Molecular genetics of hereditary sensory neuropathies View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2006-03

AUTHORS

Michaela Auer-Grumbach, Barbara Mauko, Piet Auer-Grumbach, Thomas R. Pieber

ABSTRACT

Hereditary sensory neuropathies (HSN), also known as hereditary sensory and autonomic neuropathies (HSAN), are a clinically and genetically heterogeneous group of disorders. They are caused by neuronal atrophy and degeneration, predominantly affecting peripheral sensory and autonomic neurons. Both congenital and juvenile to adulthood onset is possible. Currently, the classification of the HSN depends on the mode of inheritance, age at onset, and clinical presentation. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Spontaneous fractures and neuropathic arthropathy are frequent complications and often necessitate amputations. Autonomic features vary between different subgroups. Distal muscle weakness and wasting may be present and is sometimes so prominent that it becomes difficult to distinguish HSN from Charcot-Marie-Tooth syndrome. Recent major advances in molecular genetics have led to the identification of seven gene loci and six-disease causing genes for autosomal-dominant and autosomal-recessive HSN. These genes have been shown to play roles in lipid metabolism and the regulation of intracellular vesicular transport, but also a presumptive transcriptional regulator, a nerve growth factor receptor, and a nerve growth factor have been described among the causative genes in HSN. Nevertheless, it remains unclear how mutations in the known genes lead to the phenotype of HSN. In this review, we summarize the recent progress of the molecular genetics of the HSN and the implicated genes. More... »

