PMC Links for Books (Select 1488526) - PMC

Select item 62818701.

Macrocytic Anemia In Lesch-Nyhan Disease and its Variants

Hasan F. Cakmakli, Rosa J. Torres, Araceli Menendez, Gul Yalcin-Cakmakli, Christopher C. Porter, Juan Garcia Puig, H.A. Jinnah

Genet Med. Author manuscript; available in PMC 2018 Dec 6.

Published in final edited form as: Genet Med. 2019 Feb; 21(2): 353–360. Published online 2018 Jun 6. doi: 10.1038/s41436-018-0053-1

PMCID:: PMC6281870

Abstract Article PDF–551K

Select item 61220482.

Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example

Adam C. Cotton, R. B. Bell, H. A. Jinnah

JIMD Rep. 2018; 41: 25–27. Published online 2017 Dec 15. doi: 10.1007/8904_2017_80

PMCID:: PMC6122048

Abstract Article PDF–125K

Select item 48271473.

Loss of Dopamine Phenotype Among Midbrain Neurons in Lesch–Nyhan Disease

Martin Göttle, Cecilia N. Prudente, Rong Fu, Diane Sutcliffe, Hong Pang, Deborah Cooper, Emir Veledar, Jonathan D. Glass, Marla Gearing, Jasper E. Visser, H. A. Jinnah

Ann Neurol. Author manuscript; available in PMC 2016 Apr 11.

Published in final edited form as: Ann Neurol. 2014 Jul; 76(1): 95–107. Published online 2014 Jun 20. doi: 10.1002/ana.24191

PMCID:: PMC4827147

Abstract Article PDF–705K

Select item 42779214.

Clinical Severity in Lesch-Nyhan Disease: the Role of Residual Enzyme and Compensatory Pathways

Rong Fu, Diane Sutcliffe, Hong Zhao, Xinyi Huang, David J. Schretlen, Steve Benkovic, H. A. Jinnah

Mol Genet Metab. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: Mol Genet Metab. 2015 Jan; 114(1): 55–61. Published online 2014 Nov 8. doi: 10.1016/j.ymgme.2014.11.001

PMCID:: PMC4277921

Abstract Article PDF–458K

Select item 39997115.

Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

Rong Fu, Irene Ceballos-Picot, Rosa J. Torres, Laura E. Larovere, Yasukazu Yamada, Khue V. Nguyen, Madhuri Hegde, Jasper E. Visser, David J. Schretlen, William L. Nyhan, Juan G. Puig, Patrick J. O’Neill, H. A. Jinnah

Brain. 2014 May; 137(5): 1282–1303. Published online 2013 Aug 22. doi: 10.1093/brain/awt202

PMCID:: PMC3999711

Abstract Article PDF–801K

Select item 39325366.

A Cross-Sectional Study of Regional Brain Volume Abnormalities in Lesch-Nyhan Disease and its Variants

David J. Schretlen, Mark Varvaris, Tiffany E. Ho, Tracy D. Vannorsdall, Barry Gordon, James C. Harris, H. A. Jinnah

Lancet Neurol. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Lancet Neurol. 2013 Dec; 12(12): 1151–1158. doi: 10.1016/s1474-4422(13)70238-2

PMCID:: PMC3932536

Abstract Article PDF–4.0M

Select item 38304507.

Phenotypic Variation Among Seven Members of One Family with Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase

Irène Ceballos-Picot, Franck Augé, Rong Fu, Anne Olivier-Bandini, Julie Cahu, Brigitte Chabrol, Bernard Aral, Bérengère de Martinville, Jean-Paul Lecain, H. A. Jinnah

Mol Genet Metab. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Mol Genet Metab. 2013 Nov; 110(3): 10.1016/j.ymgme.2013.08.016. Published online 2013 Sep 8. doi: 10.1016/j.ymgme.2013.08.016

PMCID:: PMC3830450

Abstract Article PDF–1.5M

Select item 35084318.

Delineation of the motor disorder of Lesch–Nyhan disease

H. A. Jinnah, Jasper E. Visser, James C. Harris, Alfonso Verdu, Laura Larovere, Irene Ceballos-Picot, Pedro Gonzalez-Alegre, Vladimir Neychev, Rosa J. Torres, Olivier Dulac, Isabelle Desguerre, David J. Schretlen, Kenneth L. Robey, Gabor Barabas, Bastiaan R. Bloem, William Nyhan, Raquel De Kremer, Gary E. Eddey, Juan G. Puig, Stephen G. Reich

Brain. Author manuscript; available in PMC 2012 Nov 28.

Published in final edited form as: Brain. 2006 May; 129(Pt 5): 1201–1217. Published online 2006 Mar 20. doi: 10.1093/brain/awl056

PMCID:: PMC3508431

Abstract Article PDF–482K

Select item 35074389.

Sudden death in Lesch-Nyhan disease

Vladimir Kostadinov Neychev, H A Jinnah

Dev Med Child Neurol. Author manuscript; available in PMC 2012 Nov 27.

Published in final edited form as: Dev Med Child Neurol. 2006 Nov; 48(11): 923–926. doi: 10.1017/S0012162206002015

PMCID:: PMC3507438

Abstract Article PDF–36K

Select item 303464610.

Mechanisms for phenotypic variation in Lesch–Nyhan disease and its variants

Radhika Sampat, Rong Fu, Laura E. Larovere, Rosa J. Torres, Irene Ceballos-Picot, Michel Fischbach, Raquel de Kremer, David J. Schretlen, Juan Garcia Puig, H. A. Jinnah

Hum Genet. Author manuscript; available in PMC 2012 Jan 1.

Published in final edited form as: Hum Genet. 2011 Jan; 129(1): 71–78. Published online 2010 Oct 28. doi: 10.1007/s00439-010-0901-9

PMCID:: PMC3034646

Abstract Article PDF–355K

Select item 284251411.

Attenuated variants of Lesch-Nyhan disease

H. A. Jinnah, Irene Ceballos-Picot, Rosa J. Torres, Jasper E. Visser, David J. Schretlen, Alfonso Verdu, Laura E. Laróvere, Chung-Jen Chen, Antonello Cossu, Chien-Hui Wu, Radhika Sampat, Shun-Jen Chang, Raquel Dodelson de Kremer, William Nyhan, James C. Harris, Stephen G. Reich, Juan G. Puig

Brain. 2010 Mar; 133(3): 671–689. Published online 2010 Feb 22. doi: 10.1093/brain/awq013

PMCID:: PMC2842514

Abstract Article PDF–449K

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