Results 221 to 230 of about 1,455,121 (302)

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

Comments: "Are smartphones a tool to cope with the fear of childbirth? The correlation between the fear of loss of connection and the fear of childbirth". [PDF]

Rev Assoc Med Bras (1992)
Gabr SA.
europepmc   +1 more source

Temporal Interference Stimulation of Centromedian‐Parafascicular Complex in Disorders of Consciousness: A Pilot Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Treatment of disorders of consciousness (DoC) remains a major clinical challenge, and noninvasive, targeted modulation of deep brain structures has emerged as a promising therapeutic strategy. We aimed to evaluate the feasibility/safety and preliminary effects of thalamic temporal interference stimulation (TIS) targeting centromedian‐
Gengyao Hu, Changgeng Song, Dianwei Wu, Xiaoqian Niu, Jianmin Hao, Lijuan Liu, Xiaogang Kang, Wen Jiang   +7 more
wiley   +1 more source

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome. [PDF]

Am J Hum Genet
Anderson KJ, Thorolfsdottir ET, Nodelman IM, Halldorsdottir ST, Benonisdottir S, Alghamdi MA, Almontashiri NAM, Barry BJ, Begemann M, Britton JF, Burke S, Cogne B, Cohen ASA, de Diego Boguñá C, Eichler EE, Engle EC, Fahrner JA, Faivre L, Fradin M, Fuhrmann N, Gao CW, Garg G, Grečmalová D, Grippa M, Harris JR, Hoekzema K, Hershkovitz T, Hubbard S, Janssens K, Jurgens JA, Kmoch S, Knopp C, Koptagel MA, Ladha FA, Lapunzina P, Lindau T, Meuwissen M, Minicucci A, Neuhaus E, Nizon M, Nosková L, Park K, Patel C, Pfundt R, Prasun P, Rahner N, Robin NH, Ronspies C, Roohi J, Rosenfeld J, Saenz M, Saunders C, Stark Z, Thiffault I, Thull S, Velasco D, Velmans C, Verseput J, Vitobello A, Wang T, Weiss K, Wentzensen IM, Pilarowski G, Eysteinsson T, Gillentine M, Stefánsson K, Helgason A, Bowman GD, Bjornsson HT.   +68 more
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

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients. [PDF]

Clin Genet
Bergès C, Sauvestre C, Naudion S, Delorme CV, Smol T, Rama M, Moortgat S, Maystadt I, Kersseboom R, Wilke M, Barakat TS, Vial Y, Perrin L, Passemard S, Ahmad F, Umair M, Haack T, Grimmel M, Kuechler A, Slavotinek A, Devine P, Hodoglugil U, Zafar F, Afzal E, Dudding-Byth T, Jouret G, Herissant L, Efthymiou S, Houlden H, Legendre M, Michaud V.   +30 more
europepmc   +1 more source

Behavior - Genetics

, 2014
openaire   +2 more sources

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Decoding Positive Deviance Approach in the Lens of Behavioral Genetics and Behavioral Economics

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Sudip Bhattacharya, Shailesh Tripathi, Ujjwal Kumar, Sukhpreet Singh, Vanisree Ramanathan, Amarjeet Singh   +5 more
doaj   +1 more source

Phenotype-Specific Transcriptomic Responses to Glucocorticoid Signaling in the Prefrontal Cortex and Dorsal Raphe Nucleus Following Chronic Social Stress. [PDF]

Int J Mol Sci
Ritter P, Shuliupova A, Reshetnikov V, Bondar N.   +3 more
europepmc   +1 more source