Results 221 to 230 of about 3,765,002 (291)

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

Glutamine metabolism remodels tumor-associated macrophage: mechanistic explorations and new strategies in translational medicine. [PDF]

Front Immunol
Cui J, Yan X, Song J.
europepmc   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

AI-Enabled Reduction of Animal Use in Cardiovascular Translational Medicine: Regulatory and Technological Perspectives. [PDF]

Life (Basel)
Dinc R, Ardic N.
europepmc   +1 more source

Stage‐Dependent β‐Synuclein Links MRI and Cognitive Decline in Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain‐enriched β‐synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum.
Ulaş Ay, Merve Alaylioglu, Erdi Sahin, Sanem Sultan Yoruk Oner, Gulce Iskan, Gulce Cosku Yilmaz Cakan, Gozde Kizilates‐Evin, Emre Hari, Elif Kurt, Erdinc Dursun, Basar Bilgic, Hasmet Hanagasi, Hakan Gurvit, Tamer Demiralp, Duygu Gezen‐Ak, Bedia Samanci   +15 more
wiley   +1 more source

Microengineered patient-derived endometrium-on-a-chip for the evaluation of endometrial receptivity and personalised translational medicine. [PDF]

Nat Commun
Lee G, Lee YG, Koo HS, Hwang SY, Lee D, Lee J, Yu WJ, Kim YY, Ku SY, Park JC, Ahn J, Kang YJ.   +11 more
europepmc   +1 more source

Anti‐CD20 Discontinuation Versus Continuation in People Aged Over 50 With Non‐Active Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether discontinuing anti‐CD20 therapy in people with relapsing‐onset MS aged over 50 is associated with an increased risk of relapse, inflammatory activity, confirmed disability accrual, and serious infection compared with continuing therapy.
Alexia Moukhine, Fabien Rollot, Romain Casey, Nicolas Collongues, Sandra Vukusic, Guillaume Mathey, Anne Laure Dubessy, Jonathan Ciron, Jérôme De Seze, Aurélie Ruet, Pierre Labauge, Arnaud Kwiatkowski, Hélène Zephir, Caroline Papeix, Gilles Defer, Christine Lebrun‐Frenay, David Axel Laplaud, Eric Berger, Eric Thouvenot, Jean Pelletier, Abdullatif Al Khedr, Olivier Casez, Bertrand Bourre, Abir Wahab, Laurent Magy, Jean‐Philippe Camdessanché, Ines Doghri, Solène Moulin, Mariana Sarov Rivière, Karolina Hankiewicz, Amélie Dos Santos, Corinne Pottier, Eric Manchon, Jennifer Aboab, Maia Tchikviladze, Thomas David, Gilles Edan, Emmanuelle Le Page, Laure Michel, Anne Kerbrat, OFSEP Investigators   +40 more
wiley   +1 more source

Bio fluid exosomes: promises, challenges, and future directions in translational medicine. [PDF]

J Transl Med
Soltanmohammadi F, Maghsoodi M, Alizadeh E, Adibkia K, Azarmi Y, Mahmoudi Gharehbaba A, Javadzadeh Y.   +6 more
europepmc   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source