Results 291 to 300 of about 239,204 (360)
The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst +4 more
wiley +1 more source
A comparative meta-analysis of seven types of exercise-based physical therapy for gait stabilization, fall risk, and postural control in Parkinson's disease patients. [PDF]
Tong G, Ouyang J, Xia Y, Cai X.
europepmc +1 more source
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 +9 more
wiley +1 more source
Sex Differences in Foot Arch Structure Affect Postural Control and Energy Flow During Dynamic Tasks. [PDF]
Liu X, Zhou S, Pan Y, Li L, Liu Y.
europepmc +1 more source
Low to moderate relationships between gait and postural responses in Parkinson disease [PDF]
Duncan, Ryan P +4 more
core +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
AI-Assisted Dynamic Postural Control Screening to Improve Functional Mobility in Older Adult Populations: Quasi-Experimental Study. [PDF]
Lin KC, Wai RJ, Chang Chien HY.
europepmc +1 more source

