Research graph
References from Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy—a case of severe neonatal presentation due to a de novo variant of uncertain significance. Local targets link to admitted publications; unresolved targets remain external evidence.
Ryanodine receptor 1-related myopathies: diagnostic and therapeutic approaches
10.1007/s13311-018-00677-1 · 2018 · External reference
Long-term natural history of pediatric dominant and recessive RYR1-related myopathy
10.1212/wnl.0000000000207723 · 2023 · External reference
Genbank
10.1093/nar/gkv1276 · 2016 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
Ryanodine receptors: structure, expression, molecular details, and function in calcium release
10.1101/cshperspect.a003996 · 2010 · External reference
Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases
10.1093/bja/aep061 · 2009 · External reference
Ryanodine receptors: structure and function
10.1074/jbc.r112.349068 · 2012 · External reference
Successful correction by prime editing of a mutation in the RYR1 gene responsible for a myopathy
10.3390/cells13010031 · 2023 · External reference
Correlation of phenotype–genotype and protein structure in RYR1-related myopathy
10.3389/fneur.2022.870285 · 2022 · External reference
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation
10.1007/s00401-012-1007-3 · 2012 · External reference
Congenital myopathies: natural history of a large pediatric cohort
10.1212/wnl.0000000000001110 · 2015 · External reference
Bone quality in patients with a congenital myopathy: a scoping review
10.3233/jnd-221543 · 2023 · External reference
First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia
10.1016/j.nmd.2009.07.007 · 2009 · External reference
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization
10.1111/j.1365-2990.2010.01149.x · 2011 · External reference
Severe congenital RYR1-associated myopathy
10.1212/wnl.0b013e3182900380 · 2013 · External reference
A rare case of severe congenital RYR1-associated myopathy
10.1155/2018/6184185 · 2018 · External reference
Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report
10.1186/s13052-019-0756-1 · 2019 · External reference
Recessive RYR1-related centronuclear myopathy with congenital chylothorax in a Japanese male child: a case report
10.1097/md9.0000000000000190 · 2021 · External reference
Early findings in neonatal cases of RYR1–related congenital myopathies
10.3389/fneur.2021.664618 · 2021 · External reference
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
10.1186/s40478-021-01254-y · 2021 · External reference
Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries
10.1002/mgg3.1804 · 2021 · External reference
A novel RYR1 variant in an infant with a unique fetal presentation of central core disease
10.1002/ajmg.a.63188 · 2023 · External reference
Congenital myopathy-1B due to RYR 1 gene mutation in three Libyan families
10.1055/s-0043-1778047 · 2024 · External reference
Compound heterozygous RYR1 variants in a patient with severe congenital myopathy: case report and comparison with additional cases of recessive RYR1-related myopathy
10.3390/ijms251910867 · 2024 · External reference
Congenital myopathy due to RYR1 gene mutation in a newborn masquerading as a consequence of hypoxic-ischemic encephalopathy
10.4103/ipcares.ipcares_41_24 · 2024 · External reference
Severe neonatal RYR1 myopathy with pathological features of congenital muscular dystrophy
10.1093/jnen/nlz004 · 2019 · External reference
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies
10.1093/brain/awm096 · 2007 · External reference
Therapeutic hypothermia for neonatal hypoxic-ischemic encephalopathy: clinical report
10.1542/peds.2025-073627 · 2026 · External reference
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus
10.1016/j.nmd.2006.11.002 · 2007 · External reference
The influence of late prematurity on the encephalopathy exam of infants with neonatal encephalopathy
10.3233/npm-230041 · 2023 · External reference
Brain injury patterns and short-term outcomes in late preterm infants treated with hypothermia for hypoxic ischemic encephalopathy
10.3390/children12081012 · 2025 · External reference
Punctate white matter abnormality in moderate-to-late preterm infants
10.1002/ana.27261 · 2025 · External reference
Extra-axial cerebrospinal fluid spaces in children with benign external hydrocephalus: a case-control study
10.1177/1971400917719298 · 2017 · External reference
Therapeutic hypothermia in neonatal hypoxic ischemic encephalopathy: electrographic seizures and magnetic resonance imaging evidence of injury
10.1016/j.jpeds.2013.01.041 · 2013 · External reference
Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event
10.1016/j.braindev.2014.04.002 · 2015 · External reference
Therapeutic hypothermia in preterm infants under 36 weeks: case series on outcomes and brain MRI findings
10.1007/s00431-024-05948-y · 2025 · External reference
Benefits and risks of therapeutic hypothermia for hypoxic-ischemic encephalopathy in late preterm infants
10.1038/s41390-025-04428-9 · 2025 · External reference
Outcome after therapeutic hypothermia in term neonates with encephalopathy and a syndromic diagnosis
10.1177/0883073815569307 · 2015 · External reference
To do or not to do: therapeutic hypothermia treatment for an infant with HIE and prenatal spinal muscular atrophy with congenital bone fractures
10.34763/jmotherandchild.20263001.d-25-00033 · 2026 · External reference
