Results 61 to 70 of about 2,451 (126)

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, Volume 41, Issue 8, Page 2096-2106, August 2026.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source

Japanese Women's Attitudes Toward Learning Languages Other Than English in the Era of Global English

International Journal of Applied Linguistics, Volume 36, Issue 3, Page 2298-2308, August 2026.
ABSTRACT This study on female Japanese learners of the Korean language is situated in the centuries‐long anti‐Korean sentiments in Japan, the global popularity of the Korean Wave, particularly among women, and the essentialized image of socially marginalized young Japanese women who study English with romantic desires for Western men.
Yoko Kobayashi
wiley   +1 more source

Estradiol Replacement Modulates Synaptic Transmission‐Related Proteins in the Hippocampus of Ovariectomized Rats: An Exploratory Proteomic Approach

Journal of Neurochemistry, Volume 170, Issue 8, August 2026.
The estrogen deficiency in the hippocampus influences cognitive functions and control of food intake. Hippocampi of female rats, either control or ovariectomized, with or without estrogen replacement, were submitted to LC–MS/MS and analysis of pathway‐based functional roles of proteins affected by estrogen deficiency and replacement.
Amanda Paula Pedroso, Adriana Pereira Souza, Guilherme Araújo Câmara, Meira Maria Forcellini Machado, Valter Tadeu Boldarine, Lila Missae Oyama, Mônica Marques Telles, Alexandre Keiji Tashima, Eliane Beraldi Ribeiro   +8 more
wiley   +1 more source

Genotype-Phenotype Correlations in Alternating Hemiplegia

Pediatric Neurology Briefs, 2014
Researchers at the National Center of Neurology and Psychiatry, Kodaira, and multiple centers in Japan, analyze the clinical features and ATP1A3 mutations in 35 Japanese children diagnosed with alternating hemiplegia of childhood (AHC).
J Gordon Millichap, John J Millichap
doaj   +1 more source

Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition

Neurobiology of Disease, 2019
Dominant mutations of ATP1A3, a neuronal Na,K-ATPase α subunit isoform, cause neurological disorders with an exceptionally wide range of severity. Several new mutations and their phenotypes are reported here (p.Asp366His, p.Asp742Tyr, p.Asp743His, p ...
Elena Arystarkhova, Ihtsham U. Haq, Timothy Luebbert, Fanny Mochel, Rachel Saunders-Pullman, Susan B. Bressman, Polina Feschenko, Cynthia Salazar, Jared F. Cook, Scott Demarest, Allison Brashear, Laurie J. Ozelius, Kathleen J. Sweadner   +12 more
doaj   +1 more source

Zebrafish chemical screening reveals the impairment of dopaminergic neuronal survival by cardiac glycosides.

PLoS ONE, 2012
Parkinson's disease is a neurodegenerative disorder characterized by the prominent degeneration of dopaminergic (DA) neurons among other cell types. Here we report a first chemical screen of over 5,000 compounds in zebrafish, aimed at identifying small ...
Yaping Sun, Zhiqiang Dong, Hadie Khodabakhsh, Sandip Chatterjee, Su Guo   +4 more
doaj   +1 more source

Novel mouse model of alternating hemiplegia of childhood exhibits prominent motor and seizure phenotypes

Neurobiology of Disease
Pathogenic variants in ATP1A3 encoding the neuronal Na/K-ATPase cause a spectrum of neurodevelopmental disorders including alternating hemiplegia of childhood (AHC).
Nicole A. Hawkins, Jean-Marc DeKeyser, Jennifer A. Kearney, Alfred L. George, Jr.   +3 more
doaj   +1 more source

Unraveling Alternating Hemiplegia of Childhood: A Case Report with Genetic and Clinical Insights

Case Reports in Neurology
Introduction: Alternating hemiplegia of childhood (AHC) is a complex neurological disorder comprising paroxysmal episodes of repeated, transient paresis involving either or both sides of the body, with onset usually before the age of 18 months.
Samanwita Mahapatra, Abhishek Singh, Aditi Das, Rohit Bhowmick, Niladri Sekhar Bhunia, Subhankar Sarkar, Nupur Bajpai, Rimjhim Sonowal, Atanu Kumar Dutta, Nihar Ranjan Mishra   +9 more
doaj   +1 more source

Neuronal autosis is Na+/K+-ATPase alpha 3-dependent and involved in hypoxic-ischemic neuronal death

Cell Death and Disease
Macroautophagy (hereafter called autophagy) is an essential physiological process of degradation of organelles and long-lived proteins. The discovery of autosis, a Na+/K+-ATPase (ATP1)-dependent type of autophagic cell death with specific morphological ...
Pauline Depierre, Vanessa Ginet, Anita C. Truttmann, Julien Puyal   +3 more
doaj   +1 more source

Clinical and Genetic Spectrum of <i>ATP1A3</i>-Related Disorders: A Multicenter Cross-Sectional Study. [PDF]

Neurol Genet
Rebelo Procaci V, da Hora RPC, Gomes AM, Silva TYT, Embiruçu EK, Silva TO, Van Der Linden V, Estephan EP, Oliveira FN, de Goes FV, de Freitas MR, Horovitz DDG, Domingues JDP, Möller PDDS, Poswar FO, Krueger MB, van der Linden H, Torres BR, Loutfi KS, Kauark RBG, Inuzuka LM, Cabral KSS, Oliveira I, Rocha MSG, Camargos S, Maia DP, Maciel ROH, Cardoso F, da Penha Ananias Morita M, Coelho ÉN, França MC, Lima PLGSB, Pessoa ALS, Barsottini OGP, Nóbrega PR, Pedroso JL, as the ATP1A3 Study Group.   +36 more
europepmc   +1 more source