About: Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

scientific article published on 19 December 2018

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в грудні 2018 (uk) article scientifique publié en 2018 (fr) im Dezember 2018 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'avientu de 2018 (ast) scientific article published on 19 December 2018 (en)
publication date	wds:Q60043860-A6647282-684B-43B5-B8B5-212ED19A6CCE
publication date	2018-12-19 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q60043860-1D704FD4-D4DD-4CDB-B5D8-F8915A554717
language of work or name	English
exact match	wds:Q60043860-09A49800-061B-4DC6-B328-82063D9AFC4C
exact match	https://scigraph.springernature.com/pub.10.1186/s40478-018-0648-4
cites work	wds:Q60043860-08D68A7E-292C-438E-A249-1CBB42F9FA00 wds:Q60043860-28F01F85-8F1D-4F80-B787-0EE86A0188DD wds:Q60043860-3E982C53-7AF0-4257-A00E-3AADE6FFB795 wds:Q60043860-69048F3D-874C-4EF9-9A65-9FCF534E9E7C wds:Q60043860-699D0053-B84B-443C-AD6B-905CABFC131E wds:Q60043860-717C7E7E-F51E-4DC2-AEC0-45748D35DBAE wds:Q60043860-72B74790-64D7-4939-9752-DD9D80A0A569 wds:Q60043860-75F539BC-CD4B-4BE4-9614-42219A272527 wds:Q60043860-78581E54-F8FA-477D-B92F-F1317EB12DBE wds:Q60043860-7C00E2DD-BD0F-422B-8CA5-843D19B80A65 wds:Q60043860-7F573A1A-3805-40A0-B411-01024E1AF971 wds:Q60043860-A2D05680-FB84-482D-A75E-509DE1E523DF wds:Q60043860-B895C685-B973-4044-BF39-78AE3C2FF4CC wds:Q60043860-E9F76A7A-87DB-4AB8-A331-61F678C84C56
cites work	Clinical trial in Duchenne dystrophy. I. The design of the protocol Management of progressive muscular dystrophy in childhood On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Structural basis for nuclear import of splicing factors by human Transportin 3 A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F Genetic basis of limb-girdle muscular dystrophies: the 2014 update Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome) Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation Ultrastructural changes in LGMD1F No need for more muscle biopsies in members of the Spanish LGMD1F family. The gene has been identified at last
author name string	wds:Q60043860-02FB7E3A-0740-4F1F-A966-EBE591D0AAF7 wds:Q60043860-1C3CD3AC-B973-4226-A730-08586336F5E8 wds:Q60043860-1F38B33D-61E8-487D-8549-63A7E4894C64 wds:Q60043860-588E59A6-547C-4246-A8B2-DEC0B0DBFC50 wds:Q60043860-68F53F37-2899-4625-A81F-BF56698FE4D2 wds:Q60043860-6C162DD2-F433-48FA-BE86-D6057269EF8F wds:Q60043860-B3577F13-E3D6-4AF2-9E18-616C2A1A6ACB
author name string	Flavia Blasevich Lorenzo Maggi Vincenzo Nigro Maurizio Moggio Lucia Morandi Simona Saredi Franco Salerno
rdfs:label	Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient (en) Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient (nl)
skos:prefLabel	Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient (en) Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient (nl)
name	Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient (en) Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient (nl)
author	wds:Q60043860-52A00EEC-7358-4BD5-800A-A0A9CE6402CE wds:Q60043860-A0DDE115-443D-4561-B44D-67965CB66EBB wds:Q60043860-B62DDD1F-6433-4E5A-84D3-3A41141BE0B5 wds:Q60043860-BDA2DDFE-75B1-4AB6-8735-1F8C7165CE2B
author	Marina Mora Alessandra Ruggieri Sara Gibertini Laura Napoli
title	wds:Q60043860-0D89A1EB-983B-4663-B0CA-2C33D130AEFF
title	Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient (en)
page(s)	wds:Q60043860-7C93856A-ADD6-4590-B4FE-EE3638F53FF7
page(s)	141
instance of	wds:Q60043860-BA5C6005-7F0D-4F82-876A-B7DA2A91DEE7
instance of	scholarly article
PubMed ID	wds:Q60043860-6204C7D0-7A99-4514-8EBB-E3023F4D9931
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/30567601
PubMed ID	30567601
published in	wds:Q60043860-0C2AE557-9040-4DF6-9838-BDBE05025274
published in	Acta Neuropathologica Communications
issue	wds:Q60043860-A180DD63-3436-4655-A99A-A4271E0534CD
volume	wds:Q60043860-2755A5F9-5E40-4532-878A-D64A8CB8961C
issue	1
volume	6
DOI	wds:Q60043860-6CE234A8-2FE1-4AA8-AF6C-D6C078B28D70
DOI	http://dx.doi.org/10.1186/S40478-018-0648-4
DOI	10.1186/S40478-018-0648-4
copyright license	wds:Q60043860-a68777fc-19a2-4967-aa8e-c8b350976b38
copyright status	wds:Q60043860-064556bc-154e-43cf-b8f3-9d949d4bcdbb
copyright license	Creative Commons Attribution 4.0 International
copyright status	copyrighted
Dimensions Publication ID	wds:Q60043860-095BBA76-9A3B-400B-9488-B85C1807EFE8
Dimensions Publication ID	1110759454
PMCID	wds:Q60043860-96A8A34B-B778-43D6-8C5F-36D01674424B
PMCID	6299540
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q60043860
is cites work of	Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression.
is cites work of	wds:Q64911892-5A52B008-CE39-45A8-9A76-A9AE12F4DBC0

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 183 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software