Results 111 to 120 of about 10,727,728 (294)

Neuropathological investigations of three murine models of Huntington’s disease [PDF]

, 2009
Huntington’s disease (HD) is a purely genetic neurodegenerative disorder affecting approximately 1 in 10,000 people. It is most commonly associated with excessive involuntary movement, or chorea, combined with varying degrees of other motor ...
Raza, A.S.
core  

Crossed cerebellar diaschisis in status epilepticus: A systematic review of the literature

Epileptic Disorders, EarlyView.
Abstract Objective Crossed cerebellar diaschisis is a neuroimaging phenomenon observed in various neurological conditions, including status epilepticus. This systematic review aims to summarize the clinical and radiological characteristics of patients developing crossed cerebellar diaschisis following status epilepticus and to discuss potential ...
Payam Tabaee Damavandi, Pilar Bosque‐Varela, Helena Barbosa Horta Santos, Bassam Al‐Fatly, Lukas Machegger, Eugen Trinka, Giorgi Kuchukhidze   +6 more
wiley   +1 more source

Cloning, expression, and localization of a rat brain high-affinity glycine transporter [PDF]

, 1992
A cDNA clone encoding a glycine transporter has been isolated from rat brain by a combined PCR and plaque-hybridization strategy. mRNA synthesized from this clone (designated GLYT1) directs the expression of sodium-and chloride-dependent, high-affinity ...
Brecha, Nicholas, Davidson, Norman, Guastella, John, Lester, Henry A., Weigmann, Christine   +4 more
core   +1 more source

Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model

Epilepsia, EarlyView.
Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov, Shaked Turk, Yael Sarusi, Marina Brusel, Rotem Ben Tov Perry, Shir Quinn, Yael Almog, Karni Vilian, Mor Yam, Igor Ulitsky, Moran Rubinstein   +10 more
wiley   +1 more source

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? [PDF]

, 2016
Neuronal ceroid lipofuscinoses (NCLs) are a group of incurable lysosomal storage disorders characterized by neurodegeneration and accumulation of lipopigments mainly within the neurons. We studied two littermate Chihuahua dogs presenting with progressive
Alroy, Joseph, Anderson, Glenn W., Bras, Jose, Darwent, Lee, Faller, Kiterie M.E., Guerreiro, Rita J., Gutierrez Quintana, Rodrigo, Kun-Rodrigues, Celia, Mole, Sara E., Penderis, Jacques, Sharpe, Samuel J.   +10 more
core   +2 more sources

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Purkinje cell–specific deficiency in SEL1L-HRD1 endoplasmic reticulum–associated degradation causes progressive cerebellar ataxia in mice

JCI Insight
Recent studies have identified multiple genetic variants of SEL1L-HRD1 endoplasmic reticulum–associated degradation (ERAD) in humans with neurodevelopmental disorders and locomotor dysfunctions, including ataxia.
Mauricio Torres, Brent Pederson, Hui Wang, Liangguang Leo Lin, Huilun Helen Wang, Amara Bugarin-Lapuz, Zhen Zhao, Ling Qi   +7 more
doaj   +1 more source

Biosynthesis and biological action of pineal allopregnanolone

Frontiers in Cellular Neuroscience, 2014
The pineal gland transduces photoperiodic changes to the neuroendocrine system by rhythmic secretion of melatonin. We recently provided new evidence that the pineal gland is a major neurosteroidogenic organ and actively produces a variety of ...
Kazuyoshi eTsutsui, Shogo eHaraguchi
doaj   +1 more source

Cerebellum: an explanation for dystonia? [PDF]

, 2017
Dystonia is a movement disorder that is characterized by involuntary muscle contractions, abnormal movements and postures, as well as by non-motor symptoms, and is due to abnormalities in different brain areas.
Berardelli, Alfredo, Bologna, Matteo
core   +1 more source

Pharmacological effects of gastrodin: Insight into neurological diseases and mechanism in ferroptosis and pyroptosis

Ibrain, Volume 11, Issue 1, Page 74-83, Spring 2025.
Pharmacological effects of gastrodin include prevention and treatment of cognitive decline and reperfusion injuries, anticonvulsion, antiepilepsy, antidepressants, and analgesia, which are related to antiferroptosis and antipyroptosis. Abstract Gastrodin, as an effective monomer of gastrodia elata, plays a significant role in anti‐inflammatory ...
Xue Zheng, Jing Li, Zhao‐Qiong Zhu
wiley   +1 more source