PAGES

147-158

Identifiers

URI

http://scigraph.springernature.com/pub.10.1385/nmm:8:1-2:147

DOI

http://dx.doi.org/10.1385/nmm:8:1-2:147

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1005887450

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16775373


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/2008/1109", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Neurosciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Acyltransferases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Animals", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Carrier Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chaperonin Containing TCP-1", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chaperonins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosome Disorders", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genes, Dominant", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genes, Recessive", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hereditary Sensory and Motor Neuropathy", 
        "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": "Minor Histocompatibility Antigens", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Biology", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Nerve Growth Factor", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Nerve Tissue Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Protein Serine-Threonine Kinases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Receptor, trkA", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Serine C-Palmitoyltransferase", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Transcriptional Elongation Factors", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "WNK Lysine-Deficient Protein Kinase 1", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "rab GTP-Binding Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "rab7 GTP-Binding Proteins", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Department of Internal Medicine, Medical Research Center, Medical University of Graz, Stiftingtalstra\u00dfe 24, A-8010, Graz, Austria", 
          "id": "http://www.grid.ac/institutes/grid.11598.34", 
          "name": [
            "Department of Internal Medicine, Medical Research Center, Medical University of Graz, Stiftingtalstra\u00dfe 24, A-8010, Graz, Austria"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Auer-Grumbach", 
        "givenName": "Michaela", 
        "id": "sg:person.01102242521.30", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01102242521.30"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Internal Medicine, Medical Research Center, Medical University of Graz, Stiftingtalstra\u00dfe 24, A-8010, Graz, Austria", 
          "id": "http://www.grid.ac/institutes/grid.11598.34", 
          "name": [
            "Department of Internal Medicine, Medical Research Center, Medical University of Graz, Stiftingtalstra\u00dfe 24, A-8010, Graz, Austria"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mauko", 
        "givenName": "Barbara", 
        "id": "sg:person.01057547647.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01057547647.32"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Gesundheitszentrum Feldbach, Austria", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Gesundheitszentrum Feldbach, Austria"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Auer-Grumbach", 
        "givenName": "Piet", 
        "id": "sg:person.01325630176.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325630176.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Internal Medicine, Medical Research Center, Medical University of Graz, Stiftingtalstra\u00dfe 24, A-8010, Graz, Austria", 
          "id": "http://www.grid.ac/institutes/grid.11598.34", 
          "name": [
            "Department of Internal Medicine, Medical Research Center, Medical University of Graz, Stiftingtalstra\u00dfe 24, A-8010, Graz, Austria"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pieber", 
        "givenName": "Thomas R.", 
        "id": "sg:person.0757263437.98", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0757263437.98"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/ng0693-160", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018761573", 
          "https://doi.org/10.1038/ng0693-160"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/368246a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026063387", 
          "https://doi.org/10.1038/368246a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/14075", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003719845", 
          "https://doi.org/10.1038/14075"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0896-485", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002977118", 
          "https://doi.org/10.1038/ng0896-485"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/85879", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042479358", 
