Results 291 to 300 of about 3,933,885 (384)

Mutations 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 more
wiley   +1 more source

Prevalence of common mental disorders and sleep disorder among adolescents and young adults with HIV: a systematic review and meta-analysis. [PDF]

BMJ Open
Tan Y, Ma Z, Cao Q, Gao SC, Xiong Y.
europepmc   +1 more source

Buried Treasure? Overlooked and Newly Discovered Evolutionary Contributions to Human Brain Diseases

Annals of Neurology, EarlyView.
Recapitulative schema of different exploratory levels of the evolutionary impact on human neurological diseases. Clinical neuroscience focuses on the mechanisms of brain function, but this approach falls short of insights into how the central nervous system (CNS) evolved, both in health and disease.
Nico J. Diederich, Martin Brüne, John S. Allen, Nicole Bender, Emiliano Bruner, Jean‐Pierre Changeux, Corrado Cali, Olga Dolgova, Anne Grünewald, Geneviève Konopka, Peng Jin, Roger Lemon, Gilberto Levy, Pierre Magistretti, Markus J. Rantala, Kathleen S. Rockland, Roger Sullivan, Annie Swanepoel, Toshiki Uchihara, Katrin Amunts, Christopher G. Goetz   +20 more
wiley   +1 more source

Voluntary wheel running exercise improves sleep disorder, circadian rhythm disturbance, and neuropathology in an animal model of Alzheimer's disease. [PDF]

Alzheimers Dement
Hu Y, Niu L, Chen Y, Yang H, Qiu X, Jiang F, Liu C, Cai H, Le W.   +8 more
europepmc   +1 more source

Identification of New KCNT1‐Epilepsy Drugs by In Silico, Cell, and Drosophila Modeling

Annals of Neurology, EarlyView.
Objective Hyperactive KCNT1 potassium channels, caused by gain‐of‐function mutations, are associated with a range of epilepsy disorders. Patients typically experience drug‐resistant seizures and, in cases with infantile onset, developmental regression can follow.
Michael G. Ricos, Bethan A. Cole, Rashid Hussain, Grigori Y. Rychkov, Zeeshan Shaukat, Nadia Pilati, Stephen P. Muench, Katie J. Simmons, Leanne M. Dibbens, Jonathan D. Lippiat   +9 more
wiley   +1 more source

Psychotherapeutic, pharmacological and other active interventions from the NICE guideline for post-traumatic stress disorder with sleep disorder: systematic review and meta-analysis. [PDF]

BMC Psychiatry
Zhao YF, Huang CY, Zhang ZX, Liu RB, Liu JL, Li XZ, Guo GL, Zhang C.   +7 more
europepmc   +1 more source

Sleep disorders in pregnancy

Journal of the Chinese Medical Association, 2016
Wen-Ling Lee, Peng-Hui Wang, Jong Ling Fuh   +2 more
openaire   +3 more sources

Sleep-Disordered Breathing in Acromegalics. Relation of Hormonal Levels and Quantitative Sleep Study by Means of Bedside Oximeter.

, 1999
Naokatsu Saeki, Shiroh Isono, Takashi Nishino, TOSHMIKO IUCHI, Akira Yamaura   +4 more
openalex   +2 more sources

Turning Slowly Predicts Future Diagnosis of Parkinson's Disease: A Decade‐Long Longitudinal Analysis

Annals of Neurology, EarlyView.
Objective Wearable technology allows accurate measurement of turning while walking, with cross‐sectional studies indicating that difficulty turning presents even in preclinical phases of Parkinson's disease. The aim of our study was to quantify rate of change of turning performance in a cohort of older adults, and test whether turning decline can ...
Morad Elshehabi, Clint Hansen, Markus A. Hobert, Anna‐Katharina von Thaler, Kathrin Brockmann, Bhargav Tallapragada, Florian Metzger, Daniela Berg, Walter Maetzler, Brook Galna   +9 more
wiley   +1 more source

Dietary Magnesium Intake Is Associated With Self-Reported Short Sleep Duration but Not Self-Reported Sleep Disorder. [PDF]

Brain Behav
Zhao S, Hu J, Yue C, Tian J, Zhou S, Zhu Q.   +5 more
europepmc   +1 more source