PMC Articles for MedGen (Select 357379) - PMC

Select item 58415641.

A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia

Imran H. Yusuf, Morag E Shanks, Penny Clouston, Robert E. MacLaren

Ophthalmic Genet. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Ophthalmic Genet. 2018 Apr; 39(2): 263–267. Published online 2017 Dec 1. doi: 10.1080/13816810.2017.1408848

PMCID:: PMC5841564

Article PDF–765K

Select item 29789592.

Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

Anjali M. Rajadhyaksha, Olivier Elemento, Erik G. Puffenberger, Kathryn C. Schierberl, Jenny Z. Xiang, Maria L. Putorti, José Berciano, Chantal Poulin, Bernard Brais, Michel Michaelides, Richard G. Weleber, Joseph J. Higgins

Am J Hum Genet. 2010 Nov 12; 87(5): 643–654. doi: 10.1016/j.ajhg.2010.10.013

PMCID:: PMC2978959

Article PDF–1.3M

Select item 73125683.

Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis

Deborah Chiabrando, Francesca Bertino, Emanuela Tolosano

Int J Mol Sci. 2020 Jun; 21(11): 3760. Published online 2020 May 26. doi: 10.3390/ijms21113760

PMCID:: PMC7312568

Article PDF–1.2M

Select item 51400524.

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception

Deborah Chiabrando, Marco Castori, Maja di Rocco, Martin Ungelenk, Sebastian Gießelmann, Matteo Di Capua, Annalisa Madeo, Paola Grammatico, Sophie Bartsch, Christian A. Hübner, Fiorella Altruda, Lorenzo Silengo, Emanuela Tolosano, Ingo Kurth

PLoS Genet. 2016 Dec; 12(12): e1006461. Published online 2016 Dec 6. doi: 10.1371/journal.pgen.1006461

PMCID:: PMC5140052

Article PDF–1.7M

Select item 36027935.

Heme and FLVCR-related transporter families SLC48 and SLC49

Anwar A. Khan, John G. Quigley

Mol Aspects Med. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Mol Aspects Med. 2013 Apr; 34(2-3): 669–682. doi: 10.1016/j.mam.2012.07.013

PMCID:: PMC3602793

Article PDF–972K

Select item 63165366.

Potential Treatment of Retinal Diseases with Iron Chelators

Wanting Shu, Joshua L. Dunaief

Pharmaceuticals (Basel) 2018 Dec; 11(4): 112. Published online 2018 Oct 22. doi: 10.3390/ph11040112

PMCID:: PMC6316536

Article PDF–648K

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