Results 311 to 320 of about 1,429,832 (378)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki, Masanori Kurihara, Kenji Ishibashi, Aya Midori Tokumaru, Kenji Ishii, Atsushi Iwata   +5 more
wiley   +1 more source

Clinical Phenotyping of Long COVID Patients Evaluated in a Specialized Neuro‐COVID Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To report Long COVID characteristics and longitudinal courses of patients evaluated between 4/14/21–4/14/22 at the University of Pennsylvania Neurological COVID Clinic (PNCC), including clinical symptoms, neurological examination findings, and neurocognitive screening tests from a standardized PNCC neurological evaluation approach ...
Luana D. Yamashita, Neel Desai, Abigail R. Manning, Caitlin Pileggi, Sara Manning Peskin, Danielle K. Sandsmark, Dennis L. Kolson, Matthew K. Schindler   +7 more
wiley   +1 more source

Consequences of testing liver function.

Clinical Chemistry, 1978
openaire   +3 more sources

Prognostic role of liver function tests in pediatric dengue illness

International Journal of Infectious Diseases, 2020
A. Bhriguvanshi, D. Prasad
doaj  

EEG Spectral Exponents and Visual Chirp Responses Mirror Anti‐Seizure Medication Load in Refractory Focal Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Quantitative markers of cortical excitability may help identify responders to anti‐seizure medications (ASMs). We studied the relationship between ASM load and two electroencephalography (EEG) markers of cortical excitability in people with refractory epilepsy. Methods We included individuals with refractory focal epilepsy undergoing
Silvano R. Gefferie, Arthur R. van Nieuw Amerongen, Gerhard H. Visser, Maeike Zijlmans, Else A. Tolner, Mark van de Ruit, Arn M. J. M. van den Maagdenberg, Roland D. Thijs   +7 more
wiley   +1 more source

Liver Function Tests in Jaundice

International Journal of Clinical Practice, 1957
openaire   +2 more sources

Long‐Term Survival, Burden of Disease, and Patient‐Centered Outcomes in Maximally Treated Intracerebral Hemorrhage

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Increasing evidence shows that patients with intracerebral hemorrhage (ICH) can achieve better‐than‐expected outcomes with aggressive therapy. However, real‐world long‐term data, patient‐centered outcomes, and societal measures after maximal ICH treatment are lacking.
Anne Mrochen, Maximilian I. Sprügel, Alexander Sekita, Stefanie Balk, David Haupenthal, Stefan T. Gerner, Hannes Lücking, Arnd Doerfler, Kosmas Macha, Stefan Schwab, Joji B. Kuramatsu, Jochen A. Sembill   +11 more
wiley   +1 more source

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish clinical trial readiness in the context of anticipated therapeutic trials.
Stephanie M. Hunn, Lindsay N. Alfano, Aileen Jones, Amanda Butler, Linda P. Lowes, Megan A. Iammarino, Natalie F. Reash, Lindsay Pietruszewski, Sandhya Sasidharan, Melissa Currence, Jeffrey M. Statland, Talia Strahler, Robert Will, Matthew Wicklund, Stacy Dixon, Renee Augsburger, Tahseen Mozaffar, Katie M. Laubscher, Shelley R. H. Mockler, Katherine D. Mathews, Nikia Stinson, Doris G. Leung, Molly M. Stark, Rebecca A. Horton, Peter B. Kang, Meredith K. James, Amanda Clause, Conrad C. Weihl, Nicholas E. Johnson, GRASP‐LGMD Consortium   +29 more
wiley   +1 more source

ADAPT NXT: Fixed Cycles or Every‐Other‐Week IV Efgartigimod in Generalized Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This phase 3b, open‐label, randomized ADAPT NXT study investigated the efficacy, safety, and tolerability of efgartigimod administered in either a fixed cycles dosing regimen (3 cycles of 4 once‐weekly infusions, with 4 weeks between cycles) or a cycle followed by every‐other‐week (Q2W) dosing.
Ali A. Habib, Kristl G. Claeys, Vera Bril, Yessar Hussain, Kelly Gwathmey, Gregory Sahagian, Elena Cortés‐Vicente, Edward Brauer, Deborah Gelinas, Anne Sumbul, Rosa H. Jimenez, Daniela Hristova, Delphine Masschaele, Renato Mantegazza, Andreas Meisel, Shahram Attarian, On behalf of the ADAPT NXT Study Group   +16 more
wiley   +1 more source