Detalhe da pesquisa
1.
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.
Hum Mol Genet
; 31(23): 4087-4093, 2022 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35849058
2.
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Genet Med
; 23(7): 1288-1295, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33767344
3.
Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.
BMC Neurol
; 15: 223, 2015 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26517984
4.
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.
Br J Anaesth
; 123(3): e461-e463, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31301762
5.
Genome-Wide Analysis of Exertional Rhabdomyolysis in Sickle Cell Trait Positive African Americans.
Genes (Basel)
; 15(4)2024 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674343
6.
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Am J Hum Genet
; 87(6): 842-7, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21109227
7.
Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.
J Hum Genet
; 58(4): 226-8, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23364397
8.
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.
BMC Neurol
; 13: 29, 2013 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23514108
9.
Case report: Death in the emergency department: an unrecognized awake malignant hyperthermia-like reaction in a six-year-old.
Anesth Analg
; 116(2): 420-3, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23267001
10.
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Anesth Analg
; 116(5): 1078-1086, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23558838
11.
KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase.
Biochem Biophys Res Commun
; 421(4): 743-9, 2012 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22542517
12.
Investigation of the relationship between serum creatine kinase and genetic polymorphisms in military recruits.
Mil Med
; 177(11): 1359-65, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23198514
13.
Optimization of Omega-3 Index Levels in Athletes at the US Naval Academy: Personalized Omega-3 Fatty Acid Dosage and Molecular Genetic Approaches.
Nutrients
; 14(14)2022 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35889922
14.
Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families.
Anesthesiology
; 115(5): 938-45, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21918424
15.
Nemaline myopathy type 6: clinical and myopathological features.
Muscle Nerve
; 42(6): 901-7, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21104864
16.
Trauma, systemic inflammatory response syndrome, dietary supplements, illicit steroid use and a questionable malignant hyperthermia reaction.
Anesth Analg
; 108(3): 900-3, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19224800
17.
Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis.
Mol Genet Metab Rep
; 16: 76-81, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30094188
18.
Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait.
Case Rep Genet
; 2018: 6898546, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30533233
19.
Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.
Brain
; 129(Pt 9): 2318-31, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16702189
20.
Round Table on Malignant Hyperthermia in Physically Active Populations: Meeting Proceedings.
J Athl Train
; 52(4): 377-383, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28430550