Results 111 to 120 of about 949,712 (308)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Evaluation of the neurovascular pathway: The value of specialized training in reducing in-hospital stays and increasing IV thrombolysis rates. Experience of the neurovascular unit at EHU Oran from 2015 to 2024. [PDF]

Batna Journal of Medical Sciences
Introduction: Intravenous thrombolysis (IVT) significantly improves clinical outcomes in ischemic stroke; however, its clinical benefit diminishes rapidly over time.
Douniazede BADSI, Khadidja TERKI, Djawed SAYEH, Djamel CHAKRAR
doaj   +1 more source

Accuracy of death certification and hospital record linkage for identification of incident stroke [PDF]

, 2008
Background There is little information on the validity of using record linkage with routinely collected data for case ascertainment of stroke in large population-based studies in the UK. We examined the accuracy of these routine record linkage approaches
Khaw Kay-Tee, Luben Robert N, Myint Phyo K, Sinha Shubhada   +3 more
core   +2 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Ischaemic stroke in women and men – in-hospital prognosis

Studia Medyczne, 2022
Justyna Tracz, Iwona Gorczyca-Głowacka, Marcin Wełnicki, Ewa Kołodziejska, Anita Rosołowska, Artur Mamcarz, Beata Wożakowska-Kapłon   +6 more
doaj   +1 more source

Tau-network mapping of domain-specific cognitive impairment in Alzheimer’s disease

NeuroImage: Clinical
Fibrillar tau gradually progresses in the brain during the course of Alzheimer’s disease (AD). However, the contribution of tau accumulation in a given brain region to decline in different cognitive domains and thus phenotypic heterogeneity in AD remains
Ying Luan, Anna Rubinski, Davina Biel, Diana Otero Svaldi, Ixavier Alonzo Higgins, Sergey Shcherbinin, Michael Pontecorvo, Nicolai Franzmeier, Michael Ewers   +8 more
doaj   +1 more source

Assessing plantar sensation in the foot using the FOot Roughness Discrimination Test (FoRDT™): a reliability and validity study in stroke [PDF]

, 2019
BACKGROUND: The foot sole represents a sensory dynamometric map and is essential for balance and gait control. Sensory impairments are common, yet often difficult to quantify in neurological conditions, particularly stroke.
Bi J, Bland M, Bolognin N, Carey L, Carey LM, Cohen J, Doros G, Eckstrand E   +7 more
core   +3 more sources

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Association of Magnet Status With Hospitalization Outcomes for Ischemic Stroke Patients. [PDF]

, 2017
BACKGROUND: It is not clear whether Magnet recognition by the American Nurses Credentialing Center (nursing excellence program) is associated with improved patient outcomes.
Bekelis, Kimon, MacKenzie, Todd A., Missios, Symeon   +2 more
core   +2 more sources

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
wiley   +1 more source