Results 41 to 50 of about 91,745 (210)

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

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

Decoding state-dependent cortical-cerebellar cellular functional connectivity in the mouse brain

Cell Reports
Summary: The cortex and cerebellum form multi-synaptic reciprocal connections. We investigate the functional connectivity between single spiking cerebellar neurons and the population activity of the mouse dorsal cortex using mesoscale imaging.
Yuhao Yan, Timothy H. Murphy
doaj   +1 more source

Comparative neuronal morphology of the cerebellar cortex in afrotherians, carnivores, cetartiodactyls, and primates

Frontiers in Neuroanatomy, 2014
Although the basic morphological characteristics of neurons in the cerebellar cortex have been documented in several species, virtually nothing is known about the quantitative morphological characteristics of these neurons across different taxa.
Bob eJacobs, Nicholas eJohnson, Devin eWahl, Matthew eSchall, Busisiwe C. Maseko, Albert eLewandowski, Mary Ann eRaghanti, Bridget eWicinski, Bridget eWicinski, Camilla eButti, Camilla eButti, William eHopkins, Mads F. Bertelsen, Timothy eWalsh, John R Roberts, Roger eReep, Patrick R Hof, Patrick R Hof, Chet C Sherwood, Paul eManger   +19 more
doaj   +1 more source

Structural reorganization of the cerebral cortex after vestibulo-cerebellar stroke

NeuroImage: Clinical, 2021
Objective: Structural reorganization following cerebellar infarcts is not yet known. This study aimed to demonstrate structural volumetric changes over time in the cortical vestibular and multisensory areas (i.e., brain plasticity) after acute cerebellar
Julian Conrad, Maximilian Habs, Maxine Ruehl, Rainer Boegle, Matthias Ertl, Valerie Kirsch, Ozan Eren, Sandra Becker-Bense, Thomas Stephan, Frank Wollenweber, Marco Duering, Marianne Dieterich, Peter zu Eulenburg   +12 more
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Dynamic neuronal activity of cerebellar cortex during trace eyeblink conditioning in mice

Di-san junyi daxue xuebao, 2020
Objective To investigate the dynamic changes of neuronal activity in the cerebellar cortex during the acquisition of trace eyeblink conditioning (tEBC) in mice.
ZHANG Libin, CHEN Hao, ZHANG Jie, ZHOU An, WU Yamin, YAN Jie   +5 more
doaj   +1 more source

Acute Cerebellar Inflammation and Related Ataxia: Mechanisms and Pathophysiology

Brain Sciences, 2022
The cerebellum governs motor coordination and motor learning. Infection with external microorganisms, such as viruses, bacteria, and fungi, induces the release and production of inflammatory mediators, which drive acute cerebellar inflammation.
Md. Sorwer Alam Parvez, Gen Ohtsuki
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Filgrastim Protects the Cerebellar Cortex Against TNF-α/Bax Enhanced Apoptosis After Aluminum Toxicity in Albino Rats. Histological and Immunohistochemical Study [PDF]

The Egyptian Journal of Histology
Introduction: Aluminum (Al) is a strong toxicant affecting the brain neurons. Filgrastim can be a promising protective drug.Aim of the Work: Evaluation of the neuro-alleviating role of Filgrastim on the Aluminum-induced neuronal toxicity in the ...
Heba Bayoumi, Mona Mohamed, Hala Shalan, Ebtssam Beder, Enas Elgendy   +4 more
doaj   +1 more source