Results 151 to 160 of about 42,064 (302)
Psychiatry and Clinical Neurosciences, EarlyView.Next‐generation sequencing has identified risk genes with large effect sizes for autism spectrum disorders (ASD). Although functional analysis of individual risk genes has progressed, the overall picture of ASD pathogenesis is unclear. Therefore, there is a need for morphological profiling of variants in these genes to fully comprehend their ...
Reza K. Arta +4 more
wiley +1 more source
Abnormal Cortical Cells and Astrocytomas in the Eker Rat Model of Tuberous Sclerosis Complex [PDF]
, 2004 Daiki Takahashi +3 more
openalex +1 more source
Pancreatic Neuroendocrine Tumor Leading to a Diagnosis of Multiple Endocrine Neoplasia Type 1
DEN Open, Volume 6, Issue 1, April 2026.ABSTRACT Pancreatic neuroendocrine neoplasms are rare but occasionally encountered. They are generally highly vascularized solid tumors, often round in shape with clear boundaries, defined contours, and a homogeneous internal structure. However, they can also present with atypical features, such as cystic degeneration, hemorrhage, calcification, and ...
Noriyuki Hirakawa +9 more
wiley +1 more source
Sclérose tubéreuse de Bourneville, recensement cantonal [PDF]
, 2015 Contexte : La sclérose tubéreuse de Bourneville (STB) est une maladie génétique dont la majorité des cas est dûe à des mutations de novo. Son incidence est approximativement de 1/6'000 nouveau-nés.
NICOD, O.
core
Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes +6 more
wiley +1 more source
Fundamental &Clinical Pharmacology, Volume 39, Issue 4, August 2025.ABSTRACT Background Seizures after the use of cannabinoids are reported, but no precise descriptions of the characteristics of subjects and factors that may trigger seizures are available. Objectives To study the characteristics and circumstances associated with the occurrence of seizures in individuals using cannabinoids for medical or recreational ...
Marie‐Laure Laroche +4 more
wiley +1 more source
Consistent Localization of Interictal Epileptiform Activity on EEGs of Patients with Tuberous Sclerosis Complex [PDF]
, 2005 Floor E. Jansen +3 more
openalex +1 more source
Interconnections of insulin/IGF‐1 signaling and autophagy abnormalities in Alzheimer's disease
Alzheimer's &Dementia, Volume 21, Issue 7, July 2025.Abstract INTRODUCTION Impaired insulin (INS) and insulin‐like growth factor 1 (IGF‐1) signaling are features of both brain aging and late‐onset Alzheimer's disease (LOAD). However, their exact underlying mechanisms and cause‐and‐effect linkages, including the downstream regulation of endocytosis and autophagy, are still not well understood.
Wang Liao +13 more
wiley +1 more source
FDG‐PET/MRI Coregistration and Diffusion‐Tensor Imaging Distinguish Epileptogenic Tubers and Cortex in Patients with Tuberous Sclerosis Complex: A Preliminary Report [PDF]
, 2006 P. Sarat Chandra +6 more
openalex +1 more source
Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features
Annals of Neurology, Volume 98, Issue 1, Page 35-47, July 2025.Objectives We analyzed the genotypic and phenotypic features of patients with psychosis of epilepsy (POE). Methods Patients with POE recruited to an epilepsy genetics research program underwent phenotyping and genetic analysis. The latter included screening for rare pathogenic variants in epilepsy genes, and polygenic risk score (PRS) calculation for ...
Genevieve Rayner +4 more
wiley +1 more source