Results 211 to 220 of about 42,209 (310)

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Multipurpose vaginal rings: preferences from a national discrete choice experiment survey among US women. [PDF]

Front Reprod Health
Gottert A, Mathur S, Friedland BA, Abuya T, Bruce IV, Burnett-Zieman B, Plagianos MG, Shetty S, Nguyen M, Sales JM, Quaife M, Haddad LB.   +11 more
europepmc   +1 more source

Baseline Neuroinflammation Stratifies TSPO‐PET Response to Disease‐Modifying Therapy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate which baseline clinical and imaging characteristics best predict TSPO‐PET‐measurable reduction in glial activation following treatment of multiple sclerosis (MS), to utilize this information for designing more efficient biomarker‐based clinical trials targeting glial activation.
Marlene T. Morch, Markus Matilainen, Giulia N. Baldrighi, Marjo Nylund, Maija Saraste, Laura Airas   +5 more
wiley   +1 more source

Warming Up Body and Mind: Combined Cognitive and Exercise Priming Improves 1-Mile Time Trial Performance in Recreational Runners. [PDF]

Eur J Sport Sci
Mortimer H, Dallaway N, Díaz-García J, Ring C.   +3 more
europepmc   +1 more source

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif, Diane Demailly, Gabriella A. Horvàth, Juan Dario Ortigoza Escobar, Nathalie Dorison, Mayté Castro Jiménez, Cécile A. Hubsch, Thomas Wirth, Gun‐Marie Hariz, Sophie Huby, Morgan Dornadic, Zohra Souei, Muhammad Mushhood Ur Rehman, Simone Hemm, Mehdi Boulaymen, Eduardo M. Moraud, Jocelyne Bloch, Xavier Vasques   +17 more
wiley   +1 more source

Fancl-mutant mice reveal central role of monoubiquitination in Fanconi anemia and a model for therapeutic gene editing. [PDF]

Blood Adv
Liu L, Glaser A, Isiaku AI, Fairfax K, Casolari DA, Ristovski A, Murphy V, van Twest S, Henrikus SS, Heraud-Farlow J, Granger E, Novakovic S, Monks O'Byrne SF, Tsui V, Conyers R, Gonda TJ, Crismani W, D'Andrea RJ, Heierhorst J, Deans AJ.   +19 more
europepmc   +1 more source

Gravity‐Dependent Modulation of Downbeat Nystagmus: Insights From Velocity‐Storage Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Downbeat nystagmus varies with head position, a phenomenon termed gravity‐dependent modulation. We aimed to clarify its mechanism using a velocity‐storage model. Methods In 10 patients with downbeat nystagmus due to cerebellar disorders, we recorded eye movements at different pitch‐ and roll‐axis head positions.
Ji‐Hyung Park, Eun‐Hyuk Choi, Jorge Otero‐Millan, David S. Zee, Jeong‐Yoon Choi, Ji‐Soo Kim   +5 more
wiley   +1 more source

The complete mitochondrial genome of <i>Anelytra</i> (<i>Anelytra</i>) <i>eunigrifrons</i> (Orthoptera, Tettigoniidae: Conocephalinae). [PDF]

Microbiol Resour Announc
Li G, Yu T, Bian X, Zhang B.
europepmc   +1 more source

Intracerebral Hemorrhage Induces Monocyte TNF Signaling in Patients That Is Suppressed by BAF312

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Intracerebral hemorrhage (ICH) causes high morbidity and mortality, with neurotoxic inflammation driven by infiltrating monocytes. This study is an in‐depth longitudinal examination of the immune response during the first week of ICH in the presence and absence of the immunomodulatory drug BAF312 (Siponimod).
Jonathan Howard DeLong, Sebastian Díaz‐Pérez, Kevin Navin Sheth, Jang‐Ho Cha, C. J. Malanga, Patricia G. M. Wagner, Nicole Pezous, Aurelie Hanin, Kyle B. Walsh, H. E. Hinson, Lauren Hachmann Sansing   +10 more
wiley   +1 more source

Imidazole-Functionalized Thieno[3,2‑<i>c</i>]quinolines as Promising Antiproliferative Agents: Design, Synthesis, NCI-60 Screening, and Computational Analysis. [PDF]

ACS Omega
La Monica G, Bono A, Alamia F, Tocco D, Lauria A, Martorana A.   +5 more
europepmc   +1 more source