Results 291 to 300 of about 4,075,610 (383)
Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study
Annals of Neurology, EarlyView.Objective
Landau–Kleffner syndrome (LKS), is a rare, poorly‐understood epileptic encephalopathy with spike–wave activation in sleep associated with mutations in GRIN2A, encoding the N‐Methyl‐D‐Aspartate receptor (NMDAR) GluN2A subunit. Physicians rely on empirical treatments, with scarce information on treatment efficacy and outcomes.Adeline Ngoh, Maria Clark, Rebecca Greenaway, Xiumin Chen, Kimberley M. Reid, Katy Barwick, Esther Meyer, Dale Moulding, Natalie Trump, J. Helen Cross, Sean D. Fraser, Lachlan de Hayr, Dimitri M. Kullmann, Joseph W. Lynch, Robert J. Harvey, Manju A. Kurian +15 morewiley +1 more sourcePredictive model of sleep disorders in pregnant women using machine learning and SHAP analysis. [PDF]
BMC Pregnancy ChildbirthLiu C, Lin Y, Wang L, Li H, Li Y, Yang D, Wang C, Yu Z, Wang H, Du Y, Guan S. +10 moreeuropepmc +1 more sourceHeart Rate Profiles During Exercise and Incident Parkinson's Disease
Annals of Neurology, EarlyView.Objective
To determine whether established heart rate parameters of exercise, related to cardiac autonomic function, are associated with incident Parkinson's disease, independent of both clinical and autonomic prodromal features. Methods
A study of UK Biobank participants who performed a standardized bicycle exercise test (2009–2013), followed until ...Stefan van Duijvenboden, Julia Ramírez, Job Scheurink, Sirwan K. L. Darweesh, Michele Orini, Andrew Tinker, Patricia B. Munroe, Jos Thannhauser, Luc Evers, Joanna IntHout, Pier D. Lambiase, Bastiaan R. Bloem, Aiden Doherty, Marc A. Brouwer +13 morewiley +1 more sourceMutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Annals of Neurology, EarlyView.Objective
Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E. Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D. Clark, Jill A. Rosenfeld, Carrie A. Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D. Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A. Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E. Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I. Gold, Elisabeth Schuler, Amna Kashgari, Rakan F. Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H.G Monje, Dimitri Krainc, Niccolò E. Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R. Lupski, Manju A. Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth +140 morewiley +1 more source
