Results 151 to 160 of about 381,364 (391)

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson, L. Baxandall, D. Aiyedun, A. Li, P. Y. B. Au, J. M. Bain, M. A. Gillentine, H. Goel, A. D. Kline, C. L. Ricupero, R. Sánchez‐Carpintero, E. P. Seward, R. Sidlow, S. A. Wilson, M. Balasubramanian   +14 more
wiley   +1 more source

Seeing double: the low-carb diet [PDF]

, 2013
No abstract ...
Drummond, Russell S., Drummond, Suzannah, Lean, Michael E.J., McKenna, Louise A., Talwar, Dinesh   +4 more
core   +1 more source

A Novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy [PDF]

, 2013
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In
Alessandra Maresca, Andrea Angius, Andrea Angius, Antonia Parmeggiani, Flavia Palombo, Francesco Cucca, Laura Crisponi, Marco Seri, Maria Lucia Valentino, Rocco Liguori, Tommaso Pippucci, Valerio Carelli   +11 more
core   +3 more sources

Computational modelling of traumatic brain injury predicts the location of chronic traumatic encephalopathy pathology

Brain : a journal of neurology, 2017
Traumatic brain injury can lead to the neurodegenerative disease chronic traumatic encephalopathy. This condition has a clear neuropathological definition but the relationship between the initial head impact and the pattern of progressive brain pathology
M. Ghajari, Peter J Hellyer, D. Sharp
semanticscholar   +1 more source

Hepatic Encephalopathy

Veterinary Clinics of North America: Small Animal Practice, 2017
This article reviews hepatic encephalopathy (HE) in companion animals. Clinical signs and categories of hepatic disease likely to cause HE are discussed. Ammonia has a key role in pathogenesis and current concepts in body ammonia metabolism are reviewed. Inflammation and manganese accumulation are also thought to be important in pathogenesis. Treatment
openaire   +4 more sources

RAPIDLY PROGRESSIVE CEREBRAL DEGENERATION (SUBACUTE VASCULAR ENCEPHALOPATHY) WITH MENTAL DISORDER, FOCAL DISTURBANCES, AND MYOCLONIC EPILEPSY [PDF]

, 1954
D. P. Jones, S. Nevin
openalex   +1 more source

Branched-chain amino acids for people with hepatic encephalopathy.

Cochrane Database of Systematic Reviews, 2017
BACKGROUND Hepatic encephalopathy is a brain dysfunction with neurological and psychiatric changes associated with liver insufficiency or portal-systemic shunting. The severity ranges from minor symptoms to coma. A Cochrane systematic review including 11
L. Gluud, G. Dam, I. Les, G. Marchesini, M. Borre, N. Aagaard, H. Vilstrup   +6 more
semanticscholar   +1 more source

Alzheimer's Association clinical practice guideline for the Diagnostic Evaluation, Testing, Counseling, and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD‐ADRD): Executive summary of recommendations for primary care

Alzheimer's &Dementia, EarlyView.
Abstract US clinical practice guidelines for the diagnostic evaluation of cognitive impairment due to Alzheimer's disease (AD) or AD and related dementias (ADRD) are decades old and aimed at specialists. This evidence‐based guideline was developed to empower all—including primary care—clinicians to implement a structured approach for evaluating a ...
Alireza Atri, Bradford C. Dickerson, Carolyn Clevenger, Jason Karlawish, David Knopman, Pei‐Jung Lin, Mary Norman, Chiadi Onyike, Mary Sano, Susan Scanland, Maria Carrillo   +10 more
wiley   +1 more source

A cancer-associated fibroblasts related risk score (CAFscore) helps to guide prognosis and personal treatment for Glioblastoma

Discover Oncology
Background Recent studies have identified the presence of cancer-associated fibroblasts (CAFs) within glioblastoma (GBM), yet their biological roles and underlying mechanisms remain poorly understood.
Lili Wu, Qinjian Liu, Guoyin Li, Weidong Shi, Weifeng Peng   +4 more
doaj   +1 more source

Quantification of multi-lumen blood vessel pathology in chronic traumatic encephalopathy [PDF]

, 2017
BACKGROUND: Chronic Traumatic Encephalopathy (CTE) is a neurodegenerative disorder that had been largely ignored for decades since its initial characterization in 1928 by Dr. H. Martland. Within the last several years, a dramatic increase of attention in
Dell'Aquila, Kevin
core