Results 211 to 220 of about 483,719 (279)

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

Functional significance of NLRP3 polymorphisms in mild cognitive impairment. [PDF]

BMC Geriatr
Gao R, Lam LCW, Lee ATC, Tang NLS, Ma SL.   +4 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

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

Diagnosis and management of subjects with mild cognitive impairment in clinical practice: an Italian delphi consensus study. [PDF]

Neurol Sci
Rainero I, Caggia E, Brancasi B, Carrarini C, Giuffrè GM, Farina E, Fabbo A, Giubilei F, Bonanni L, Monastero R, Paoli C, Cagnin A.   +11 more
europepmc   +1 more source

Supported Decision‐Making Rights in Behaviour Support Policies

Australian Journal of Social Issues, EarlyView.
ABSTRACT Disability policy emphasises that people with disability have the right to exercise their will and preferences in their lives, and decision‐making support must be provided to realise this right if they request. One context in which people's will and preferences are often restricted is behaviour support.
Sally Robinson, Karen R. Fisher, Julian Laurens, Alinka Fisher, Sabrina Forte, Katrina Reschke, Rosemary Kayess   +6 more
wiley   +1 more source

Pupil dilation as a marker of attention/effort in aging and mild cognitive impairment. [PDF]

Alzheimers Dement
Zhunussova A, Loane C, Kurt E, Femminella GD, Lenzoni S, Duckett M, Callaghan MF, Weiskopf N, Dolan RJ, Howard R, Düzel E, Hämmerer D.   +11 more
europepmc   +1 more source

Disease Remission: A Scoping Review With Thematic Analysis of the Scientific Literature With Implications for Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Remission, a term used to describe a goal of treatment for some chronic diseases, has recently been proposed for chronic rhinosinusitis (CRS). However, it is unclear what remission means for CRS and why it should serve as a goal in the present‐day treatment of CRS.
Nikhil Parail, Lynn Warner, Stacey T. Gray, Claire Hopkins, Peter H. Hwang, Sarah K. Wise, Katie M. Phillips, Ahmad R. Sedaghat   +7 more
wiley   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source