Results 81 to 90 of about 204,052 (290)

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Common Neural Correlates for Subjective and Objective Sleepiness Indices: A Functional Connectivity Study

Nature and Science of Sleep
Yuki Motomura,1,2 Shingo Kitamura,1 Kentaro Oba,1,3 Ruri Katsunuma,1 Yuri Terasawa,1,4 Akiko Hida,1 Yoshiya Moriguchi,1,5 Kazuo Mishima1,6 1Department of Sleep-Wake Disorders, National Institute of Mental Health, National Center of Neurology and ...
Motomura Y, Kitamura S, Oba K, Katsunuma R, Terasawa Y, Hida A, Moriguchi Y, Mishima K   +7 more
doaj  

Schizophrenia Genetics Modulates Clinical Depressive Features

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia (SCZ) genetic liability, quantified by polygenic scores (PGS), may influence clinical phenotypes in major depressive disorder (MDD). We investigated the effect of the SCZ‐PGS derived from the latest SCZ genome‐wide association study (GWAS) on MDD symptom severity, comorbidities, and treatment outcomes.
Alessandro Serretti, Daniel Souery, Siegfried Kasper, Joseph Zohar, Stuart Montgomery, Panagiotis Ferentinos, Dan Rujescu, Raffaele Ferri, Giuseppe Fanelli, Chiara Fabbri, Raffaella Zanardi, Francesco Benedetti, Bernhard T. Baune, Julien Mendlewicz   +13 more
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Consequences and management of sleep-wake rhythm disorders resulting from social jetlag and nightshifts

, 2023
Anna Jargieło, Karolina KOSIERADZKA, Dominik ADAMOWICZ, J Stańczyk, Inga Łopuszyńska, Astrik Meliksetian, Alicja Wosińska, Dorota PAZIK, Katarzyna KOSECKA, P Rudziński   +9 more
openalex   +2 more sources

Examining the Impact of Domestic and Family Violence on Young Australians’ School‐Level Education

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australian policy and practice increasingly acknowledges the need to respond to children as victim‐survivors of domestic and family violence (DFV) in their own right. As part of this, and in recognition that schools often have the most consistent contact with young people experiencing DFV, there is mounting recognition of the role education ...
Rebecca Stewart, Kate Fitz‐Gibbon, Steven Roberts   +2 more
wiley   +1 more source

Non–24-hour sleep-wake rhythm disorder not driven by central circadian clock dysregulation: is it not “intrinsic”? [PDF]

, 2021
Tsuyoshi Kitajima
openalex   +1 more source

Association between Human Leukocyte Antigen Alleles and Neuropathological Outcomes in Lewy Body Disease

Annals of Neurology, EarlyView.
Objective Lewy body disease (LBD) is a complex neurodegenerative disorder characterized by the accumulation of misfolded α‐synuclein in the brain. Neuroinflammation has long been implicated in LBD pathogenesis, and recent genetic studies in Parkinson's disease (a clinical manifestation of LBD) have shown consistent association with the human leukocyte ...
Marios Gavrielatos, Michael G. Heckman, Alexandra I. Soto‐Beasley, Sophia G. Blumenfeld, Xu Hou, Shunsuke Koga, Melissa E. Murray, Koji Kasanuki, Daisuke Ono, Fabienne C. Fiesel, Ryan J. Uitti, Julie A. Fields, Hugo Botha, Vijay K. Ramanan, Kejal Kantarci, Val J. Lowe, Clifford R. Jack, Nilufer Ertekin‐Taner, J. Raphael Gibbs, Bryan J. Traynor, Clifton L. Dalgard, Rodolfo Savica, Jonathan Graff‐Radford, Ronald C. Petersen, R. Ross Reichard, Neill R. Graff‐Radford, Tanis J. Ferman, Bradley F. Boeve, Zbigniew K. Wszolek, Wolfdieter Springer, Ziv Gan‐Or, Emmanuel Mignot, Sonja W. Scholz, Dennis W. Dickson, Owen A. Ross   +34 more
wiley   +1 more source

Sleep deprivation therapy to reset the circadian pacemaker in a non-24-hour sleep-wake disorder: a case report [PDF]

, 2021
Kelly Guichard, Jean‐Arthur Micoulaud‐Franchi, Pierre Philip, Jacques Taillard   +3 more
openalex   +1 more source

Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures

Annals of Neurology, EarlyView.
Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick, Rup K. Sainju, Roshni Nair, Deidre N. Dragon, Eduardo Bravo, Laura Vilella, Xiaojin Li, Samden D. Lhatoo, George B. Richerson, Brian K. Gehlbach   +9 more
wiley   +1 more source