profile in adult patients with Niemann pick type C disease", 
    "pagination": "166", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "da5f16c81e5b55a1b925414c53817b078aeceefce3d219d0f2022fe91d8105fe"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "29047377"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101266602"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s13023-017-0714-1"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1092273615"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s13023-017-0714-1", 
      "https://app.dimensions.ai/details/publication/pub.1092273615"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T00:25", 
    "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/v90/0000000001_0000000264/records_8695_00000564.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1186%2Fs13023-017-0714-1"
  }
]
 

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.10.1186/s13023-017-0714-1'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13023-017-0714-1'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13023-017-0714-1'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13023-017-0714-1'


 

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

199 TRIPLES      21 PREDICATES      62 URIs      30 LITERALS      18 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s13023-017-0714-1 schema:about N2a876fdbd4ae40469734e041a2829f11
2 N2c69e3c481f04cd8a4dcbef42fd47e96
3 N413b406478eb4cdd9ba8291c5c1175a4
4 Na514eb5a48574e0aba4ba98b2e6f84d5
5 Naa8418a8267a44ecb1a6a8d943c8f7d3
6 Nb7d69a9980b44bfc8c5fc461ed6e4771
7 Nedc92729b1cf4235a720f5f799509296
8 Nf2ccb58e7cb0415184b9ffc733a8e096
9 Nf587fb9d7bc048ee9592e3033223204c
10 anzsrc-for:17
11 anzsrc-for:1701
12 schema:author Nf326840badb7419fbd2391c8bb32d454
13 schema:citation sg:pub.10.1007/8904_2017_42
14 sg:pub.10.1007/s10545-006-0417-6
15 sg:pub.10.1007/s11011-012-9332-8
16 sg:pub.10.1186/1750-1172-5-16
17 sg:pub.10.1186/1750-1172-8-35
18 sg:pub.10.1186/s13023-017-0579-3
19 https://doi.org/10.1002/mds.10541
20 https://doi.org/10.1016/0022-3956(75)90026-6
21 https://doi.org/10.1016/j.jns.2006.05.054
22 https://doi.org/10.1016/j.nbd.2014.05.033
23 https://doi.org/10.1016/j.pediatrneurol.2010.08.004
24 https://doi.org/10.1016/j.ymgme.2009.12.006
25 https://doi.org/10.1016/s0929-6646(11)60080-6
26 https://doi.org/10.1016/s1474-4422(07)70194-1
27 https://doi.org/10.1037/h0059831
28 https://doi.org/10.1080/01688638408401233
29 https://doi.org/10.1080/02643294.2017.1340264
30 https://doi.org/10.1080/87565648709540361
31 https://doi.org/10.1093/brain/awl260
32 https://doi.org/10.1136/jnnp.2006.109074
33 https://doi.org/10.1212/wnl.0b013e3181e6210e
34 https://doi.org/10.1212/wnl.55.11.1621
35 https://doi.org/10.3174/ajnr.a3356
36 https://doi.org/10.3978/j.issn.2305-5839.2015.12.04
37 schema:datePublished 2017-12
38 schema:datePublishedReg 2017-12-01
39 schema:description BACKGROUND: Cognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available. The aim of our study was to characterize cognitive impairments in NPC disease and to assess the evolution of these symptoms and the impact of miglustat on cognitive follow-up. METHODS: We conducted a retrospective study of 21 adult patients diagnosed with NPC disease. Neuropsychological data (global cognitive efficiency, language, attention, executive functions, praxis, and visuoconstructive functions tests) were retrieved to describe the cognitive profile of patients. Cognitive impairment scores over time were assessed under treatment by miglustat. RESULTS: The majority of patients (90%) were impaired in one or more cognitive function. Executive functions and attention were the most impaired cognitive functions. Conversely, storage in the episodic memory was preserved in 61.5% of cases. Mean neuropsychological scores were stable during the period under miglustat (mean of 3.8 years). CONCLUSIONS: This study is one of the first to assess the cognitive profile of adult NPC patients. This profile is not specific to attention and executive dysfunctions; however, the preservation of storage in the episodic memory is promising for cognitive remediation. Further studies are needed to confirm the role of miglustat on cognition, but in this study, patients were stable under this treatment.
40 schema:genre research_article
41 schema:inLanguage en
42 schema:isAccessibleForFree true
