Published Data Registry

show all
TitleAuthorsJournalPublication year
DOI
PMID
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.(Open Access) Monfrini E, Zech M, Steel D, Kurian MA, Winkelmann J, Di Fonzo ABrain : a journal of neurology2021
The porphyrin TMPyP4 inhibits elongation during the noncanonical translation of the FTLD/ALS-associated GGGGCC repeat in the C9orf72 gene.(Open Access) Mori K, Gotoh S, (...), Ikeda MThe Journal of biological chemistry2021
Multiple sclerosis and subclinical neuropathology in healthy individuals with familial risk: A scoping review of MRI studies.(Open Access) Mortazavi M, Hizarci Ö, (...), Ertl-Wagner BNeuroImage. Clinical2021
Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies.(Open Access) Moster ML, Sergott RC, (...), Sahel JAJournal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society2021
A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia.Musacchio T, Zech M, Reich MM, Winkelmann J, Volkmann JAnnals of neurology2021
BACE inhibitor treatment of mice induces hyperactivity in a Seizure-related gene 6 family dependent manner without altering learning and memory.(Open Access) Nash A, Gijsen HJM, (...), Munro KMScientific reports2021
MicroRNAs and Long Non-Coding RNAs as Potential Candidates to Target Specific Motifs of SARS-CoV-2.(Open Access) Natarelli L, Parca L, Mazza T, Weber C, Virgili F, Fratantonio DNon-coding RNA2021
Trisomy X syndrome with dystonia and a pathogenic SATB1 variant.Necpál J, Zech M, Winkelmann J, Jech RNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2021
KL-VS heterozygosity is associated with lower amyloid-dependent tau accumulation and memory impairment in Alzheimer's disease.(Open Access) Neitzel J, Franzmeier N, (...), Ewers MNature communications2021
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.(Open Access) Neuser S, Brechmann B, (...), Ebrahimi-Fakhari DHuman mutation2021