PMC Articles for MedGen (Select 371881) - PMC

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An endothelial growth factor receptor compound mutation of T790M substitution with exon 19 deletion in a previously untreated patient: a case report

Juan C. Falla-Martinez, Daniela Espinosa, Juan C. Baena, Lisa X. Rodriguez, Luz F. Sua, Angela R. Zambrano

J Med Case Rep. 2019; 13: 144. Published online 2019 May 15. doi: 10.1186/s13256-019-2075-y

PMCID:: PMC6518648

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Select item 63915992.

Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease

Peter Rudge, Zane Jaunmuktane, Harpreet Hyare, Matthew Ellis, Martin Koltzenburg, John Collinge, Sebastian Brandner, Simon Mead

Brain. 2019 Mar; 142(3): 760–770. Published online 2019 Jan 28. doi: 10.1093/brain/awy358

Correction in:: Brain. 2019 May; 142(5): e21.

PMCID:: PMC6391599

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Select item 60604263.

Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy

Joana Ribeiro, Olinda Rebelo, Ana Fernández-Marmiesse, Luís Negrão

Acta Myol. 2018 Jun; 37(2): 117–120. Published online 2018 Jun 1.

PMCID:: PMC6060426

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Select item 59955454.

X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon

Camila Nascimento Alves, Tiago Kiyoshi Kitabayashi Braga, Danusa Neves Somensi, Bruno Sérgio Vilhena do Nascimento, José Antônio Santos de Lima, Satomi Fujihara

Einstein (Sao Paulo) 2018; 16(2): eRC4011. Published online 2018 May 25. doi: 10.1590/S1679-45082018RC4011

PMCID:: PMC5995545

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Select item 35439985.

Generation of Mice with a Conditional Allele for the p75NTR Neurotrophin Receptor Gene

Emil Bogenmann, Penny S. Thomas, Qianfeng Li, Jieun Kim, Liang-Tung Yang, Brian Pierchala, Vesa Kaartinen

Genesis. Author manuscript; available in PMC 2013 Jan 14.

Published in final edited form as: Genesis. 2011 Nov; 49(11): 862–869. Published online 2011 Aug 22. doi: 10.1002/dvg.20747

PMCID:: PMC3543998

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Select item 21174036.

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency

J L K Van Hove, J Steyaert, G Matthijs, E Legius, P Theys, R Wevers, A Romstad, L B Møller, K Hedrich, D Goriounov, N Blau, C Klein, P Casaer

J Neurol Neurosurg Psychiatry. 2006 Jan; 77(1): 18–23. doi: 10.1136/jnnp.2004.051664

PMCID:: PMC2117403

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