Results 111 to 120 of about 4,441,106 (313)

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Non-canonical type 1 cannabinoid receptor signaling regulates night visual processing in the inner rat retina

iScience
Summary: Type 1 cannabinoid receptors (CB1Rs) are expressed in major retinal neurons within the rod-pathway suggesting a role in regulating night visual processing, but the underlying mechanisms remain poorly understood.
Sebastián F. Estay, Camila Morales-Moraga, Alex H. Vielma, Angelina Palacios-Muñoz, Chiayu Q. Chiu, Andrés E. Chávez   +5 more
doaj   +1 more source

Human neuronal stargazin-like proteins, gamma(2), gamma(3) and gamma(4); an investigation of their specific localization in human brain and their influence on Ca(V)2.1 voltage-dependent calcium channels expressed in Xenopus oocytes [PDF]

, 2003
Background: Stargazin (gamma(2)) and the closely related gamma(3), and gamma(4) transmembrane proteins are part of a family of proteins that may act as both neuronal voltage-dependent calcium channel (VDCC) gamma subunits and transmembrane alpha-amino-3 ...
Clare, JJ, Dolphin, AC, Moss, FJ
core  

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin, Sang Bin Hong, Yong Woo Shin, Inpyeong Hwang, Jaeseong Oh, Jihyeon Choi, Narae Kim, Jangsup Moon, Keun‐Hwa Jung, Kyung‐Il Park, Ki‐Young Jung, Kon Chu, Sang Kun Lee   +12 more
wiley   +1 more source

Episodic rhythmicity is generated by a distributed neural network in the developing mammalian spinal cord

iScience
Summary: Spinal circuits generate locomotor rhythms, but the mechanisms behind episodic locomotor behaviors remain unclear. This study investigated dopamine-induced episodic rhythms in isolated neonatal mouse spinal cords to understand these mechanisms ...
Jonathan J. Milla-Cruz, Adam P. Lognon, Michelle A. Tran, Stephanie A. Di Vito, Carlotta Löer, Anchita Shonak, Matthew J. Broadhead, Gareth B. Miles, Simon A. Sharples, Patrick J. Whelan   +9 more
doaj   +1 more source

The evolution and comparative neurobiology of endocannabinoid signalling [PDF]

, 2012
CB(1)- and CB(2)-type cannabinoid receptors mediate effects of the endocannabinoids 2-arachidonoylglycerol (2-AG) and anandamide in mammals. In canonical endocannabinoid-mediated synaptic plasticity, 2-AG is generated postsynaptically by diacylglycerol ...
Devane W. A., Maurice R. Elphick, Montell C., Soderstrom K., Soderstrom K.   +4 more
core   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Reiterated male-to-female violence disrupts hippocampal estrogen receptor β expression, prompting anxiety-like behavior

iScience
Summary: Intimate partner violence (IPV) is a significant public health concern whose neurological/behavioral sequelae remain to be mechanistically explained.
Jacopo Agrimi, Lucia Bernardele, Naeem Sbaiti, Marco Brondi, Donato D’Angelo, Marta Canato, Ivan Marchionni, Christian U. Oeing, Giussy Barbara, Beatrice Vignoli, Marco Canossa, Nina Kaludercic, Gaya Spolverato, Anna Raffaello, Claudia Lodovichi, Marco Dal Maschio, Nazareno Paolocci   +16 more
doaj   +1 more source

Strengths and weakness of neuroscientific investigations of childhood poverty: Future directions [PDF]

, 2015
The neuroscientific study of child poverty is a topic that has only recently emerged. In comparison with previous reviews (e.g., Hackman and Farah, 2009; Lipina and Colombo, 2009; Hackman et al., 2010; Raizada and Kishiyama, 2010; Lipina and Posner, 2012)
Lipina, Sebastián Javier, Segretin, María Soledad   +1 more
core   +2 more sources

Annual 12‐Week Dosing Gap of Natalizumab: Clinical Efficacy, Blood Biomarkers, and CSF Cell Composition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Natalizumab (NTZ) is a highly effective therapy for multiple sclerosis (MS); however, its use is limited by the risk of a rare potentially severe opportunistic brain infection, progressive multifocal leukoencephalopathy (PML). Alternative dosing strategies are evaluated to reduce PML risk while still maintaining efficacy, which ...
Regina Berkovich, Tilman Schneider‐Hohendorf, Eric Baetscher, Evan L. Riddle, Marie Deffner, Emily Katsnelson, Janine Ferrant‐Orgettas, Julie Czerkowicz, John Anderson, Susan E. Goelz, Nicholas Schwab   +10 more
wiley   +1 more source