Results 91 to 100 of about 3,993,593 (292)

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

Nighttime Primary Headaches in Children: Beyond Hypnic Headache, a Comprehensive Review

Life
Many headaches at night arise due to primary headache disorders, which occur independently of other symptoms and are not caused by another medical condition. Primary headache disorders with nighttime attacks can include tension-type headaches, migraines,
Beatrice Baldo, Ilaria Bonemazzi, Antonella Morea, Roberta Rossi, Alessandro Ferretti, Vittorio Sciruicchio, Alessia Raffagnato, Vincenzo Raieli, Antonia Versace, Irene Toldo   +9 more
doaj   +1 more source

Genetic Resilience and Resistance in Alzheimer's Disease Diagnosis and Pathology

Annals of Neurology, EarlyView.
Objective Some individuals avoid Alzheimer's disease (AD) pathology as they age, or retain cognition despite substantial pathology, suggesting mechanisms of resistance or resilience to neurodegeneration. Educational attainment (EA) is associated with reduced risk of cognitive decline, although the underlying mechanisms remain unclear.
Ganna Leonenko, Kalliopi Mavromati, Lynne Hughes, Jonas S. Sundarakumar, Keeley Brookes, Kevin Morgan, Terry Quinn, Valentina Escott‐Price, the Alzheimer's Disease Neuroimaging Initiative   +8 more
wiley   +1 more source

Pupil diameter in migraine and tension headache [PDF]

, 1987
Pupil diameter was measured in darkness and in dull and bright illumination in 39 migrainous patients and in 15 tension headache sufferers during headache. In 21 migrainous patients, measurements were repeated during the headache-free interval.
Drummond, P.D.
core  

Serum Chitotriosidase Links to Activated Glia at Chronic Active Lesion Rims in Multiple Sclerosis Brain

Annals of Neurology, EarlyView.
Objective The objective of this study was to explore the association between 18 kDa translocator protein (TSPO)‐positron emission tomography (PET)–measurable glial activation and serum chitotriosidase (CHIT1) in people with multiple sclerosis (pwMS), and its expression in postmortem MS brain tissue.
Venla Ahola, Maija Saraste, Edoardo Pedrini, Joel Tuomaala, Luzia Buchholz, Markus Matilainen, Johanna Lindenberg, Eeva‐Christine Brockmann, Maria Sofia Martire, Sofia Sandgren, David Leppert, Jens Kuhle, Tanja Kuhlmann, Martina Absinta, Laura Airas   +14 more
wiley   +1 more source

HEADACHE AND SLEEP DISORDERS IN CHILDHOOD

, 2007
Clinical observations supported by experimental data suggest that sleep and headache share common anatomical, physiological and biochemical substrates, as shown by the possibility of coexisting also in the same patient of headache and sleep disorders ...
CAROTENUTO, Marco, CHIANESE M, PASCOTTO A.   +2 more
core  

Chronic Tension-Type Headache

, 2014
A 42-year-old woman was admitted to the emergency room (ER) for the worsening of a continuous headache. She reported of having very frequent headaches for the last couple of years. Last year she had had headaches every day.
Necdet Karli, Karlı, Necdet, Zarifoğlu, Mehmet, Mehmet Zarifoğlu   +3 more
core   +1 more source

Astrocyte SMN Restoration and Forskolin Treatment Improve SMA Synaptic Pathology

Annals of Neurology, EarlyView.
Objective Early phenotypic presentation of central afferent synapse dysfunction within patients with spinal muscular atrophy (SMA) represents a key target for therapeutic development; however, the underlying disease mechanisms remain unresolved. By further investigating motor neuron synapse and peri‐synaptic astrocyte process (PAP) defects in human SMA
Emily Welby, Xiaojie Liu, Melinda Wojtkiewicz, Linda Berg Luecke, Rebekah L. Gundry, Qing‐Song Liu, Allison D. Ebert   +6 more
wiley   +1 more source

Case Report of a New Headache Developed by a Combat Soldier after an Episode of Exertional Heat Illness

Frontiers in Neurology, 2017
Only a few authors have reported about a new-onset headache among patients who sustained an episode of an exertional heat illness (EHI). This report presents a healthy and physically fit 20-year-old male who developed a completely new headache after an ...
Haggai Schermann, Haggai Schermann, Mikhail Sherman, Ran Rutenberg   +3 more
doaj   +1 more source

Accelerated Epigenetic Aging in Frontotemporal Dementia Highlights Smoking, Inflammation, and Metabolic Signals

Annals of Neurology, EarlyView.
Objective Epigenetic clocks are biomarkers of biological aging influenced by lifestyle and systemic factors. Accelerated epigenetic aging has been associated with neurodegeneration, but its relevance in frontotemporal dementia is unclear. We investigated biological aging in frontotemporal dementia using the GrimAge2 epigenetic clock, a DNA methylation ...
Daphne Nijland, Sven J. van der Lee, Eska Marye de Haan, Naren Ramesh, Sterre C.M. de Boer, Everard G.B. Vijverberg, Henne Holstege, Yolande A.L. Pijnenburg, Roel A. Ophoff, Lianne M. Reus   +9 more
wiley   +1 more source