SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
A Robust Finite Element Method for Linearized Magnetohydrodynamics on General Domains. [PDF]
J Sci Computda Veiga LB, Lovadina C, Trezzi M.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao +6 more
wiley +1 more source
How to parameterise an equivalent-circuit empirical battery model from time-domain data. [PDF]
MethodsXBlyth M, Gupta A, Hales A.
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Direct numerical simulation of three-dimensional Kolmogorov flow for turbulence model development. [PDF]
Sci DataAndrea Kovács K, Balogh M, Kristóf G.
europepmc +1 more source
Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer +11 more
wiley +1 more source
Construction of Arbitrary-Order Internal Coordinate Transformations to Improve Studies of Large-Amplitude Motions. [PDF]
J Phys Chem ABoyer MA, Tabor DP.
europepmc +1 more source
Polynomial Interpolation and Numerical Integration
, 2019 The current thesis deals with two of the most old and important subjects in the field of Numerical Analysis and Approximation Theory, Polynomial Interpolation and Numerical Integration. The first part of our work tries to deal with questions regarding the approximation of a continuous function by an nth degree polynomial, which agrees with f at n + 1 ...
openaire +1 more source
Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source