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Frontiers in Immunology|July 15, 2025
Single-cell RNA-sequencing highlights a curtailed NK cell function in convalescent COVID-19 pregnant womenMadhuri S Salker, Nor Haslinda Abd Aziz, Natalia Carman Prodan, et al.
BMC Cancer|August 10, 2019
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive womenIlnaz Sepahi, Ulrike Faust, Marc Sturm, et al.
Neurobiology of Disease|February 29, 2024
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph diseaseMafalda Raposo, Jeannette Hübener-Schmid, Rebecca Tagett, et al.
BMC Cancer|March 9, 2018
Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer historyChristoph Engel, Kerstin Rhiem, Eric Hahnen, et al.
Brain : a Journal of Neurology|October 21, 2017
Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's diseaseJulia C Fitzgerald, Alexander Zimprich, Daniel A Carvajal Berrio, et al.
Stroke|January 12, 2013
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients studyArndt Rolfs, Franz Fazekas, Ulrike Grittner, et al.
European Journal of Human Genetics : EJHG|July 28, 2023
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patientsChristopher Schroeder, Ulrike Faust, Luisa Krauße, et al.
The Lancet. Neurology|August 22, 2020
Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort studyHeike Jacobi, Sophie Tezenas du Montcel, Sandro Romanzetti, et al.
Neuropathology and Applied Neurobiology|February 17, 2023
A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxiaMagda M Santana, Laetitia S Gaspar, Maria M Pinto, et al.
Nature Genetics|April 29, 2024
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagyKarla P Figueroa, Caspar Gross, Elena Buena-Atienza, et al.
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