PMC Articles for MedGen (Select 1840225) - PMC

Select item 56960741.

Defective GABAergic neurotransmission in the nucleus tractus solitarius in Mecp2-null mice, a model of Rett syndrome

Chao-Yin Chen, Jacopo Di Lucente, Yen-Chu Lin, Cheng-Chang Lien, Michael A. Rogawski, Izumi Maezawa, Lee-Way Jin

Neurobiol Dis. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Neurobiol Dis. 2018 Jan; 109(Pt A): 25–32. Published online 2017 Sep 18. doi: 10.1016/j.nbd.2017.09.006

PMCID:: PMC5696074

Abstract Article PDF–570K

Select item 46822322.

MECP2 duplication syndrome in a Chinese family

Qingping Zhang, Ying Zhao, Yanling Yang, Xinhua Bao

BMC Med Genet. 2015; 16: 112. Published online 2015 Dec 16. doi: 10.1186/s12881-015-0264-0

PMCID:: PMC4682232

Abstract Article PDF–1.4M

Select item 45538233.

Fmr1 deficiency promotes age-dependent alterations in the cortical synaptic proteome

Bin Tang, Tingting Wang, Huida Wan, Li Han, Xiaoyan Qin, Yaoyang Zhang, Jian Wang, Chunlei Yu, Fulvia Berton, Walter Francesconi, John R. Yates, III, Peter W. Vanderklish, Lujian Liao

Proc Natl Acad Sci U S A. 2015 Aug 25; 112(34): E4697–E4706. Published online 2015 Aug 11. doi: 10.1073/pnas.1502258112

PMCID:: PMC4553823

Abstract Article PDF–1.5M

Select item 43208264.

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients

Irène Ceballos-Picot, Aurélia Le Dantec, Anaïs Brassier, Jean-Philippe Jaïs, Morgan Ledroit, Julie Cahu, Hang-Korng Ea, Bertrand Daignan-Fornier, Benoît Pinson

Orphanet J Rare Dis. 2015; 10: 7. Published online 2015 Jan 23. doi: 10.1186/s13023-014-0219-0

PMCID:: PMC4320826

Abstract Article PDF–911K

Select item 35528655.

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

David Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, Gajja S Salomons, Karine Mention-Mulliez, Dries Dobbelaere, Jean-Marie Cuisset, Laurence Lion-François, Vincent Des Portes, Allel Chabli, Vassili Valayannopoulos, Jean-François Benoist, Jean-Marc Pinard, Gilles Simard, Olivier Douay, Kumaran Deiva, Alexandra Afenjar, Delphine Héron, François Rivier, Brigitte Chabrol, Fabienne Prieur, François Cartault, Gaëlle Pitelet, Alice Goldenberg, Soumeya Bekri, Marion Gerard, Richard Delorme, Marc Tardieu, Nicole Porchet, Christine Vianey-Saban, Joseph Vamecq

Orphanet J Rare Dis. 2012; 7: 96. Published online 2012 Dec 13. doi: 10.1186/1750-1172-7-96

PMCID:: PMC3552865

Abstract Article PDF–253K

Select item 35064896.

Cul4B regulates neural progenitor cell growth

Helio C Liu, Grigori Enikolopov, Yuzhi Chen

BMC Neurosci. 2012; 13: 112. Published online 2012 Sep 19. doi: 10.1186/1471-2202-13-112

PMCID:: PMC3506489

Abstract Article PDF–2.9M

Select item 33155517.

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

Fernanda dos Santos Pereira, Ursula Matte, Clarissa Troller Habekost, Raphael Machado de Castilhos, Antonette Souto El Husny, Charles Marques Lourenço, Angela M. Vianna-Morgante, Liane Giuliani, Marcial Francis Galera, Rachel Honjo, Chong Ae Kim, Juan Politei, Carmen Regla Vargas, Laura Bannach Jardim

PLoS One. 2012; 7(3): e34195. Published online 2012 Mar 29. doi: 10.1371/journal.pone.0034195

PMCID:: PMC3315551

Abstract Article PDF–548K

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