SwePub
Sök i SwePub databas

  Extended search

Träfflista för sökning "(WFRF:(van Damme Philip)) srt2:(2015-2019)"

Search: (WFRF:(van Damme Philip)) > (2015-2019)

  • Result 11-12 of 12
Sort/group result
   
EnumerationReferenceCoverFind
11.
  • Naumann, Marcel, et al. (author)
  • Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis
  • 2019
  • In: Annals of Clinical and Translational Neurology. - : John Wiley & Sons. - 2328-9503. ; 6:12, s. 2384-2394
  • Journal article (peer-reviewed)abstract
    • Objective: Mutations in Fused in Sarcoma (FUS or TLS) are the fourth most prevalent in Western European familial amyotrophic lateral sclerosis (ALS) populations and have been associated with causing both early and very late disease onset. FUS aggregation, DNA repair deficiency, and genomic instability are contributors to the pathophysiology of FUS-ALS, but their clinical significance per se and their influence on the clinical variability have yet to be sufficiently investigated. The aim of this study was to analyze genotype-phenotype correlations and malignancy rates in a newly compiled FUS-ALS cohort.Methods: We cross-sectionally reviewed FUS-ALS patient histories in a multicenter cohort with 36 novel cases and did a meta-analysis of published FUS-ALS cases reporting the largest genotype-phenotype correlation of FUS-ALS.Results: The age of onset (median 39 years, range 11-80) was positively correlated with the disease duration. C-terminal domain mutations were found in 90%. Among all, P525L and truncating/ frameshift mutations most frequently caused juvenile onset, rapid disease progression, and atypical ALS often associated with negative family history while the R521 mutation site was associated with late disease onset and pure spinal phenotype. Malignancies were found in one of 40 patients.Interpretation: We report the largest genotype-phenotype correlation of FUS-ALS, which enables a careful prediction of the clinical course in newly diagnosed patients. In this cohort, FUS-ALS patients did not have an increased risk for malignant diseases.
  •  
12.
  • Oeckl, Patrick, et al. (author)
  • Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS
  • 2016
  • In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. - : Informa UK Limited. - 2167-8421 .- 2167-9223. ; 17:5-6, s. 404-413
  • Journal article (peer-reviewed)abstract
    • OBJECTIVE: Neurofilaments are leading neurochemical biomarkers for amyotrophic lateral sclerosis (ALS). Here, we investigated the effect of preanalytical factors on neurofilament concentrations in cerebrospinal fluid (CSF) in a reverse round-robin with 15 centers across Europe/U.S. METHODS: Samples from ALS and control patients (5/5 each center, n=150) were analyzed for phosphorylated neurofilament heavy chain (pNfH) and neurofilament light chain (NfL) at two laboratories. RESULTS: CSF pNfH was increased (p<0.05) in ALS in 10 out of 15 centers and NfL in 5 out of 12 centers. The coefficient of variation (CV%) of pNfH measurements between laboratories was 18.7 +/- 19.1%. We calculated a diagnostic cut-off of >568.5pg/mL for pNfH (sensitivity 78.7%, specificity 93.3%) and >1,431pg/mL for NfL (sensitivity 79.0%, specificity 86.4%). CONCLUSION: Values in ALS patients are already comparable between most centers, supporting eventual implementation into clinical routine. However, continuous quality control programs will be necessary for inclusion in the diagnostic work-up.
  •  
Skapa referenser, mejla, bekava och länka
  • Result 11-12 of 12
Type of publication
journal article (12)
Type of content
peer-reviewed (11)
other academic/artistic (1)
Author/Editor
van Damme, Philip (10)
Al-Chalabi, Ammar (8)
Robberecht, Wim (8)
van den Berg, Leonar ... (7)
Andersen, Peter M. (6)
Hardiman, Orla (6)
show more...
Silani, Vincenzo (6)
Veldink, Jan H. (6)
van Rheenen, Wouter (6)
Corcia, Philippe (5)
de Carvalho, Mamede (5)
Shaw, Christopher E. (5)
Shaw, Pamela J. (5)
Morrison, Karen E. (5)
Landers, John E. (5)
Glass, Jonathan D. (5)
Ludolph, Albert C. (5)
van Es, Michael A (5)
Shatunov, Aleksey (4)
Fogh, Isabella (4)
Ticozzi, Nicola (4)
Weber, Markus (4)
Chio, Adriano (4)
Salachas, Francois (4)
Weishaupt, Jochen H. (4)
McLaughlin, Russell ... (4)
Gellera, Cinzia (4)
Soraru, Gianni (4)
Sproviero, William (4)
Smith, Bradley N. (4)
Kenna, Kevin P. (4)
Mora, Jesus S. (4)
D'Alfonso, Sandra (3)
Andersen, Peter M., ... (3)
Ratti, Antonia (3)
Grosskreutz, Julian (3)
Petri, Susanne (3)
Hardy, John (3)
Pulit, Sara L. (3)
Malaspina, Andrea (3)
Van Den Bosch, Ludo (3)
Meininger, Vincent (3)
Cereda, Cristina (3)
Fratta, Pietro (3)
Comi, Giacomo P (3)
Tiloca, Cinzia (3)
Mazzini, Letizia (3)
Van Eijk, Kristel R. (3)
van Vugt, Joke J.F.A ... (3)
Basak, A. Nazli (3)
show less...
University
Umeå University (11)
Karolinska Institutet (3)
Linköping University (2)
Lund University (2)
Royal Institute of Technology (1)
Uppsala University (1)
show more...
Stockholm University (1)
Swedish University of Agricultural Sciences (1)
show less...
Language
English (12)
Research subject (UKÄ/SCB)
Medical and Health Sciences (12)
Natural sciences (2)

Year

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.

 
pil uppåt Close

Copy and save the link in order to return to this view