          "https://doi.org/10.1038/85879"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/85817", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017058791", 
          "https://doi.org/10.1038/85817"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01116861", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010285919", 
          "https://doi.org/10.1007/bf01116861"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2006-03", 
    "datePublishedReg": "2006-03-01", 
    "description": "Hereditary sensory neuropathies (HSN), also known as hereditary sensory and autonomic neuropathies (HSAN), are a clinically and genetically heterogeneous group of disorders. They are caused by neuronal atrophy and degeneration, predominantly affecting peripheral sensory and autonomic neurons. Both congenital and juvenile to adulthood onset is possible. Currently, the classification of the HSN depends on the mode of inheritance, age at onset, and clinical presentation. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Spontaneous fractures and neuropathic arthropathy are frequent complications and often necessitate amputations. Autonomic features vary between different subgroups. Distal muscle weakness and wasting may be present and is sometimes so prominent that it becomes difficult to distinguish HSN from Charcot-Marie-Tooth syndrome. Recent major advances in molecular genetics have led to the identification of seven gene loci and six-disease causing genes for autosomal-dominant and autosomal-recessive HSN. These genes have been shown to play roles in lipid metabolism and the regulation of intracellular vesicular transport, but also a presumptive transcriptional regulator, a nerve growth factor receptor, and a nerve growth factor have been described among the causative genes in HSN. Nevertheless, it remains unclear how mutations in the known genes lead to the phenotype of HSN. In this review, we summarize the recent progress of the molecular genetics of the HSN and the implicated genes.", 
    "genre": "article", 
    "id": "sg:pub.10.1385/nmm:8:1-2:147", 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1030361", 
        "issn": [
          "1535-1084", 
          "1559-1174"
        ], 
        "name": "NeuroMolecular Medicine", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1-2", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "8"
      }
    ], 
    "keywords": [
      "hereditary sensory neuropathy", 
      "sensory neuropathy", 
      "distal muscle weakness", 
      "nerve growth factor receptor", 
      "progressive sensory loss", 
      "chronic skin ulcers", 
      "nerve growth factor", 
      "neuropathic arthropathy", 
      "growth factor receptor", 
      "autonomic neuropathy", 
      "frequent complication", 
      "autonomic neurons", 
      "clinical presentation", 
      "sensory loss", 
      "neuronal atrophy", 
      "muscle weakness", 
      "skin ulcers", 
      "hereditary sensory", 
      "adulthood onset", 
      "tooth syndrome", 
      "spontaneous fractures", 
      "lipid metabolism", 
      "neuropathy", 
      "skin abnormalities", 
      "autonomic features", 
      "Charcot-Marie", 
      "growth factor", 
      "heterogeneous group", 
      "molecular genetics", 
      "factor receptor", 
      "hallmark feature", 
      "recent major advances", 
      "different subgroups", 
      "causative genes", 
      "mode of inheritance", 
      "major advances", 
      "onset", 
      "arthropathy", 
      "ulcers", 
      "complications", 
      "intracellular vesicular transport", 
      "atrophy", 
      "congenital", 
      "amputation", 
      "syndrome", 
      "abnormalities", 
      "genes", 
      "degeneration", 
      "neurons", 
      "wasting", 
      "receptors", 
      "disorders", 
      "age", 
      "sensory", 
      "subgroups", 
      "gene locus", 
      "presentation", 
      "metabolism", 
      "transcriptional regulators", 
      "genetics", 
      "vesicular transport", 
      "phenotype", 
      "fractures", 
      "review", 
      "group", 
      "mutations", 
      "factors", 
      "role", 
      "weakness", 
      "regulation", 
      "regulator", 
      "loss", 
      "features", 
      "advances", 
      "identification", 
      "recent progress", 
      "classification", 
      "inheritance", 
      "progress", 
      "loci", 
      "transport", 
      "mode"
    ], 
    "name": "Molecular genetics of hereditary sensory neuropathies", 
    "pagination": "147-158", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1005887450"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1385/nmm:8:1-2:147"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "16775373"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1385/nmm:8:1-2:147", 
      "https://app.dimensions.ai/details/publication/pub.1005887450"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-12-01T06:25", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20221201/entities/gbq_results/article/article_424.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1385/nmm:8:1-2:147"
  }
]
 

