onr:"swepub:oai:gup.ub.gu.se/320205"
Sökning: onr:"swepub:oai:gup.ub.gu.se/320205" > Genotype-phenotype ...
- 1 av 1
- Föregående post
- Nästa post
- Till träfflistan
| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 06848naa a2201333 4500 | |
| 001 | oai:gup.ub.gu.se/320205 | |
| 003 | SwePub | |
| 008 | 240528s2022 | |||||||||||000 ||eng| | |
| 009 | oai:lup.lub.lu.se:da561e48-25bd-4558-8ef0-f78863747ce5 | |
| 024 | 7 | a https://gup.ub.gu.se/publication/3202052 URI |
| 024 | 7 | a https://doi.org/10.1136/jnnp-2022-3289212 DOI |
| 024 | 7 | a https://lup.lub.lu.se/record/da561e48-25bd-4558-8ef0-f78863747ce52 URI |
| 040 | a (SwePub)gud (SwePub)lu | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Schiava, M.u University of Newcastle4 aut |
| 245 | 1 0 | a Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study |
| 264 | c 2022-07-27 | |
| 264 | 1 | b BMJ,c 2022 |
| 520 | a Background Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations. Methods Descriptive retrospective international study collecting clinical and genetic data of patients with mutations in the VCP gene. Results Two hundred and fifty-five patients (70.0% males) were included in the study. Mean age was 56.8 +/- 9.6 years and mean age of onset 45.6 +/- 9.3 years. Mean diagnostic delay was 7.7 +/- 6 years. Symmetric lower limb weakness was reported in 50% at onset progressing to generalised muscle weakness. Other common symptoms were ventilatory insufficiency 40.3%, PDB 28.2%, dysautonomia 21.4% and FTD 14.3%. Fifty-seven genetic variants were identified, 18 of these no previously reported. c.464G>A (p.Arg155His) was the most frequent variant, identified in the 28%. Full time wheelchair users accounted for 19.1% with a median time from disease onset to been wheelchair user of 8.5 years. Variant c.463C>T (p.Arg155Cys) showed an earlier onset (37.8 +/- 7.6 year) and a higher frequency of axial and upper limb weakness, scapular winging and cognitive impairment. Forced vital capacity (FVC) below 50% was as risk factor for being full-time wheelchair user, while FVC Conclusion This study expands the knowledge on the phenotypic presentation, natural history, genotype-phenotype correlations and risk factors for disease progression of VCP disease and is useful to improve the care provided to patient with this complex disease. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
| 653 | a muscle disease | |
| 653 | a genetics | |
| 653 | a myopathy | |
| 653 | a incl body myositis | |
| 653 | a frontotemporal | |
| 653 | a dementia | |
| 653 | a inclusion-body myopathy | |
| 653 | a paget-disease | |
| 653 | a muscular-dystrophy | |
| 653 | a vcp | |
| 653 | a mutation | |
| 653 | a multisystem proteinopathy | |
| 653 | a frontotemporal dementia | |
| 653 | a bone | |
| 653 | a variability | |
| 653 | a families | |
| 653 | a spectrum | |
| 653 | a Neurosciences & Neurology | |
| 653 | a Psychiatry | |
| 653 | a Surgery | |
| 700 | 1 | a Ikenaga, C.4 aut |
| 700 | 1 | a Villar-Quiles, R. N.4 aut |
| 700 | 1 | a Caballero-Avila, M.4 aut |
| 700 | 1 | a Topf, A.4 aut |
| 700 | 1 | a Nishino, I.4 aut |
| 700 | 1 | a Kimonis, V.4 aut |
| 700 | 1 | a Udd, B.4 aut |
| 700 | 1 | a Schoser, B.4 aut |
| 700 | 1 | a Zanoteli, E.4 aut |
| 700 | 1 | a Souza, P. V. S.4 aut |
| 700 | 1 | a Tasca, G.4 aut |
| 700 | 1 | a Lloyd, T.4 aut |
| 700 | 1 | a Lopez-de Munain, A.4 aut |
| 700 | 1 | a Paradas, C.4 aut |
| 700 | 1 | a Pegoraro, E.4 aut |
| 700 | 1 | a Nadaj-Pakleza, A.4 aut |
| 700 | 1 | a De Bleecker, J.4 aut |
| 700 | 1 | a Badrising, U.4 aut |
| 700 | 1 | a Alonso-Jimenez, A.4 aut |
| 700 | 1 | a Kostera-Pruszczyk, A.4 aut |
| 700 | 1 | a Miralles, F.4 aut |
| 700 | 1 | a Shin, J. H.4 aut |
| 700 | 1 | a Bevilacqua, J. A.4 aut |
| 700 | 1 | a Olive, M.4 aut |
| 700 | 1 | a Vorgerd, M.4 aut |
| 700 | 1 | a Kley, R.4 aut |
| 700 | 1 | a Brady, S.4 aut |
