Results 201 to 210 of about 86,166 (315)

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Calculation of the pH Values of Aqueous Systems Containing Carbonic Acid and Significance for Natural Waters, Following (Near-)Exact and Approximated Solutions: The Importance of the Boundary Conditions. [PDF]

Molecules
Rosso A, Vione D.
europepmc   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Engineering half-metallicity in wurtzite Zn_1-2<i>x</i> Mn _<i>x</i> A _<i>x</i> S (A = Mo, Ni) for enhanced optoelectronic and thermoelectric performance: a DFT study. [PDF]

RSC Adv
Amghar W, Lamrani AF, Sadki K, El Mabchour FE, Maskar E, El Hat A, Otmani S, Laamara RA.   +7 more
europepmc   +1 more source

Mixing actions of groups with the Haagerup approximation property [PDF]

, 2009
Greg Hjorth
openalex   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source

Optimal Runge approximation for nonlocal wave equations and unique determination of polyhomogeneous nonlinearities. [PDF]

Calc Var Partial Differ Equ
Lin YH, Tyni T, Zimmermann P.
europepmc   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

A Century of General Lichtenecker Equation: Between Stringency and Empiricism, Accuracy and Approximability. [PDF]

Materials (Basel)
Goncharenko AV, Silkin VM.
europepmc   +1 more source

​Did a Non‐Medical Biosimilar Switching Policy Cause an Increase in Non‐Biologic/Biosimilar Health Care Resource Utilization or Cost in Patients With Inflammatory Arthritis?

Arthritis Care &Research, EarlyView.
Objective This study aimed to evaluate the impact of a series of policies that mandated switching patients with inflammatory arthritis (IA) from an originator biologic to a biosimilar in British Columbia, Canada, on health care resource use and cost.
HaoHung Dang, Sandra Blitz, Nick Bansback, Michael Law, Mark Harrison   +4 more
wiley   +1 more source