Publications by authors named "Anna Birve"

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A 50 bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in Sweden.
Caroline Ingre, Anna Wuolikainen, Stefan L Marklund, Anna Birve, Rayomand Press

Amyotroph Lateral Scler Frontotemporal Degener· October 2017

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Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives.
Isil Keskin, Anna Birve, Mariusz Berdynski, Karin Hjertkvist, Reza Rofougaran

Amyotroph Lateral Scler Frontotemporal Degener· August 2017

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Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients.
Isil Keskin, Elin Forsgren, Dale J Lange, Markus Weber, Anna Birve

PLoS One· July 2016

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The Drosophila midkine/pleiotrophin homologues Miple1 and Miple2 affect adult lifespan but are dispensable for alk signaling during embryonic gut formation.
Fredrik Hugosson, Camilla Sjögren, Anna Birve, Ludmilla Hedlund, Therese Eriksson

PLoS One· December 2015

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Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD.
Angelica Nordin, Chizuru Akimoto, Anna Wuolikainen, Helena Alstermark, Pär Jonsson, Anna Birve

Hum Mol Genet· June 2015

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Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study.
Perry T C van Doormaal, Nicola Ticozzi, Cinzia Gellera, Antonia Ratti, Franco Taroni, Anna Birve

Neurobiol Aging· October 2014

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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
Chizuru Akimoto, Alexander E Volk, Marka van Blitterswijk, Marleen Van den Broeck, Claire S Leblond, Anna Birve

J Med Genet· June 2014

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No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland.
Caroline Ingre, Susana Pinto, Anna Birve, Rayomand Press, Olof Danielsson

Amyotroph Lateral Scler Frontotemporal Degener· December 2013

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PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis.
Judith Eschbach, Birgit Schwalenstöcker, Selma M Soyal, Hanna Bayer, Diana Wiesner, Anna Birve

Hum Mol Genet· September 2013

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A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.
Caroline Ingre, John E Landers, Naji Rizik, Alexander E Volk, Chizuru Akimoto, Anna Birve

Neurobiol Aging· June 2013

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A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany.
Jochen H Weishaupt, Stefan Waibel, Anna Birve, Alexander E Volk, Benjamin Mayer

Neurobiol Aging· May 2013

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No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden.
Chizuru Akimoto, Lars Forsgren, Jan Linder, Anna Birve, Irene Backlund

Amyotroph Lateral Scler Frontotemporal Degener· January 2013

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Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis.
Karin S Graffmo, Karin Forsberg, Johan Bergh, Anna Birve, Per Zetterström

Hum Mol Genet· January 2013

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Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.
Matthis Synofzik, Dario Ronchi, Isil Keskin, Ayse N Basak, Christian Wilhelm, Anna Birve

Hum Mol Genet· August 2012

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Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis.
Elke Bogaert, An Goris, Philip Van Damme, Veerle Geelen, Robin Lemmens, Anna Birve

Neurobiol Aging· February 2012

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Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.
Michael A van Es, Helenius J Schelhaas, Paul W J van Vught, Nicola Ticozzi, Peter M Andersen, Anna Birve

Ann Neurol· December 2011

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A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling.
Terrell Brotherton, Meraida Polak, Crystal Kelly, Anna Birve, Peter Andersen

Amyotroph Lateral Scler· May 2011

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A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis.
Anna Birve, Christoph Neuwirth, Markus Weber, Stefan L Marklund, Ann-Charloth Nilsson

Hum Mol Genet· November 2010

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A large genome scan for rare CNVs in amyotrophic lateral sclerosis.
Hylke M Blauw, Ammar Al-Chalabi, Peter M Andersen, Paul W J van Vught, Frank P Diekstra, Anna Birve

Hum Mol Genet· October 2010

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Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis.
Michael A van Es, Caroline Dahlberg, Anna Birve, Jan Herman Veldink, Leonard H van den Berg

J Neurol Neurosurg Psychiatry· May 2010

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Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis.
Michael A Van Es, Paul W J Van Vught, Jan H Veldink, Peter M Andersen, Anna Birve

Amyotroph Lateral Scler· February 2010

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Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
Michael A van Es, Jan H Veldink, Christiaan G J Saris, Hylke M Blauw, Paul W J van Vught, Anna Birve

Nat Genet· October 2009

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In vivo analysis of Drosophila SU(Z)12 function.
Sa Chen, Anna Birve, Asa Rasmuson-Lestander

Mol Genet Genomics· February 2008

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Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
Michael A van Es, Paul W J van Vught, Hylke M Blauw, Lude Franke, Christiaan G J Saris, Anna Birve

Nat Genet· January 2008

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ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.
Michael A van Es, Paul W Van Vught, Hylke M Blauw, Lude Franke, Christiaan G Saris, Anna Birve

Lancet Neurol· October 2007

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