Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI
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Title
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI
Authors
Keywords
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Journal
Journal of Neuromuscular Diseases
Volume 8, Issue 4, Pages 657-668
Publisher
IOS Press
Online
2021-02-27
DOI
10.3233/jnd-200549
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- (2019) Uros Klickovic et al. NEUROLOGY
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- (2018) Mickael Tordjman et al. EUROPEAN RADIOLOGY
- Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings
- (2018) Joshua J. Todd et al. Frontiers in Neurology
- Correlation of phenotype with genotype and protein structure in RYR1-related disorders
- (2018) Joshua J. Todd et al. JOURNAL OF NEUROLOGY
- A Semi-automated Approach to Improve the Efficiency of Medical Imaging Segmentation for Haptic Rendering
- (2017) Pat Banerjee et al. JOURNAL OF DIGITAL IMAGING
- Three-dimensional comparison of intramuscular fat content between young and old adults
- (2017) Akito Yoshiko et al. BMC MEDICAL IMAGING
- Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1
- (2017) Patrick R. Blackburn et al. Molecular Genetics & Genomic Medicine
- Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort
- (2016) Rebecca J. Willcocks et al. ANNALS OF NEUROLOGY
- Recent developments in muscle imaging of neuromuscular disorders
- (2016) Dirk Fischer et al. CURRENT OPINION IN NEUROLOGY
- Muscle function and fat content in relation to sarcopenia, obesity and frailty of old age — An overview
- (2016) Assaf Buch et al. EXPERIMENTAL GERONTOLOGY
- Muscle magnetic resonance imaging in congenital myasthenic syndromes
- (2016) Sarah Finlayson et al. MUSCLE & NERVE
- RYR1-related myopathies: a wide spectrum of phenotypes throughout life
- (2015) M. Snoeck et al. EUROPEAN JOURNAL OF NEUROLOGY
- Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy
- (2015) N. Kraeva et al. NEUROMUSCULAR DISORDERS
- Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies
- (2015) Katherine G. Meilleur et al. NEUROMUSCULAR DISORDERS
- A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing
- (2015) Yi Dai et al. NEUROMUSCULAR DISORDERS
- Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
- (2015) Emily J. Todd et al. Orphanet Journal of Rare Diseases
- RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine
- (2014) M.A. Illingworth et al. NEUROMUSCULAR DISORDERS
- Ryanodine Receptor Type 1 Gene Variants in the Malignant Hyperthermia-Susceptible Population of the United States
- (2013) Barbara W. Brandom et al. ANESTHESIA AND ANALGESIA
- KV10.1 K+-channel plasma membrane discrete domain partitioning and its functional correlation in neurons
- (2013) Aura M. Jiménez-Garduño et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
- Magnetic resonance imaging in duchenne muscular dystrophy: Longitudinal assessment of natural history over 18 months
- (2013) Kieren G. Hollingsworth et al. MUSCLE & NERVE
- Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum
- (2013) D. X. Bharucha-Goebel et al. NEUROLOGY
- Genotype-phenotype correlations in recessive RYR1-related myopathies
- (2013) Kimberly Amburgey et al. Orphanet Journal of Rare Diseases
- Death in the Emergency Department
- (2012) Wendy A. Lavezzi et al. ANESTHESIA AND ANALGESIA
- Whole body muscle MRI protocol: Pattern recognition in early onset NM disorders
- (2012) Susana Quijano-Roy et al. NEUROMUSCULAR DISORDERS
- Muscle Magnetic Resonance Imaging in Congenital Myopathies Due to Ryanodine Receptor Type 1 Gene Mutations
- (2011) Andrea Klein ARCHIVES OF NEUROLOGY
- RYR1 mutations are a common cause of congenital myopathies with central nuclei
- (2010) J.M. Wilmshurst et al. ANNALS OF NEUROLOGY
- Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families
- (2010) A Tammaro et al. CLINICAL GENETICS
- Neuromuscular imaging in inherited muscle diseases
- (2010) Mike P. Wattjes et al. EUROPEAN RADIOLOGY
- Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization
- (2010) J. A. Bevilacqua et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
- Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes
- (2009) Alberto Zullo et al. HUMAN MUTATION
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