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.10.1385/nmm:8:1-2:147'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1385/nmm:8:1-2:147'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1385/nmm:8:1-2:147'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1385/nmm:8:1-2:147'


 

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

295 TRIPLES      21 PREDICATES      140 URIs      125 LITERALS      32 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1385/nmm:8:1-2:147 schema:about N00d3d5195a904b0e9252e080c607e878
2 N1d38fcc9ca0c4317812f3ce23998bf52
3 N2e6d33a66be543438ae5e74e98d9828e
4 N2f052b27d8e5403583dd8fb040317660
5 N3da6cf1ef27a4e0ebd734401fa3ea33c
6 N466b51e0b4d849408274c33fab2c9e45
7 N4a7687069b2d491fad44befe3638acbd
8 N5dc5334cf3f142de8a326772861ffa52
9 N6902a8d46d9f4ea4ad17181506815f3b
10 N71f91b02921c4945bdea9555c67a60de
11 N729404f56390405e90a3ca5fd16c1377
12 N73d75ea4f4c042afa0dea1940ad3acbe
13 N74e9e4c9f0aa4465a1be5176f11b9475
14 N8e531aeedafc4fe699d73d34840e0e5f
15 Na2d7d92dc3ac4a3894fe9e42ed3f0d5e
16 Na3bb4cd331014fdcbb5765642624e760
17 Na4e9287e22fc4cf3b8701ea7f40b5218
18 Nb57b896a8fa74e9a921434ef36d7dcd1
19 Nbde5c582bcb544598531a709dd06c818
20 Nc4ffd2374a5b48c3ae248392c8190477
21 Nc885838900eb455aa5ef2e2fc637d6fe
22 Ne1e8ab7d06e14c1b8892f00c95b0d98b
23 Ne3891782065641f0a732235898fab60a
24 Ne7bbfec413814826899143549472c68b
25 Nec67a3019347419e92babd09f57b25d2
26 anzsrc-for:11
27 anzsrc-for:1109
28 schema:author N136446ddab9943ce9daac3ffc65d4c16
29 schema:citation sg:pub.10.1007/bf01116861
30 sg:pub.10.1038/14075
31 sg:pub.10.1038/368246a0
32 sg:pub.10.1038/85817
33 sg:pub.10.1038/85879
34 sg:pub.10.1038/ng0693-160
35 sg:pub.10.1038/ng0896-485
36 schema:datePublished 2006-03
37 schema:datePublishedReg 2006-03-01
38 schema:description Hereditary sensory neuropathies (HSN), also known as hereditary sensory and autonomic neuropathies (HSAN), are a clinically and genetically heterogeneous group of disorders. They are caused by neuronal atrophy and degeneration, predominantly affecting peripheral sensory and autonomic neurons. Both congenital and juvenile to adulthood onset is possible. Currently, the classification of the HSN depends on the mode of inheritance, age at onset, and clinical presentation. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Spontaneous fractures and neuropathic arthropathy are frequent complications and often necessitate amputations. Autonomic features vary between different subgroups. Distal muscle weakness and wasting may be present and is sometimes so prominent that it becomes difficult to distinguish HSN from Charcot-Marie-Tooth syndrome. Recent major advances in molecular genetics have led to the identification of seven gene loci and six-disease causing genes for autosomal-dominant and autosomal-recessive HSN. These genes have been shown to play roles in lipid metabolism and the regulation of intracellular vesicular transport, but also a presumptive transcriptional regulator, a nerve growth factor receptor, and a nerve growth factor have been described among the causative genes in HSN. Nevertheless, it remains unclear how mutations in the known genes lead to the phenotype of HSN. In this review, we summarize the recent progress of the molecular genetics of the HSN and the implicated genes.
39 schema:genre article
40 schema:isAccessibleForFree false
41 schema:isPartOf N2863735b6d714951b7d7553f40f3a26e
42 Ned8ac8de25974b11994429510a18c63f
43 sg:journal.1030361
44 schema:keywords Charcot-Marie
45 abnormalities
46 adulthood onset
47 advances
48 age
49 amputation
50 arthropathy
51 atrophy
52 autonomic features
53 autonomic neurons
54 autonomic neuropathy
55 causative genes
56 chronic skin ulcers
57 classification
58 clinical presentation
59 complications
60 congenital
61 degeneration
62 different subgroups
63 disorders
64 distal muscle weakness
65 factor receptor
66 factors
67 features
68 fractures
69 frequent complication
70 gene locus
71 genes
72 genetics
73 group
74 growth factor
75 growth factor receptor
76 hallmark feature
77 hereditary sensory
78 hereditary sensory neuropathy
79 heterogeneous group
80 identification
81 inheritance
82 intracellular vesicular transport
83 lipid metabolism
84 loci
85 loss
86 major advances
87 metabolism
88 mode
89 mode of inheritance
90 molecular genetics
91 muscle weakness
92 mutations
93 nerve growth factor
94 nerve growth factor receptor
95 neuronal atrophy
96 neurons
97 neuropathic arthropathy
98 neuropathy
99 onset
100 phenotype
101 presentation
102 progress
103 progressive sensory loss
104 recent major advances
105 recent progress
106 receptors
