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Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.
J Cachexia Sarcopenia Muscle. 2023 Dec;14(6):2882-2897. doi: 10.1002/jcsm.13349. Epub 2023 Nov 15.
J Cachexia Sarcopenia Muscle. 2023.
PMID: 37964752
Free PMC article.
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.
Royer-Bertrand B, Tsouni P, Mullen P, Campos Xavier B, Mittaz Crettol L, Lobrinus AJ, Ghika J, Baumgartner MR, Rivolta C, Superti-Furga A, Kuntzer T, Francklyn C, Tran C.
Royer-Bertrand B, et al. Among authors: lobrinus aj.
Ann Clin Transl Neurol. 2019 May 24;6(6):1072-1080. doi: 10.1002/acn3.791. eCollection 2019 Jun.
Ann Clin Transl Neurol. 2019.
PMID: 31211171
Free PMC article.
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One case, 3 rare simultaneous findings: intramyocardial bronchogenic cyst, P.H558R variant of SCN5A gene, and granular cell tumor of the esophagus.
Shiferaw K, Lobrinus AJ, Grabherr S, Michaud K, Mangin P, Schrag B.
Shiferaw K, et al. Among authors: lobrinus aj.
Am J Forensic Med Pathol. 2012 Dec;33(4):335-8. doi: 10.1097/PAF.0b013e318264e9ef.
Am J Forensic Med Pathol. 2012.
PMID: 22835975
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