output
20142026
most citedTMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

71 citations

researchers with a paper here
collaborating institutions

5 papers

cs.CV2026

Deep Learning Pose Estimation for Multi-Label Recognition of Combined Hyperkinetic Movement Disorders

Laura Cif, Diane Demailly, Gabriella A. Horvàth +15

Hyperkinetic movement disorders (HMDs) such as dystonia, tremor, chorea, myoclonus, and tics are disabling motor manifestations across childhood and adulthood. Their fluctuating, i…

eess.SP2026

Absorption mode broadband 2D MS for proteomics and metabolomics

Maria A van Agthoven, Marek Polák, Jan Fiala +9

Two-dimensional mass spectrometry (2D MS) is a method for tandem mass spectrometry that enables the correlation between precursor and fragment ions without the need for ion isolati…

q-bio.QM2025

Impact of Force Field Polarization on Correlated Motions of Proteins

Ana Milinski, Annick Dejaegere, Roland Stote

Correlated motions of proteins underpin many physiological mechanisms, such as substrate binding, signal transduction, enzymatic activity and allostery. These motions arise from lo…

q-bio.GN2020★ 71 cited

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

Jérôme Delplanque, David Devos, Vincent Huin +18

Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we r…

astro-ph.IM2014

Building an Archive with Saada

Laurent Michel, Christian Motch, Hoan Ngoc Nguyen +1

Saada transforms a set of heterogeneous FITS files or VOTables of various categories (images, tables, spectra ...) in a database without writing code. Databases created with Saada…