107 regulation
108 regulator
109 review
110 role
111 sensory
112 sensory loss
113 sensory neuropathy
114 skin abnormalities
115 skin ulcers
116 spontaneous fractures
117 subgroups
118 syndrome
119 tooth syndrome
120 transcriptional regulators
121 transport
122 ulcers
123 vesicular transport
124 wasting
125 weakness
126 schema:name Molecular genetics of hereditary sensory neuropathies
127 schema:pagination 147-158
128 schema:productId N26ae72e525014365814c2dc62f7b89be
129 N518fb52ce1464534b6fe256412a068fa
130 Nf1db59ad9401496f98ff63d2f593b85c
131 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005887450
132 https://doi.org/10.1385/nmm:8:1-2:147
133 schema:sdDatePublished 2022-12-01T06:25
134 schema:sdLicense https://scigraph.springernature.com/explorer/license/
135 schema:sdPublisher Nba8b796fdc94497d8e709b0fb53630e9
136 schema:url https://doi.org/10.1385/nmm:8:1-2:147
137 sgo:license sg:explorer/license/
138 sgo:sdDataset articles
139 rdf:type schema:ScholarlyArticle
140 N00d3d5195a904b0e9252e080c607e878 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
141 schema:name Transcriptional Elongation Factors
142 rdf:type schema:DefinedTerm
143 N136446ddab9943ce9daac3ffc65d4c16 rdf:first sg:person.01102242521.30
144 rdf:rest N667c0c00428f43358772d9c3ccedea7c
145 N1d38fcc9ca0c4317812f3ce23998bf52 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
146 schema:name Molecular Biology
147 rdf:type schema:DefinedTerm
148 N26ae72e525014365814c2dc62f7b89be schema:name dimensions_id
149 schema:value pub.1005887450
150 rdf:type schema:PropertyValue
151 N2863735b6d714951b7d7553f40f3a26e schema:volumeNumber 8
152 rdf:type schema:PublicationVolume
153 N2e6d33a66be543438ae5e74e98d9828e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
154 schema:name Mutation
155 rdf:type schema:DefinedTerm
156 N2f052b27d8e5403583dd8fb040317660 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
157 schema:name rab GTP-Binding Proteins
158 rdf:type schema:DefinedTerm
159 N3da6cf1ef27a4e0ebd734401fa3ea33c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
160 schema:name Genes, Recessive
161 rdf:type schema:DefinedTerm
162 N425b0f978dae4ddca1be17f7897bf8c3 rdf:first sg:person.0757263437.98
163 rdf:rest rdf:nil
164 N466b51e0b4d849408274c33fab2c9e45 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
165 schema:name Carrier Proteins
166 rdf:type schema:DefinedTerm
167 N4a7687069b2d491fad44befe3638acbd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
168 schema:name Nerve Growth Factor
169 rdf:type schema:DefinedTerm
170 N518fb52ce1464534b6fe256412a068fa schema:name pubmed_id
171 schema:value 16775373
172 rdf:type schema:PropertyValue
173 N5dc5334cf3f142de8a326772861ffa52 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
174 schema:name Serine C-Palmitoyltransferase
175 rdf:type schema:DefinedTerm
176 N667c0c00428f43358772d9c3ccedea7c rdf:first sg:person.01057547647.32
177 rdf:rest N8b57871f87ca4085a81dd214cc6c563e
178 N6902a8d46d9f4ea4ad17181506815f3b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
179 schema:name WNK Lysine-Deficient Protein Kinase 1
180 rdf:type schema:DefinedTerm
181 N71f91b02921c4945bdea9555c67a60de schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
182 schema:name Genotype
183 rdf:type schema:DefinedTerm
184 N729404f56390405e90a3ca5fd16c1377 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
185 schema:name Genes, Dominant
186 rdf:type schema:DefinedTerm
187 N73d75ea4f4c042afa0dea1940ad3acbe schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
188 schema:name Minor Histocompatibility Antigens
189 rdf:type schema:DefinedTerm
190 N74e9e4c9f0aa4465a1be5176f11b9475 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
191 schema:name Chromosome Disorders
192 rdf:type schema:DefinedTerm
193 N8b57871f87ca4085a81dd214cc6c563e rdf:first sg:person.01325630176.42
194 rdf:rest N425b0f978dae4ddca1be17f7897bf8c3
195 N8e531aeedafc4fe699d73d34840e0e5f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
196 schema:name Protein Serine-Threonine Kinases
197 rdf:type schema:DefinedTerm
198 Na2d7d92dc3ac4a3894fe9e42ed3f0d5e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
199 schema:name Animals
200 rdf:type schema:DefinedTerm
201 Na3bb4cd331014fdcbb5765642624e760 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
202 schema:name Acyltransferases
203 rdf:type schema:DefinedTerm
204 Na4e9287e22fc4cf3b8701ea7f40b5218 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
205 schema:name Chaperonins
206 rdf:type schema:DefinedTerm
207 Nb57b896a8fa74e9a921434ef36d7dcd1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