| 700 | 1 | a Williams, T.4 aut |
| 700 | 1 | a Dominguez-Gonzalez, C.4 aut |
| 700 | 1 | a Papadimas, G. K.4 aut |
| 700 | 1 | a Warman, J.4 aut |
| 700 | 1 | a Claeys, K. G.4 aut |
| 700 | 1 | a de Visser, M.4 aut |
| 700 | 1 | a Muelas, N.4 aut |
| 700 | 1 | a LaForet, P.4 aut |
| 700 | 1 | a Malfatti, E.4 aut |
| 700 | 1 | a Alfano, L. N.4 aut |
| 700 | 1 | a Nair, S. S.4 aut |
| 700 | 1 | a Manousakis, G.4 aut |
| 700 | 1 | a Kushlaf, H. A.4 aut |
| 700 | 1 | a Harms, M. B.4 aut |
| 700 | 1 | a Nance, C.4 aut |
| 700 | 1 | a Ramos-Fransi, A.4 aut |
| 700 | 1 | a Rodolico, C.4 aut |
| 700 | 1 | a Hewamadduma, C.4 aut |
| 700 | 1 | a Cetin, H.4 aut |
| 700 | 1 | a Garcia-Garcia, J.4 aut |
| 700 | 1 | a Pal, E.4 aut |
| 700 | 1 | a Farrugia, M. E.4 aut |
| 700 | 1 | a Lamont, P. J.4 aut |
| 700 | 1 | a Quinn, C.4 aut |
| 700 | 1 | a Nedkova-Hristova, V.4 aut |
| 700 | 1 | a Peric, S.4 aut |
| 700 | 1 | a Luo, S. S.4 aut |
| 700 | 1 | a Oldfors, Anders,d 1951u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine4 aut0 (Swepub:gu)xoland |
| 700 | 1 | a Taylor, K.4 aut |
| 700 | 1 | a Ralston, S.4 aut |
| 700 | 1 | a Stojkovic, T.4 aut |
| 700 | 1 | a Weihl, C.4 aut |
| 700 | 1 | a Diaz-Manera, J.u Hospital de Sant Pau,University of Newcastle4 aut |
| 700 | 1 | a V. C. P. Int Study Grp, V. C. P. Int Study Grp4 aut |
| 700 | 1 | a Rydelius, A.u Lund University,Lunds universitet,Diagnostisk radiologi, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neuroradiologi,Forskargrupper vid Lunds universitet,Diagnostic Radiology, (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Neuroradiology,Lund University Research Groups4 aut0 (Swepub:lu)neur-ary |
| 710 | 2 | a University of Newcastleb Institutionen för biomedicin, avdelningen för laboratoriemedicin4 org |
| 773 | 0 | t Journal of Neurology Neurosurgery and Psychiatryd : BMJg 93:10, s. 1099-1111q 93:10<1099-1111x 0022-3050x 1468-330X |
| 856 | 4 | u http://dx.doi.org/10.1136/jnnp-2022-328921y FULLTEXT |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/320205 |
| 856 | 4 8 | u https://doi.org/10.1136/jnnp-2022-328921 |
| 856 | 4 8 | u https://lup.lub.lu.se/record/da561e48-25bd-4558-8ef0-f78863747ce5 |
Hitta via bibliotek
- Journal of Neurology Neurosurgery and Psychiatry (Sök värdpublikationen i LIBRIS)
Till lärosätets databas
- 1 av 1
- Föregående post
- Nästa post
- Till träfflistan
Hitta mer i SwePub
- Av författaren/redakt...
- Schiava, M.
- Ikenaga, C.
- Villar-Quiles, R ...
- Caballero-Avila, ...
- Topf, A.
- Nishino, I.
- visa fler...
- Kimonis, V.
- Udd, B.
- Schoser, B.
- Zanoteli, E.
- Souza, P. V. S.
- Tasca, G.
- Lloyd, T.
- Lopez-de Munain, ...
- Paradas, C.
- Pegoraro, E.
- Nadaj-Pakleza, A ...
- De Bleecker, J.
- Badrising, U.
- Alonso-Jimenez, ...
- Kostera-Pruszczy ...
- Miralles, F.
- Shin, J. H.
- Bevilacqua, J. A ...
- Olive, M.
- Vorgerd, M.
- Kley, R.
- Brady, S.
- Williams, T.
- Dominguez-Gonzal ...
- Papadimas, G. K.
- Warman, J.
- Claeys, K. G.
- de Visser, M.
- Muelas, N.
- LaForet, P.
- Malfatti, E.
- Alfano, L. N.
- Nair, S. S.
- Manousakis, G.
- Kushlaf, H. A.
- Harms, M. B.
- Nance, C.
- Ramos-Fransi, A.
- Rodolico, C.
- Hewamadduma, C.
- Cetin, H.
- Garcia-Garcia, J ...
- Pal, E.
- Farrugia, M. E.
- Lamont, P. J.
- Quinn, C.
- Nedkova-Hristova ...
- Peric, S.
- Luo, S. S.
- Oldfors, Anders, ...
- Taylor, K.
- Ralston, S.
- Stojkovic, T.
- Weihl, C.
- Diaz-Manera, J.
- V. C. P. Int Stu ...
- Rydelius, A.
- visa färre...
- Om ämnet
-
- MEDICIN OCH HÄLSOVETENSKAP
- MEDICIN OCH HÄLS ...
- och Medicinska och f ...
- och Neurovetenskaper
-
- MEDICIN OCH HÄLSOVETENSKAP
- MEDICIN OCH HÄLS ...
- och Klinisk medicin
- och Neurologi
- Artiklar i publikationen
- Journal of Neuro ...
- Av lärosätet
- Göteborgs universitet
- Lunds universitet
Sök utanför SwePub
- Sök vidare i:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - Nationella bibliotekssystem
- LIBRIS.kb.se
