Results 51 to 60 of about 12,103 (259)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Abnormal Motor Activity and Thermoregulation in a Schizophrenia Rat Model for Translational Science [PDF]

, 2007
Schizophrenia is accompanied by altered motor activity and abnormal thermoregulation; therefore, the presence of these symptoms can enhance the face validity of a schizophrenia animal model.
Gyongyi Horvath, Gabriella Kekesi, Zita Petrovszki, Gyorgy Benedek, Sheila Fleming, V Wiescholleck, Z Petrovszki, G Kekesi, R Tandon, S Walther, GE Duncan, K Kawakami, P Oliver, TW Chong, H Hermesh, R Shiloh, P Kreuzer, P Salmi, P Guzik, K Hayashi, J Piskorski, J Piskorski, A Ahmed, P Guzik, HA Middelkoop, A Wirz-Justice, P Afonso, A Harkin, Z Petrovszki, T Petrasek, D Pritchett, H Aréchiga, R Shiloh, S Boettger, M Costa, S Akselrod, G Recordati, E Moon, KJ Bar, P Guzik, A Del Arco, JM Stone, PJ Schwartz, NV Radonjic, WG Clark, G Skagerberg, V Bromundt, A Becker, G Tuboly   +48 more
core   +4 more sources

Bestial boredom: a biological perspective on animal boredom and suggestions for its scientific investigation [PDF]

, 2017
Boredom is likely to have adaptive value in motivating exploration and learning, and many animals may possess the basic neurological mechanisms to support it.
Abou-Ismail, Acee, Alexander, Anderson, Anderson, Anderson, Anum, Aston-Jones, Baenninger, Baenninger, Bardo, Bateson, Bateson, Berlyne, Berns, Blackshaw, Block, Block, Boksem, Boys, Brydges, Buhusi, Burn, Calderon, Carere, Charlotte C. Burn, Coppens, Dahlen, Danckert, Danesi, de Jong, Dickens, Didier-Weil, Douglas, Droit-Volet, Eastwood, Elder, Fahlman, Farmer, Fazzi, Flaherty, Fureix, Galef, Gallup, Gipson, Goldberg, Guggisberg, Harris, Haslam, Hawkins, Held, Hochner, Howard, Hunt, Hänninen, Jahanshahi, Jones, Kass, Kass, Keller, Kirkden, Larson, Latham, Laviola, Lei, Litva, Lorist, Lund, Macrı̀, Mann, Martin, Mason, Mason, Mason, Mason, Mason, Mason, Mason, Mather, Mather, Mavjee, Meagher, Meagher, Meck, Meck, Mendez, Mendl, Mercer-Lynn, Moynihan, Möstl, Nanda, Newberry, Noreika, Oxendine, Pattyn, Paule, Pellis, Pepperberg, Piaget, Pitt, Potter, Provine, Pulce, Reader, Rockman, Russell, Russell, Sackett, Shalev, Shyne, Simen, Steele, Stevenson, Studnitz, Tebbich, Thackray, Tinbergen, Toohey, Törnqvist, Wahidin, Weber, Wegner, Wemelsfelder, Wemelsfelder, Wilson, Winters, Wittmann, Wittmann, Wróbel, Wu, Würbel, Yeo   +131 more
core   +1 more source

Navigating Whiteness in Australia's Anti‐Racism Movement: A Duoethnographic Inquiry by Women of Colour Scholars

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper applies Critical Race Theory (CRT) to explore how whiteness operates within Australia's anti‐racism movement as a structuring force that shapes discourse, practice and policy. Despite the anti‐racism movement offering crucial spaces for resistance and reform, it remains entangled in Australia's settler‐colonial present and systemic ...
Franka Vaughan, Aish Ravi
wiley   +1 more source

Convolutional Neural Network for Stereotypical Motor Movement Detection in Autism [PDF]