208 schema:name Phenotype
209 rdf:type schema:DefinedTerm
210 Nba8b796fdc94497d8e709b0fb53630e9 schema:name Springer Nature - SN SciGraph project
211 rdf:type schema:Organization
212 Nbde5c582bcb544598531a709dd06c818 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
213 schema:name Hereditary Sensory and Motor Neuropathy
214 rdf:type schema:DefinedTerm
215 Nc4ffd2374a5b48c3ae248392c8190477 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
216 schema:name rab7 GTP-Binding Proteins
217 rdf:type schema:DefinedTerm
218 Nc885838900eb455aa5ef2e2fc637d6fe schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
219 schema:name Nerve Tissue Proteins
220 rdf:type schema:DefinedTerm
221 Ne1e8ab7d06e14c1b8892f00c95b0d98b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
222 schema:name Receptor, trkA
223 rdf:type schema:DefinedTerm
224 Ne3891782065641f0a732235898fab60a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
225 schema:name Chaperonin Containing TCP-1
226 rdf:type schema:DefinedTerm
227 Ne7bbfec413814826899143549472c68b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
228 schema:name Humans
229 rdf:type schema:DefinedTerm
230 Nec67a3019347419e92babd09f57b25d2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
231 schema:name Intracellular Signaling Peptides and Proteins
232 rdf:type schema:DefinedTerm
233 Ned8ac8de25974b11994429510a18c63f schema:issueNumber 1-2
234 rdf:type schema:PublicationIssue
235 Nf1db59ad9401496f98ff63d2f593b85c schema:name doi
236 schema:value 10.1385/nmm:8:1-2:147
237 rdf:type schema:PropertyValue
238 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
239 schema:name Medical and Health Sciences
240 rdf:type schema:DefinedTerm
241 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
242 schema:name Neurosciences
243 rdf:type schema:DefinedTerm
244 sg:journal.1030361 schema:issn 1535-1084
245 1559-1174
246 schema:name NeuroMolecular Medicine
247 schema:publisher Springer Nature
248 rdf:type schema:Periodical
249 sg:person.01057547647.32 schema:affiliation grid-institutes:grid.11598.34
250 schema:familyName Mauko
251 schema:givenName Barbara
252 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01057547647.32
253 rdf:type schema:Person
254 sg:person.01102242521.30 schema:affiliation grid-institutes:grid.11598.34
255 schema:familyName Auer-Grumbach
256 schema:givenName Michaela
257 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01102242521.30
258 rdf:type schema:Person
259 sg:person.01325630176.42 schema:affiliation grid-institutes:None
260 schema:familyName Auer-Grumbach
261 schema:givenName Piet
262 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325630176.42
263 rdf:type schema:Person
264 sg:person.0757263437.98 schema:affiliation grid-institutes:grid.11598.34
265 schema:familyName Pieber
266 schema:givenName Thomas R.
267 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0757263437.98
268 rdf:type schema:Person
269 sg:pub.10.1007/bf01116861 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010285919
270 https://doi.org/10.1007/bf01116861
271 rdf:type schema:CreativeWork
272 sg:pub.10.1038/14075 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003719845
273 https://doi.org/10.1038/14075
274 rdf:type schema:CreativeWork
275 sg:pub.10.1038/368246a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026063387
276 https://doi.org/10.1038/368246a0
277 rdf:type schema:CreativeWork
278 sg:pub.10.1038/85817 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017058791
279 https://doi.org/10.1038/85817
280 rdf:type schema:CreativeWork
281 sg:pub.10.1038/85879 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042479358
282 https://doi.org/10.1038/85879
283 rdf:type schema:CreativeWork
284 sg:pub.10.1038/ng0693-160 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018761573
285 https://doi.org/10.1038/ng0693-160
286 rdf:type schema:CreativeWork
287 sg:pub.10.1038/ng0896-485 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002977118
288 https://doi.org/10.1038/ng0896-485
289 rdf:type schema:CreativeWork
290 grid-institutes:None schema:alternateName Gesundheitszentrum Feldbach, Austria
291 schema:name Gesundheitszentrum Feldbach, Austria
292 rdf:type schema:Organization
293 grid-institutes:grid.11598.34 schema:alternateName Department of Internal Medicine, Medical Research Center, Medical University of Graz, Stiftingtalstraße 24, A-8010, Graz, Austria
294 schema:name Department of Internal Medicine, Medical Research Center, Medical University of Graz, Stiftingtalstraße 24, A-8010, Graz, Austria
295 rdf:type schema:Organization
 




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


...