Results 191 to 200 of about 122,656 (259)

Brain calcification‐associated JAM2 pathogenic mutations impair JAM2–JAM3 tight junction structure and the blood–brain barrier integrity

open access: yesBrain Pathology, EarlyView.
Pathogenic JAM2 mutations disrupt the JAM2–JAM3 heterodimer structure and tight junction integrity, leading to blood–brain barrier breakdown. Consequently, Jam2‐deficient mice develop prominent midbrain calcification and significant motor impairments, identifying the JAM2–JAM3 interaction as a vital target for primary brain calcification therapeutics ...
Dehao Yang   +24 more
wiley   +1 more source

Molecular profiling of pediatric medulloblastoma in Kazakhstan: Genomic alterations, subgroup distribution, and survival

open access: yesBrain Pathology, EarlyView.
A practical formalin‐fixed, paraffin‐embedded (FFPE)‐based molecular workflow integrating pathology, immunohistochemistry, and genomic profiling provides clinically meaningful subgroup classification of pediatric medulloblastoma and expands molecular evidence from an underrepresented Central Asian population. Abstract Medulloblastoma is the most common
Aidos Bolatov   +9 more
wiley   +1 more source

The Synaptic Vesicle Priming Protein Munc13 Mediates Evoked Somatodendritic Dopamine Release. [PDF]

open access: yesJ Neurosci
Lebowitz JJ   +4 more
europepmc   +1 more source

Neuropathology of a patient with Parkinson's disease and biallelic expansion in RFC1

open access: yesBrain Pathology, EarlyView.
This is the first report of neuropathology in biallelic RFC1 expansion‐associated Parkinson’s disease (PD). It shows a synucleinopathy of intraneuronal Lewy bodies consistent with the clinical PD diagnosis while neuropathological CANVAS (Cerebellar Ataxia with Neuropathy and bilateral Vestibular Areflexia) features were absent.
Jussi Sipilä   +3 more
wiley   +1 more source

Chronic traumatic encephalopathy in a neuropathologically confirmed Creutzfeldt–Jakob disease cohort

open access: yesBrain Pathology, EarlyView.
Systematic neuropathological screening of 212 patients with Creutzfeldt–Jakob disease (55% women) identified chronic traumatic encephalopathy in three cases (1.4%), all men with a history of contact sports. These findings represent the first neuropathologically confirmed chronic traumatic encephalopathy cases reported in Spain.
Lluc Bertran   +13 more
wiley   +1 more source

Novel therapeutic targets for chronic visceral pain in gastrointestinal disorders

open access: yesBritish Journal of Pharmacology, EarlyView.
Chronic visceral pain imposes a major clinical challenge in gastroenterology and beyond, profoundly impacting patients' quality of life. However, limited understanding of its complex, multifaceted pathophysiology, encompassing both peripheral and central mechanisms, continues to impede the development of effective management strategies.
Fleur Veldman   +3 more
wiley   +1 more source

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