Results 261 to 270 of about 5,280,661 (313)

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Traumatic Microhemorrhages Are Not Synonymous With Axonal Injury

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diffuse axonal injury (DAI) is caused by acceleration‐deceleration forces during trauma that shear white matter tracts. Susceptibility‐weighted MRI (SWI) identifies microbleeds that are considered the radiologic hallmark of DAI and are used in clinical prognostication.
Karinn Sytsma, Rhonda Mittenzwei, Heather Maioli, Amanda Kirkland, C. Dirk Keene, Ramon Diaz‐Arrastia, Christine Mac Donald, Chiara Maffei, Brian L. Edlow, Amber L. Nolan   +9 more
wiley   +1 more source

UK recommendations for chimerism testing and monitoring following allogeneic haematopoietic stem cell transplantation (HSCT): Best practice consensus guidelines from the British Society for Blood and Marrow Transplant and Cellular Therapies (BSBMTCT), NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group, UK Cancer Genetics Group (UKCGG) and the UK National External Quality Assessment Service for Leucocyte Immunophenotyping (UK NEQAS LI). [PDF]

Br J Haematol
Clark A, Clouston H, Rao K, Folarin N, De la Fuente J, Hamblin A, Olavarria E, Richardson D, Talley P, Potter V, Loke J, McVeigh T, Snowden J.   +12 more
europepmc   +1 more source

Quality of service ensuring in urban solid waste management

, 2004
Nikolaos V. Karadimas, V. Loumos, Ourania D. Mavrantza   +2 more
openalex   +1 more source

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

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

Fintech Service Quality and Investment Literacy: Impacts on Banking Sustainability via Continuance Intention in a Regional Bank’s Mobile App

Adinda Fazreen, Sita Deliyana Firmialy
openalex   +2 more sources

​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