43 schema:isPartOf N85b3c1343c124d298fd331ca6549a68d
44 Nc1f79938fe034458b4813f44027e613d
45 sg:journal.1036535
46 schema:name Cognitive impairment profile in adult patients with Niemann pick type C disease
47 schema:pagination 166
48 schema:productId N14f03203cc2846a189cd85c0288f511b
49 N27a2c2181dba4f0a823626bcd75d1507
50 N7f605493a8134a7ca00578aee3a40045
51 N9c58c043b42d4b96a40c21fc19d8a8c2
52 Nb0360a82c1fe48789dfe6e93a70c8d7a
53 schema:sameAs https://app.dimensions.ai/details/publication/pub.1092273615
54 https://doi.org/10.1186/s13023-017-0714-1
55 schema:sdDatePublished 2019-04-11T00:25
56 schema:sdLicense https://scigraph.springernature.com/explorer/license/
57 schema:sdPublisher N1cdb66a284e14a1c94fcea9d7fd5111a
58 schema:url https://link.springer.com/10.1186%2Fs13023-017-0714-1
59 sgo:license sg:explorer/license/
60 sgo:sdDataset articles
61 rdf:type schema:ScholarlyArticle
62 N14f03203cc2846a189cd85c0288f511b schema:name doi
63 schema:value 10.1186/s13023-017-0714-1
64 rdf:type schema:PropertyValue
65 N1cdb66a284e14a1c94fcea9d7fd5111a schema:name Springer Nature - SN SciGraph project
66 rdf:type schema:Organization
67 N27a2c2181dba4f0a823626bcd75d1507 schema:name dimensions_id
68 schema:value pub.1092273615
69 rdf:type schema:PropertyValue
70 N2a876fdbd4ae40469734e041a2829f11 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
71 schema:name Retrospective Studies
72 rdf:type schema:DefinedTerm
73 N2c69e3c481f04cd8a4dcbef42fd47e96 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
74 schema:name Female
75 rdf:type schema:DefinedTerm
76 N413b406478eb4cdd9ba8291c5c1175a4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
77 schema:name Middle Aged
78 rdf:type schema:DefinedTerm
79 N6bf39535d3314916ab58a21ee8613284 rdf:first sg:person.0577175521.63
80 rdf:rest rdf:nil
81 N7f605493a8134a7ca00578aee3a40045 schema:name nlm_unique_id
82 schema:value 101266602
83 rdf:type schema:PropertyValue
84 N85b3c1343c124d298fd331ca6549a68d schema:issueNumber 1
85 rdf:type schema:PublicationIssue
86 N9c58c043b42d4b96a40c21fc19d8a8c2 schema:name pubmed_id
87 schema:value 29047377
88 rdf:type schema:PropertyValue
89 Na514eb5a48574e0aba4ba98b2e6f84d5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
90 schema:name Adult
91 rdf:type schema:DefinedTerm
92 Naa8418a8267a44ecb1a6a8d943c8f7d3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
93 schema:name Young Adult
94 rdf:type schema:DefinedTerm
95 Nb0360a82c1fe48789dfe6e93a70c8d7a schema:name readcube_id
96 schema:value da5f16c81e5b55a1b925414c53817b078aeceefce3d219d0f2022fe91d8105fe
97 rdf:type schema:PropertyValue
98 Nb7d69a9980b44bfc8c5fc461ed6e4771 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
99 schema:name Niemann-Pick Disease, Type C
100 rdf:type schema:DefinedTerm
101 Nc1f79938fe034458b4813f44027e613d schema:volumeNumber 12
102 rdf:type schema:PublicationVolume
103 Ne1d9613a6ca34b5fa2cc18615e66373d rdf:first sg:person.0710476534.33
104 rdf:rest N6bf39535d3314916ab58a21ee8613284
105 Nedc92729b1cf4235a720f5f799509296 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Male
107 rdf:type schema:DefinedTerm
108 Nf2ccb58e7cb0415184b9ffc733a8e096 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
109 schema:name Cognitive Dysfunction
110 rdf:type schema:DefinedTerm
111 Nf326840badb7419fbd2391c8bb32d454 rdf:first sg:person.014201540113.46
112 rdf:rest Ne1d9613a6ca34b5fa2cc18615e66373d
113 Nf587fb9d7bc048ee9592e3033223204c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name Humans
115 rdf:type schema:DefinedTerm
116 anzsrc-for:17 schema:inDefinedTermSet anzsrc-for:
117 schema:name Psychology and Cognitive Sciences
118 rdf:type schema:DefinedTerm
119 anzsrc-for:1701 schema:inDefinedTermSet anzsrc-for:
120 schema:name Psychology
121 rdf:type schema:DefinedTerm
122 sg:journal.1036535 schema:issn 1750-1172
123 schema:name Orphanet Journal of Rare Diseases
124 rdf:type schema:Periodical
125 sg:person.014201540113.46 schema:affiliation https://www.grid.ac/institutes/grid.48959.39
126 schema:familyName Heitz
127 schema:givenName Camille
128 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014201540113.46
129 rdf:type schema:Person
130 sg:person.0577175521.63 schema:affiliation https://www.grid.ac/institutes/grid.411439.a
131 schema:familyName Nadjar
132 schema:givenName Yann
133 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0577175521.63
134 rdf:type schema:Person