, 2015
Autism Spectrum Disorders (ASDs) are often associated with specific atypical postural or motor behaviors, of which Stereotypical Motor Movements (SMMs) have a specific visibility.
Bizzego, Andrea, Furlanello, Cesare, Jurman, Giuseppe, Kia, Seyed Mostafa, Rad, Nastaran Mohammadian, Venuti, Paola   +5 more
core   +1 more source

PURA syndrome : clinical delineation and genotype-phenotype study in 32 individuals with review of published literature [PDF]

, 2017
Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia.
Alvi, Mohsan, Anderson, Mel, Baralle, Diana, Bok, Levinus A., Brunner, Han G., Carvalho, Karen S., Chandler, Kate E., Clayton-Smith, Jull, Clowes, Virginia E., Cobben, Jan Maarten, Cooper, Nicola S., Douzgou, Sofia, Dowling, James J., Engelen, Marc, Foo, Roger, Green, Andrew, Hunt, David, Isohanni, Pirjo, Janowski, Robert, Keros, Sotirios, Lai, Angeline H.M., Lassuthova, Petra, Lev, Dorit L., Leventer, Richard J., Lonnqvist, Tuula, Mansour, Sahar, Mok Siu, Victoria, Nellaker, Christoffer, Neupauerova, Jana, Niessing, Dierk, Pfundt, Rolph, Rankin, Julia, Reijnders, Margot R.F., Rouhl, Rob P.W., Ruhoy, Ilene, Schieving, Jolanda, Selber, Paulo, Self, James, Smeets, Eric, Smithson, Sarah F., Stegmann, Alexander P.A., Sterbova, Katalin, Stevens, Servi J.C., Stumpel, Connie T.R.M., Tan, Ene-Choo, The DDD study, van Dijk, Katinke, van Essen, Ton J., van Hoeckel, Ceciel, Vreeburg, Maaike, Waugh, Jeff L., Whiteford, Margot, Williams, Sheeley   +52 more
core   +7 more sources

The Cost of the National Disability Insurance Scheme: Australia's Print‐Media Discourse

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper examines the way that Australian newspapers have framed the cost of the National Disability Insurance Scheme (NDIS). Introduced in 2013, the NDIS represented a major change in Australia's disability support policy, moving for the first time to a nationwide universal insurance model.
Meera Chinnappa, Jennifer Smith‐Merry, Kuo‐yi Jade Chang   +2 more
wiley   +1 more source

Quo vadis DSM-6? An expert survey on the classification, diagnosis, and differential diagnosis of body-focused repetitive behaviors

Comprehensive Psychiatry
Background: Many conditions we now call body-focused repetitive behaviors (BFRBs) have been subject to research for several decades, most notably trichotillomania and skin picking.
Steffen Moritz, Luca Noemi Hoyer, Noam Sarna, Amitai Abramovitch, Cristian Curran, Alessandro S. De Nadai, Stella Schmotz   +6 more
doaj   +1 more source

GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome [PDF]

, 2017
OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients ...
Bianchini, C, Carss, Kj, Dale, Rc, Danti, FEDERICA RACHELE, Galosi, Serena, Guerrini, R. 1., Kurian, Ma, Leuzzi, Vincenzo, Mahant, N, Mcshane, T, Mctague, A, Mohammad, Ss, Montomoli, M, Ng, J, Parrini, E, Raymond, Fl, Romani, M, Samanta, R, Shah, U, Vadlamani, G, Valente, Em   +20 more
core   +3 more sources

Automated Detection of Stereotypical Motor Movements in Autism Spectrum Disorder Using Recurrence Quantification Analysis [PDF]

Frontiers in Neuroinformatics, 2017
A number of recent studies using accelerometer features as input to machine learning classifiers show promising results for automatically detecting stereotypical motor movements (SMM) in individuals with Autism Spectrum Disorder (ASD). However, replicating these results across different types of accelerometers and their position on the body still ...
Großekathöfer, Ulf, Manyakov, Nikolay V., Mihajlović, Vojkan, Pandina, Gahan, Skalkin, Andrew, Ness, Seth, Bangerter, Abigail, Goodwin, Matthew S.   +7 more
openaire   +2 more sources