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Plos Pathogens|December 17, 2011
SAMHD1-deficient CD14+ cells from individuals with Aicardi-Goutières syndrome are highly susceptible to HIV-1 infectionAndré Berger, Andreas F R Sommer, Jenny Zwarg, et al.
Frontiers in Cardiovascular Medicine|February 5, 2019
Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNetMagnus Bäck, Tamas Aranyi, M Leonor Cancela, et al.
Muscle & Nerve|November 22, 2019
Diagnostic utility of small fiber analysis in skin biopsies from children with chronic painJonas Görlach, Daniel Amsel, Heike Kölbel, et al.
Circulation. Cardiovascular Genetics|December 18, 2009
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancyFrank Rutsch, Petra Böyer, Yvonne Nitschke, et al.
American Journal of Medical Genetics. Part A|February 25, 2020
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndromeSandy Ayoub, Neeti Ghali, Chloe Angwin, et al.
Nature Genetics|January 13, 2009
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolismFrank Rutsch, Susann Gailus, Isabelle R Miousse, et al.
Orphanet Journal of Rare Diseases|March 10, 2017
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trialAnia C Muntau, Alberto Burlina, François Eyskens, et al.
Nature Medicine|September 14, 2012
SAMHD1 restricts HIV-1 infection in resting CD4(+) T cellsHanna-Mari Baldauf, Xiaoyu Pan, Elina Erikson, et al.
American Journal of Human Genetics|April 17, 2007
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni, et al.
Clinical Genetics|March 13, 2019
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnosesAndrea Angius, Paolo Uva, Manuela Oppo, et al.
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