Published Data Registry

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Title ▴	Authors	Journal	Publication year	DOI PMID
Background calcium influx in arrhythmia: lead actor or extra?	Fakuade FE, Fauconnier J, Voigt N	Journal of Physiology-London	2022	10.1113/jp283032 35451079
Baseline levels of miR-223-3p correlate with the effectiveness of electroconvulsive therapy in patients with major depression	Kaurani L, Besse M, (...), Zilles-Wegner D	Translational Psychiatry	2023	10.1038/s41398-023-02582-4 37699900
Basic Science in Movement Disorders: Fueling the Engine of Translation into Clinical Practice	Outeiro TF, Kalia LV, (...), Svenningsson P	Movement Disorders	2024	10.1002/mds.29802 38576081
Bayesian MRI reconstruction with joint uncertainty estimation using diffusion models	Luo G, Blumenthal M, Heide M, Uecker M	Magnetic Resonance in Medicine	2023	10.1002/mrm.29624 36912453
Beyond Motor Deficits: Environmental Enrichment Mitigates Huntington’s Disease Effects in YAC128 Mice	Plácido E, Gomes Welter P, (...), Brocardo PS	International Journal of Molecular Sciences	2023	10.3390/ijms241612607 37628801
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders	Kaiyrzhanov R, Rad A, (...), Maroofian R	Brain	2023	10.1093/brain/awad380 37951597
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis	Ganapathi M, Argyriou L, (...), Wollnik B	Human Genetics	2020	10.1007/s00439-020-02188-6 32514796
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications	Chelban V, Aksnes H, (...), Houlden H	Nature Communications	2024	10.1038/s41467-024-46354-0 38480682
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies	Iqbal M, Maroofian R, (...), Yigit G	Genetics in Medicine	2021	10.1038/s41436-021-01260-4 34244665
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function	Lin S, Vona B, (...), Varshney GK	Human Mutation	2022	10.1002/humu.24435 35815345