Results 151 to 160 of about 716,056 (267)

Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages. [PDF]

J Med Genet
De Nicolo A, Eccles DM, Aaltonen K, Alhopuro P, Ariansen SL, Biancolella M, Caputo SM, Caron O, Cavalli P, Chiang J, Claes KBM, Cuaresma ECS, de la Hoya M, De Pauw A, Díez O, Domínguez-Valentin M, Ehrencrona H, Fjeldvær MK, Fostira F, Francia MBD, Galego-Carro J, Gómez García EB, Hassan NT, Hauke J, Hirasawa A, Huang X, Ilagan-Cargullo EMH, Imoto I, Jonnagadla S, Karthikeyan M, Kleiblova P, Konstantopoulou I, Kowalik A, Kvist A, Lesueur F, Li ST, López-Fernández A, Machackova E, Martins A, Mensenkamp AR, Momozawa Y, Montalban G, Monteiro ANA, Nevanlinna H, Ngeow J, Palmero EI, Pedersen IS, Que FVF, Santamariña M, Santana Dos Santos E, Singer CF, Siołek M, Solano AR, Soukupova J, Suresh PD, Szczepaniak M, Tan YY, Teo SH, Tham E, Thomassen M, Tsaousis G, Hansen TVO, Vega A, Velasco-Sampedro EA, Wangensteen T, Wappenschmidt B, Yannoukakos D, Yoon SY, Spurdle AB, Radice P.   +69 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

Google Translate Voice App vs. Qualified Interpreters: An Exploratory Study of Clinical Accuracy in Real-World Speech/Voice Encounters. [PDF]

Healthcare (Basel)
Feinberg I, Lee-Laminack H, Tighe EL, Owoeye I.   +3 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

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

Rethinking biomarkers in psychiatry: from etiological uncertainty to actionable prediction. [PDF]

World Psychiatry
Meyer-Lindenberg A, Schwarz E.
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

Bridging the Gap: Translated Medical Education to Support Cystic Fibrosis Centers From Non-English Speaking Countries. [PDF]

Pediatr Pulmonol
Smith C, Chadwick HK, Peckham DG, Hill K, Voivod O, Krasnyk M, Gökdemir Y, Gorgun I, Özdemircioğlu F, Makukh H, De Keyser H, Francis C, Štěpánková K, Szabo CE, Drevinek P.   +14 more
europepmc   +1 more source

CSF Cytokine Network Organization Predicts Progression Independent of Relapse and MRI Activity in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progression independent of relapse activity is a major determinant of long‐term disability in multiple sclerosis, but its immunopathologic basis remains incompletely understood. We investigated whether relapse‐independent progression in radiologically stable relapsing–remitting multiple sclerosis is associated with distinct ...
Antonio Bruno, Matteo Conti, Ettore Dolcetti, Federica Azzolini, Angela Borrelli, Roberta Fantozzi, Mario Stampanoni Bassi, Giovanni Galifi, Giuseppe Maccarrone, Luca Montaguti, Marco Cervigni, Maddalena Dal Pozzo, Roberto Furlan, Annamaria Finardi, Girolama Alessandra Marfia, Marco Salvetti, Antonella Conte, Fabio Buttari, Diego Centonze, Luana Gilio   +19 more
wiley   +1 more source

AI-enabled language technologies for language-mediated learning and clinical communication in international undergraduate dental education: a scoping review. [PDF]

Front Med (Lausanne)
Qiang W, Deng X, Hou T, Qiang L.
europepmc   +1 more source