Search details
1.
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Nature
; 603(7899): 131-137, 2022 03.
Article
in English
| MEDLINE | ID: mdl-35197628
2.
Dynamics of the Herpes simplex virus DNA polymerase holoenzyme during DNA synthesis and proof-reading revealed by Cryo-EM.
Nucleic Acids Res
; 2024 May 29.
Article
in English
| MEDLINE | ID: mdl-38806233
3.
IntroVerse: a comprehensive database of introns across human tissues.
Nucleic Acids Res
; 51(D1): D167-D178, 2023 01 06.
Article
in English
| MEDLINE | ID: mdl-36399497
4.
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Mov Disord
; 39(3): 486-497, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38197134
5.
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Brain
; 146(7): 2869-2884, 2023 07 03.
Article
in English
| MEDLINE | ID: mdl-36624280
6.
Solvent-Dependent Structural Dynamics in the Ultrafast Photodissociation Reaction of Triiodide Observed with Time-Resolved X-ray Solution Scattering.
J Am Chem Soc
; 145(29): 15754-15765, 2023 Jul 26.
Article
in English
| MEDLINE | ID: mdl-37163700
7.
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.
Neurobiol Dis
; 180: 106082, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36925053
8.
ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2.
Bioinformatics
; 38(15): 3844-3846, 2022 08 02.
Article
in English
| MEDLINE | ID: mdl-35751589
9.
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.
Ann Neurol
; 90(1): 76-88, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33938021
10.
Polygenic risk of Alzheimer's disease in the Faroe Islands.
Eur J Neurol
; 29(8): 2192-2200, 2022 Aug.
Article
in English
| MEDLINE | ID: mdl-35384166
11.
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Eur J Neurol
; 28(4): 1344-1355, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33220101
12.
Modulation of Structural Heterogeneity Controls Phytochrome Photoswitching.
Biophys J
; 118(2): 415-421, 2020 01 21.
Article
in English
| MEDLINE | ID: mdl-31839260
13.
Observing the Structural Evolution in the Photodissociation of Diiodomethane with Femtosecond Solution X-Ray Scattering.
Phys Rev Lett
; 125(22): 226001, 2020 Nov 27.
Article
in English
| MEDLINE | ID: mdl-33315438
14.
Transient IR spectroscopy identifies key interactions and unravels new intermediates in the photocycle of a bacterial phytochrome.
Phys Chem Chem Phys
; 22(17): 9195-9203, 2020 May 07.
Article
in English
| MEDLINE | ID: mdl-32149285
15.
Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.
Muscle Nerve
; 60(3): 311-314, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31241196
16.
Potential pitfalls of the early-time dynamics in two-dimensional electronic spectroscopy.
J Chem Phys
; 151(2): 024201, 2019 Jul 14.
Article
in English
| MEDLINE | ID: mdl-31301711
17.
Chromophore-Protein Interplay during the Phytochrome Photocycle Revealed by Step-Scan FTIR Spectroscopy.
J Am Chem Soc
; 140(39): 12396-12404, 2018 10 03.
Article
in English
| MEDLINE | ID: mdl-30183281
18.
Efficient Isotope Editing of Proteins for Site-Directed Vibrational Spectroscopy.
J Am Chem Soc
; 138(7): 2312-8, 2016 Feb 24.
Article
in English
| MEDLINE | ID: mdl-26796542
19.
DNAJC13 mutations in Parkinson disease.
Hum Mol Genet
; 23(7): 1794-801, 2014 Apr 01.
Article
in English
| MEDLINE | ID: mdl-24218364
20.
DNAJC13 genetic variants in parkinsonism.
Mov Disord
; 30(2): 273-8, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25393719