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Sarah Macklin Selected Research

Malignant hyperthermia susceptibility type 1

5/2017Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

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Sarah Macklin Research Topics

Disease

2Neoplasms (Cancer)
11/2019 - 10/2017
1Breast Neoplasms (Breast Cancer)
11/2019
1Hereditary Neoplastic Syndromes (Cancer Syndrome, Hereditary)
01/2018
1Genomic Instability
10/2017
1Malignant hyperthermia susceptibility type 1
05/2017
1Minicore Myopathy with External Ophthalmoplegia
05/2017
1Muscular Diseases (Myopathy)
05/2017
1Mitochondrial Myopathies (Mitochondrial Myopathy)
05/2017
1Central Core Myopathy (Central Core Disease)
05/2017
1Congenital Structural Myopathies (Centronuclear Myopathy)
05/2017
1Maple Syrup Urine Disease
01/2017
1Mitochondrial Diseases (Mitochondrial Disease)
12/2016
1Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
12/2016
1Stroke (Strokes)
12/2016
1MELAS Syndrome (Syndrome, MELAS)
12/2016

Drug/Important Bio-Agent (IBA)

3Proteins (Proteins, Gene)FDA Link
11/2019 - 10/2017
1DNA (Deoxyribonucleic Acid)IBA
10/2017
1Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
05/2017
1Isoleucine (L-Isoleucine)FDA Link
01/2017
1Oxidoreductases (Dehydrogenase)IBA
01/2017
1Branched-Chain Amino AcidsIBA
01/2017
1Mitochondrial DNA (mtDNA)IBA
12/2016
1Lactic Acid (Lactate)FDA LinkGeneric
12/2016