Results 161 to 170 of about 623,254 (248)

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Adenosine monophosphate–activated protein kinase activation is associated with suppression of NLRP3 inflammasome–mediated neuroinflammation in a weight‐drop model of traumatic brain injury in Sprague–Dawley rats

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the study's schematic model. Adenosine monophosphate–activated protein kinase (AMPK) activators exhibited neuroprotection in the weight‐drop model of traumatic brain injury by improving cognition and regulating oxidative stress, microglial activation, and nucleotide‐binding oligomerization domain, leucine‐rich repeat,
Triveni Kodi, Paka Sravan Kumar, Krishnadas Nandakumar, Anoop Kishore   +3 more
wiley   +1 more source

An Investigation of Sleep Macro‐ and Microarchitecture by APOE Genotype

Annals of Neurology, EarlyView.
Objectives Apolipoprotein E ε4 (APOE ε4), a robust genetic risk factor for Alzheimer's disease (AD) is associated with functional connectivity deficits and amyloid pathology in brain regions involved in sleep regulation. Thus, alterations in sleep architecture may be one pathway through which ε4 contributes to Alzheimer's disease vulnerability. However,
Gawon Cho, Anne Chen, Eunyoung Choi, Orfeu M. Buxton, Daniel Kay, Adam Mecca, Brienne Miner   +6 more
wiley   +1 more source

Neurotransmitter‐Defined Degeneration Patterns in Sporadic and C9orf72‐Associated Amyotrophic Lateral Sclerosis: Predilection to GABAergic, Serotonergic, Opioid, Glutamatergic, Endocannabinoid, and Microglial Systems—Implications for Therapy Development

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a markedly distinctive clinical and neuroradiological signature, with the preferential involvement of specific brain networks and the apparent sparing of others. The molecular underpinnings of the strikingly selective anatomical vulnerability have not been fully elucidated to date despite the potential ...
Marlene Tahedl, We Fong Siah, Jasmin Lope, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Alison Toomey, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Atypical Foster Kennedy Syndrome With Orbital Apex Involvement Secondary to Intracranial Meningiomatosis: A Case Report. [PDF]

Am J Case Rep
Bazhar H, Moulahid L, Azemour Z, Bouslous N, Moustaine MO, Shamil L.   +5 more
europepmc   +1 more source

Liquid–Liquid Equilibrium Data for Refined Olive Pomace Oil + Oleic Acid + Ethanol + Water Systems: Application to Solvent Deacidification

Journal of the American Oil Chemists' Society, EarlyView.
ABSTRACT This study presents the first experimental liquid–liquid equilibrium (LLE) data for quaternary systems composed of refined olive pomace oil, oleic acid, ethanol, and water at 303.15 K. These data are essential for the design and optimization of solvent‐based deacidification processes, particularly for oils with high free fatty acid (FFA ...
Jacqueline Mansano Ortega, Andresa Feihrmann, Guilherme Duenhas Machado, Lucio Cardozo‐Filho, Francisco Adrian Sánchez, Vladimir Ferreira Cabral   +5 more
wiley   +1 more source

Optic Nerve Atrophy Conditions Associated With 3D Unsegmented Optical Coherence Tomography Volumes Using Deep Learning.

JAMA Ophthalmol
Szanto D, Wang JK, Woods B, Erekat A, Garvin M, Kardon R, Kupersmith MJ.   +6 more
europepmc   +1 more source

Mitochondrial Control of Myelination, Bioenergetics, Oxidative Stress, and the Pathogenesis of Optic Neuropathies. [PDF]

Int J Mol Sci
Sahibzada H, Malik R, Abu-Amero KK.
europepmc   +1 more source