135 sg:person.0710476534.33 schema:affiliation https://www.grid.ac/institutes/grid.411439.a
136 schema:familyName Epelbaum
137 schema:givenName Stéphane
138 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0710476534.33
139 rdf:type schema:Person
140 sg:pub.10.1007/8904_2017_42 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090659534
141 https://doi.org/10.1007/8904_2017_42
142 rdf:type schema:CreativeWork
143 sg:pub.10.1007/s10545-006-0417-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017657360
144 https://doi.org/10.1007/s10545-006-0417-6
145 rdf:type schema:CreativeWork
146 sg:pub.10.1007/s11011-012-9332-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027604820
147 https://doi.org/10.1007/s11011-012-9332-8
148 rdf:type schema:CreativeWork
149 sg:pub.10.1186/1750-1172-5-16 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005623887
150 https://doi.org/10.1186/1750-1172-5-16
151 rdf:type schema:CreativeWork
152 sg:pub.10.1186/1750-1172-8-35 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042851446
153 https://doi.org/10.1186/1750-1172-8-35
154 rdf:type schema:CreativeWork
155 sg:pub.10.1186/s13023-017-0579-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083403203
156 https://doi.org/10.1186/s13023-017-0579-3
157 rdf:type schema:CreativeWork
158 https://doi.org/10.1002/mds.10541 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006635563
159 rdf:type schema:CreativeWork
160 https://doi.org/10.1016/0022-3956(75)90026-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027523106
161 rdf:type schema:CreativeWork
162 https://doi.org/10.1016/j.jns.2006.05.054 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018549022
163 rdf:type schema:CreativeWork
164 https://doi.org/10.1016/j.nbd.2014.05.033 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039785101
165 rdf:type schema:CreativeWork
166 https://doi.org/10.1016/j.pediatrneurol.2010.08.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045461060
167 rdf:type schema:CreativeWork
168 https://doi.org/10.1016/j.ymgme.2009.12.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004339200
169 rdf:type schema:CreativeWork
170 https://doi.org/10.1016/s0929-6646(11)60080-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044931066
171 rdf:type schema:CreativeWork
172 https://doi.org/10.1016/s1474-4422(07)70194-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021955671
173 rdf:type schema:CreativeWork
174 https://doi.org/10.1037/h0059831 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006505954
175 rdf:type schema:CreativeWork
176 https://doi.org/10.1080/01688638408401233 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006586473
177 rdf:type schema:CreativeWork
178 https://doi.org/10.1080/02643294.2017.1340264 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090391568
179 rdf:type schema:CreativeWork
180 https://doi.org/10.1080/87565648709540361 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024836159
181 rdf:type schema:CreativeWork
182 https://doi.org/10.1093/brain/awl260 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052588466
183 rdf:type schema:CreativeWork
184 https://doi.org/10.1136/jnnp.2006.109074 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042602974
185 rdf:type schema:CreativeWork
186 https://doi.org/10.1212/wnl.0b013e3181e6210e schema:sameAs https://app.dimensions.ai/details/publication/pub.1064355370
187 rdf:type schema:CreativeWork
188 https://doi.org/10.1212/wnl.55.11.1621 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064378773
189 rdf:type schema:CreativeWork
190 https://doi.org/10.3174/ajnr.a3356 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005616940
191 rdf:type schema:CreativeWork
192 https://doi.org/10.3978/j.issn.2305-5839.2015.12.04 schema:sameAs https://app.dimensions.ai/details/publication/pub.1079216643
193 rdf:type schema:CreativeWork
194 https://www.grid.ac/institutes/grid.411439.a schema:alternateName Pitié-Salpêtrière Hospital
195 schema:name Neurology Department, Reference Center for Lysosomal Diseases, Hospital of Pitié-Salpêtrière, Paris, France
196 rdf:type schema:Organization
197 https://www.grid.ac/institutes/grid.48959.39 schema:alternateName University of Nîmes
198 schema:name Neurology Department, Hôpital Universitaire de Nîmes, Nîmes, France
199 rdf:type schema:Organization
 




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


...