Results 241 to 250 of about 148,278 (306)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Event-related potentials following contraction of respiratory muscles in pre-term and full-term infants.

Clin Neurophysiol, 2019
Whitehead K, Jones L, Laudiano-Dray MP, Meek J, Fabrizi L.   +4 more
europepmc   +1 more source

The impact of swimming speed on respiratory muscle fatigue during front crawl swimming: a role for critical velocity?

, 2013
Costa, A., Iggleden, Colin, Thomaidis, S., Toubekis, A., Lomax, Mitch, Tiligadas, G., Oliveira, R., Tokmakidis, S.   +7 more
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The Respiratory Muscles

New England Journal of Medicine, 1982
THE respiratory system consists essentially of two parts: a gas-exchanging organ — the lungs—and a pump that ventilates the lungs.
Charis Roussos, Peter T Macklem, Macklem Peter T   +2 more
exaly   +3 more sources

Imaging of respiratory muscles in neuromuscular disease: A review

Neuromuscular Disorders, 2018
Respiratory muscle weakness frequently occurs in patients with neuromuscular disease. Measuring respiratory function with standard pulmonary function tests provides information about the contribution of all respiratory muscles, the lungs and airways ...
Ans T Van Der Ploeg, E Brusse, Marleen de Bruijne   +2 more
exaly   +3 more sources

Respiratory Muscle Fatigue

Annals of Internal Medicine, 1988
Excerpt To the Editor:Murciano and colleagues (1) showed that tracheal occlusion pressure (P0.1) provided a better predictive index for successful extubation than classic weaning criteria in patien...
M A, Sackner, B P, Krieger
openaire   +4 more sources

The Respiratory Muscles

Clinical Science, 1985
The respiratory muscles provide the motive power for breathing. Despite this central role in ventilation their physiology has been relatively neglected, perhaps partly because of the complexity of their function, and the difficulties of studying them.
M, Green, J, Moxham
openaire   +3 more sources

Activation of respiratory muscles during respiratory muscle training

European Respiratory Journal, 2013
Introduction Respiratory muscle training (RMT) is applied by athletes and in patients with respiratory muscle dysfunction. Yet it is unknown which respiratory muscle groups are mainly activated by RMT.
Stephan Walterspacher, Fabian Pietsch, David Johannes Walker, Kai Röcker, Hans-Joachim Kabitz   +4 more
openaire   +3 more sources