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Items: 4

Select item 78187791.

Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report

Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Giglio

BMC Med Genomics. 2021; 14: 25. Published online 2021 Jan 21. doi: 10.1186/s12920-020-00863-1

PMCID:: PMC7818779

Abstract Article PDF–1.2M

Select item 58733862.

The role of tRNA synthetases in neurological and neuromuscular disorders

Veronika Boczonadi, Matthew J. Jennings, Rita Horvath

FEBS Lett. 2018 Mar; 592(5): 703–717. Published online 2018 Feb 1. doi: 10.1002/1873-3468.12962

PMCID:: PMC5873386

Abstract Article PDF–366K

Select item 55625603.

Intermediate Charcot-Marie-Tooth disease

Lei Liu, Ruxu Zhang

Neurosci Bull. 2014 Dec; 30(6): 999–1009. Published online 2014 Oct 17. doi: 10.1007/s12264-014-1475-7

PMCID:: PMC5562560

Abstract Article PDF–394K

Select item 29488044.

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

Heather M. McLaughlin, Reiko Sakaguchi, Cuiping Liu, Takao Igarashi, Davut Pehlivan, Kristine Chu, Ram Iyer, Pedro Cruz, Praveen F. Cherukuri, Nancy F. Hansen, James C. Mullikin, NISC Comparative Sequencing Program, Leslie G. Biesecker, Thomas E. Wilson, Victor Ionasescu, Garth Nicholson, Charles Searby, Kevin Talbot, Jeffrey M. Vance, Stephan Züchner, Kinga Szigeti, James R. Lupski, Ya-Ming Hou, Eric D. Green, Anthony Antonellis

Am J Hum Genet. 2010 Oct 8; 87(4): 560–566. doi: 10.1016/j.ajhg.2010.09.008