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Iscience|October 23, 2023
High RIPK3 expression is associated with a higher risk of early kidney transplant failureAdam Wahida, Christoph Schmaderer, Maike Büttner-Herold, et al.
Cell Reports|July 27, 2012
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsionsHsien-Yang Lee, Yong Huang, Nadine Bruneau, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 14, 2017
Which ante mortem clinical features predict progressive supranuclear palsy pathology?Gesine Respondek, Carolin Kurz, Thomas Arzberger, et al.
Cell|February 24, 2018
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome AssemblyTatsiana Aneichyk, William T Hendriks, Rachita Yadav, et al.
American Journal of Human Genetics|January 25, 2011
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, et al.
Nature Genetics|June 21, 2011
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsyGünter U Höglinger, Nadine M Melhem, Dennis W Dickson, et al.
Cell|July 3, 2007
A mammalian microRNA expression atlas based on small RNA library sequencingPablo Landgraf, Mirabela Rusu, Robert Sheridan, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 4, 2017
Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteriaGünter U Höglinger, Gesine Respondek, Maria Stamelou, et al.
Nature Genetics|April 8, 2015
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionNaiara Akizu, Vincent Cantagrel, Maha S Zaki, et al.
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