Miles L - Search Results

1

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder MA, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA. Williams KB, et al. Among authors: miles l. Hum Mol Genet. 2019 Feb 15;28(4):525-538. doi: 10.1093/hmg/ddy344. Hum Mol Genet. 2019. PMID: 30304524 Free PMC article.

2

Non-lethal congenital hypotonia due to glycogen storage disease type IV.

Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT. Burrow TA, et al. Among authors: miles l. Am J Med Genet A. 2006 Apr 15;140(8):878-82. doi: 10.1002/ajmg.a.31166. Am J Med Genet A. 2006. PMID: 16528737

3

Investigation of children for mitochondriopathy confirms need for strict patient selection, improved morphological criteria, and better laboratory methods.

Miles L, Wong BL, Dinopoulos A, Morehart PJ, Hofmann IA, Bove KE. Miles L, et al. Hum Pathol. 2006 Feb;37(2):173-84. doi: 10.1016/j.humpath.2005.10.008. Epub 2005 Dec 20. Hum Pathol. 2006. PMID: 16426917

4

Muscle coenzyme Q: a potential test for mitochondrial activity and redox status.

Miles L, Miles MV, Tang PH, Horn PS, Wong BL, DeGrauw TJ, Morehart PJ, Bove KE. Miles L, et al. Among authors: miles mv. Pediatr Neurol. 2005 May;32(5):318-24. doi: 10.1016/j.pediatrneurol.2005.01.009. Pediatr Neurol. 2005. PMID: 15866432

5

Systematic evaluation of muscle coenzyme Q10 content in children with mitochondrial respiratory chain enzyme deficiencies.

Miles MV, Miles L, Tang PH, Horn PS, Steele PE, DeGrauw AJ, Wong BL, Bove KE. Miles MV, et al. Among authors: miles l. Mitochondrion. 2008 Mar;8(2):170-80. doi: 10.1016/j.mito.2008.01.003. Epub 2008 Feb 2. Mitochondrion. 2008. PMID: 18313367

6

Importance of muscle light microscopic mitochondrial subsarcolemmal aggregates in the diagnosis of respiratory chain deficiency.

Miles L, Miles MV, Horn PS, Degrauw TJ, Wong BL, Bove KE. Miles L, et al. Among authors: miles mv. Hum Pathol. 2012 Aug;43(8):1249-57. doi: 10.1016/j.humpath.2011.09.016. Epub 2012 Jan 25. Hum Pathol. 2012. PMID: 22277918

7

Hepatocyte glycogen accumulation in patients undergoing dietary management of urea cycle defects mimics storage disease.

Miles L, Heubi JE, Bove KE. Miles L, et al. J Pediatr Gastroenterol Nutr. 2005 Apr;40(4):471-6. doi: 10.1097/01.mpg.0000157200.33486.ce. J Pediatr Gastroenterol Nutr. 2005. PMID: 15795597

8

Ubiquinol: a potential biomarker for tissue energy requirements and oxidative stress.

Miles L, Miles MV, Tang PH, Horn PS, Quinlan JG, Wong B, Wenisch A, Bove KE. Miles L, et al. Among authors: miles mv. Clin Chim Acta. 2005 Oct;360(1-2):87-96. doi: 10.1016/j.cccn.2005.04.009. Clin Chim Acta. 2005. PMID: 15935338

9

False negative histochemical reaction for myophosphorylase activity in fulminant sepsis due to methicillin resistant Staphylococcus aureus.

Cristina Pacheco M, Miles L, Bove KE. Cristina Pacheco M, et al. Among authors: miles l. Neuromuscul Disord. 2007 Dec;17(11-12):983-5. doi: 10.1016/j.nmd.2007.07.008. Epub 2007 Aug 24. Neuromuscul Disord. 2007. PMID: 17719780

10

Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature review.

Miles L, DeGrauw TJ, Dinopoulos A, Cecil KM, van der Knaap MS, Bove KE. Miles L, et al. Pediatr Dev Pathol. 2009 May-Jun;12(3):180-6. doi: 10.2350/08-06-0481.1. Pediatr Dev Pathol. 2009. PMID: 18821826

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