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Plos One|May 31, 2014
Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndromeEva C Schulte, Katharina Schramm, Claudia Schurmann, et al.
Nature Genetics|July 20, 2007
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regionsJuliane Winkelmann, Barbara Schormair, Peter Lichtner, et al.
Neurology|September 26, 2025
Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation SequencingMartin Krenn, Matias Wagner, Helena Schuller, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 9, 2020
Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's DiseaseFranziska Hopfner, Stefanie H Mueller, Silke Szymczak, et al.
European Journal of Human Genetics : EJHG|January 22, 2015
Rare variants in β-Amyloid precursor protein (APP) and Parkinson's diseaseEva C Schulte, Akio Fukumori, Brit Mollenhauer, et al.
Human Molecular Genetics|December 15, 2010
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levelsKonrad Oexle, Janina S Ried, Andrew A Hicks, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 30, 2006
Family-based association study of the restless legs syndrome loci 2 and 3 in a European populationDavid Kemlink, Olli Polo, Pasquale Montagna, et al.
Annals of Neurology|January 31, 2025
Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia SyndromesAhmet Kaymak, Fabiana Colucci, Mahboubeh Ahmadipour, et al.
Acta Neuropathologica|April 15, 2017
Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron lossMartin H Schludi, Lore Becker, Lillian Garrett, et al.
Clinical Genetics|March 20, 2026
Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome)Carolina I Galaz-Montoya, Sara A Lewis, Maureen K Galindo, et al.
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