Published Data Registry

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TitleAuthorsJournalPublication year
DOI
PMID
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.(Open Access) Skorvanek M, Rektorova I, (...), Jech RParkinsonism & related disorders2022
Analysis of Mitochondria by Single-Organelle Resolution.Harbauer AB, Schneider A, Wohlleber DAnnual review of analytical chemistry (Palo Alto, Calif.)2022
A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.(Open Access) Werning M, Dobretzberger V, (...), Salzer UBiomolecules2022
Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models.(Open Access) Williams LA, Gerber DJ, (...), Dempsey GTMolecular therapy. Nucleic acids2022
IE-Vnet: Deep Learning-Based Segmentation of the Inner Ear's Total Fluid Space.(Open Access) Ahmadi SA, Frei J, Vivar G, Dieterich M, Kirsch VFrontiers in neurology2022
Blocking P2X7 by intracerebroventricular injection of P2X7-specific nanobodies reduces stroke lesions.(Open Access) Wilmes M, Pinto Espinoza C, (...), Magnus TJournal of neuroinflammation2022
Leveraging large multi-center cohorts of Alzheimer disease endophenotypes to understand the role of Klotho heterozygosity on disease risk.(Open Access) Ali M, Sung YJ, (...), Cruchaga CPloS one2022
Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.(Open Access) Wilson KM, Katona E, (...), Isaacs AMJournal of neurology, neurosurgery, and psychiatry2022
A deep learning-based toolbox for Automated Limb Motion Analysis (ALMA) in murine models of neurological disorders.(Open Access) Aljovic A, Zhao S, (...), Bareyre FMCommunications biology2022
Fast versus slow disease progression in amyotrophic lateral sclerosis-clinical and genetic factors at the edges of the survival spectrum.Witzel S, Wagner M, (...), Ludolph ACNeurobiology of aging2022