Results 181 to 190 of about 552,457 (237)

High‑fat diet and cognitive dysfunction: Mechanistic insights into diet‑induced neurodegeneration (Review). [PDF]

Int J Mol Med
You M, Wu F, Xiong F, Hu XF, Wu H, Zhou L, Zhang HX.   +6 more
europepmc   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Cognitive dysfunction in schizophrenia: association with peripheral blood inflammatory signatures. [PDF]

BMC Psychiatry
Luan P, Wang Q, Sun Y, Jiang C, Yin J, Wang J.   +5 more
europepmc   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Case Report: Distinctive features of cognitive dysfunction and amelioration by antiseizure medication in neuronal intranuclear inclusion disease. [PDF]

Front Neurosci
Ohara H, Yamanaka M, Okada F, Okazaki A, Dizon MD, Elangovan A, Babu HWS, Iyer M, Vellingiri B, Kinoshita M.   +9 more
europepmc   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Mesenchymal Stem Cell Therapy Modulates Peripheral-Central Immune Interactions and Attenuates Neuroinflammation-Driven Cognitive Dysfunction. [PDF]

Int J Mol Sci
Ayyubova G, Huseynova S, Mustafayeva N, Yildirim L, Ismayilova S, Gasimova T, Aliyeva S.   +6 more
europepmc   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Cognitive Dysfunction in Fibromyalgia: Prevalence and Independent Predictors-A Case-Control Study Using the Montreal Cognitive Assessment Scale. [PDF]

Brain Sci
Azevedo SF, Genrinho I, Saldanha J, Cunha I.   +3 more
europepmc   +1 more source