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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

Neurobiology of aging, 2013-06, Vol.34 (6), p.1708.e1-1708.e6

2013

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Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients

PloS one, 2016-02, Vol.11 (2), p.e0150133

2016

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Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS

Human molecular genetics, 2012-08, Vol.21 (16), p.3568-3574

2012

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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

PloS one, 2014-11, Vol.9 (11), p.e112250-e112250

2014

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Su(z)12, a novel Drosophila Polycomb group gene that is conserved in vertebrates and plants

Development (Cambridge), 2001-09, Vol.128 (17), p.3371-3379

2001

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A 1-Megadalton ESC/E(Z) Complex from Drosophila That Contains Polycomblike and RPD3

Molecular and Cellular Biology, 2003-05, Vol.23 (9), p.3352-3362

2003

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Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis

Human molecular genetics, 2013-01, Vol.22 (1), p.51-60

2013

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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

Human molecular genetics, 2015-06, Vol.24 (11), p.3133-3142

2015

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PGC-1 is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis

Human molecular genetics, 2013-09, Vol.22 (17), p.3477-3484

2013

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Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany

European journal of neurology, 2013-03, Vol.20 (3), p.540-546

2013

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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

Journal of medical genetics, 2014-06, Vol.51 (6), p.419-424

2014

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PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis

Human molecular genetics, 2013-09, Vol.22 (17), p.3477-3484

2013

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Sequence analyses of fimbriae subunit FimA proteins on Actinomyces naeslundii genospecies 1 and 2 and Actinomyces odontolyticus with variant carbohydrate binding specificities

BMC microbiology, 2006-05, Vol.6 (1), p.43-43, Article 43

2006

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A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany

Neurobiology of aging, 2013-05, Vol.34 (5), p.1516.e9-1516.e15

2013

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Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis

Journal of neurology, neurosurgery and psychiatry, 2010-05, Vol.81 (5), p.562-566

2010

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Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS

Human molecular genetics, 2012-08, Vol.21 (16), p.3568-3574

2012

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A 50bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in Sweden

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2016-07, Vol.17 (5-6), p.452

2016

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Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2017-07, Vol.18 (5-6), p.457-463

2017

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Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

Nature genetics, 2008-01, Vol.40 (1), p.29-31

2008

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A 50 bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in Sweden

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2016-08, Vol.17 (5-6), p.452-457

2016

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ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival

Journal of neurology, neurosurgery and psychiatry, 2012-03, Vol.83 (3), p.351-353

2012

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A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis

Human molecular genetics, 2010-11, Vol.19 (21), p.4201-4206

2010

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Mutations in VAPB are relatively frequent in the Swedish population, but not associated with ALS

EUROPEAN JOURNAL OF NEUROLOGY, 2012, Vol.19, p.82

2012

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ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts

Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients

Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS

The Drosophila midkine/pleiotrophin homologues Miple1 and Miple2 affect adult lifespan but are dispensable for alk signaling during embryonic gut formation

Su(z)12, a novel Drosophila Polycomb group gene that is conserved in vertebrates and plants

A 1-Megadalton ESC/E(Z) Complex from Drosophila That Contains Polycomblike and RPD3

Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD

PGC-1 is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis

Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis

Sequence analyses of fimbriae subunit FimA proteins on Actinomyces naeslundii genospecies 1 and 2 and Actinomyces odontolyticus with variant carbohydrate binding specificities

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany

Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis

Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS

A 50bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in Sweden

Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

A 50 bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in Sweden

ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival

A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis

Mutations in VAPB are relatively frequent in the Swedish population, but not associated with ALS

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

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