Publications:

Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.

Journal Of Neuromuscular Diseases

Lawal, Tokunbor A TA; Patankar, Aneesh A; Todd, Joshua J JJ; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Waite, Melissa R MR; Jain, Minal S MS; Emile-Backer, Magalie M; Witherspoon, Jessica W JW; Liu, Chia-Ying CY; Grunseich, Christopher C; Meilleur, Katherine G KG

Publication Date: 2021

Variant appearance in text: RYR1: 7166_7176del; Asp2389Glyfs

PubMed Link: 33646171

Variant Present in the following documents:

• Main text
• jnd-8-jnd200549.pdf

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Correlation of phenotype with genotype and protein structure in RYR1-related disorders.

Journal Of Neurology

Todd, Joshua J JJ; Sagar, Vatsala V; Lawal, Tokunbor A TA; Allen, Carolyn C; Razaqyar, Muslima S MS; Shelton, Monique S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Cosgrove, Mary M MM; Kuo, Anna A; Vasavada, Ruhi R; Jain, Minal S MS; Waite, Melissa M; Rajapakse, Dinusha D; Witherspoon, Jessica W JW; Wistow, Graeme G; Meilleur, Katherine G KG

Publication Date: 2018-11

Variant appearance in text: RYR1: 7166_7176del

PubMed Link: 30155738

Variant Present in the following documents:

• Main text
• 415_2018_Article_9033.pdf

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Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.

Frontiers In Neurology

Todd, Joshua J JJ; Razaqyar, Muslima S MS; Witherspoon, Jessica W JW; Lawal, Tokunbor A TA; Mankodi, Ami A; Chrismer, Irene C IC; Allen, Carolyn C; Meyer, Mary D MD; Kuo, Anna A; Shelton, Monique S MS; Amburgey, Kim K; Niyazov, Dmitriy D; Fequiere, Pierre P; Bönnemann, Carsten G CG; Dowling, James J JJ; Meilleur, Katherine G KG

Publication Date: 2018

Variant appearance in text: RYR1: 7166_7176del; Asp2389Glyfs*16

PubMed Link: 29556213

Variant Present in the following documents:

• Main text
• fneur-09-00118.pdf

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