FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier+20 more
wiley +1 more source
Time-Dependent Particle-Breaking Hartree-Fock Model for Electronically Open Molecules. [PDF]
Pedersen J+4 more
europepmc +1 more source
Ab Initio Lattice Quantum Chromodynamics Calculations of Parton Physics in the Proton: Large-Momentum Effective Theory versus Short-Distance Expansion. [PDF]
Ji X.
europepmc +1 more source
A meta-analytic study of partner phubbing and its antecedents and consequences. [PDF]
Ni N+4 more
europepmc +1 more source
An assessment of the effects of simulation training on management of postpartum hemorrhage: short- and long-term impact on knowledge retention, skills and teamwork in the Democratic Republic of Congo. [PDF]
Cikwanine JPB+6 more
europepmc +1 more source
Machine learning for improved density functional theory thermodynamics. [PDF]
Simak SI+2 more
europepmc +1 more source
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