Results 241 to 250 of about 9,908,679 (303)

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Anticipatory postural control emerges from a predictive and optimized strategy for movement preparation. [PDF]

Commun Biol
Funato T, Ogawa M, Konosu A, Yanagihara D.   +3 more
europepmc   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Postural control responses during single-leg balance in individuals with chronic ankle instability under graded visual and somatosensory disruption. [PDF]

Front Psychol
Nam SH, Jeong MJ, Kim KJ, Jung HC, Kim KM.   +4 more
europepmc   +1 more source

Assessment of Segmental Postural Control During Reaching in Typically Developing Children Using a Single Inertial Measurement Unit. [PDF]

J Clin Med
Schilling A, Levine D, Richards J.
europepmc   +1 more source

Sex-Specific Differences in Neuromuscular Performance, Joint Mobility, and Postural Control in Elite Karate Athletes. [PDF]

Sensors (Basel)
Molinaro L, Montecchiani M, Rossi S, Taborri J.   +3 more
europepmc   +1 more source