PMC Articles for MedGen (Select 1385608) - PMC

Select item 65574381.

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination

Lance H. Rodan, Wanshu Qi, Gregory S. Ducker, Didem Demirbas, Regina Laine, Edward Yang, Melissa A. Walker, Florian Eichler, Joshua D. Rabinowitz, Irina Anselm, Gerard T. Berry

Mol Genet Metab. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Mol Genet Metab. 2018 Sep; 125(1-2): 118–126. Published online 2018 Jun 15. doi: 10.1016/j.ymgme.2018.06.006

PMCID:: PMC6557438

Abstract Article PDF–1.3M

Select item 61179592.

Analysis of cerebrospinal fluid metabolites in patients with primary or metastatic central nervous system tumors

Leomar Y. Ballester, Guangrong Lu, Soheil Zorofchian, Venkatrao Vantaku, Vasanta Putluri, Yuanqing Yan, Octavio Arevalo, Ping Zhu, Roy F. Riascos, Arun Sreekumar, Yoshua Esquenazi, Nagireddy Putluri, Jay-Jiguang Zhu

Acta Neuropathol Commun. 2018; 6: 85. Published online 2018 Aug 31. doi: 10.1186/s40478-018-0588-z

PMCID:: PMC6117959

Abstract Article PDF–2.6M

Select item 50656533.

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Laura S. Kremer, Katharina Danhauser, Diran Herebian, Danijela Petkovic Ramadža, Dorota Piekutowska-Abramczuk, Annette Seibt, Wolfgang Müller-Felber, Tobias B. Haack, Rafał Płoski, Klaus Lohmeier, Dominik Schneider, Dirk Klee, Dariusz Rokicki, Ertan Mayatepek, Tim M. Strom, Thomas Meitinger, Thomas Klopstock, Ewa Pronicka, Johannes A. Mayr, Ivo Baric, Felix Distelmaier, Holger Prokisch

Am J Hum Genet. 2016 Oct 6; 99(4): 894–902. Published online 2016 Sep 8. doi: 10.1016/j.ajhg.2016.07.018

PMCID:: PMC5065653

Abstract Article PDF–1.5M

Select item 48622474.

Myo-inositol changes precede amyloid pathology and relate to APOE genotype in Alzheimer disease

Olga Voevodskaya, Pia C. Sundgren, Olof Strandberg, Henrik Zetterberg, Lennart Minthon, Kaj Blennow, Lars-Olof Wahlund, Eric Westman, Oskar Hansson, For the Swedish BioFINDER study group

Neurology. 2016 May 10; 86(19): 1754–1761. doi: 10.1212/WNL.0000000000002672

PMCID:: PMC4862247

Abstract Article PDF–546K

Select item 35615725.

Impaired Monoamine and Organic Cation Uptake in Choroid Plexus in Mice with Targeted Disruption of the Plasma Membrane Monoamine Transporter (Slc29a4) Gene

Haichuan Duan, Joanne Wang

J Biol Chem. 2013 Feb 1; 288(5): 3535–3544. Published online 2012 Dec 19. doi: 10.1074/jbc.M112.436972

PMCID:: PMC3561572

Abstract Article PDF–1.1M

Select item 34683306.

De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: A genomics approach to personalized medicine

Ryan E. O’Leary, Jean C. Shih, Keith Hyland, Nancy Kramer, Y. Jane Tavyev Asher, John M. Graham, Jr.

Eur J Med Genet. Author manuscript; available in PMC 2012 Oct 10.

Published in final edited form as: Eur J Med Genet. 2012 May; 55(5): 349–353. Published online 2012 Feb 3. doi: 10.1016/j.ejmg.2012.01.007

PMCID:: PMC3468330

Abstract Article PDF–657K

Select item 30834567.

MODERATE PRENATAL ALCOHOL EXPOSURE AND SEROTONIN GENOTYPE INTERACT TO ALTER CNS SEROTONIN FUNCTION IN RHESUS MONKEYS OFFSPRING

Mary L. Schneider, Colleen F. Moore, Christina S. Barr, Julie A. Larson, Gary W. Kraemer

Alcohol Clin Exp Res. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Alcohol Clin Exp Res. 2011 May; 35(5): 912–920. Published online 2011 Feb 5. doi: 10.1111/j.1530-0277.2010.01421.x

PMCID:: PMC3083456

Abstract Article PDF–561K

Select item 27997908.

Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

Rodney C. Samaco, Caleigh Mandel-Brehm, Hsiao-Tuan Chao, Christopher S. Ward, Sharyl L. Fyffe-Maricich, Jun Ren, Keith Hyland, Christina Thaller, Stephen M. Maricich, Peter Humphreys, John J. Greer, Alan Percy, Daniel G. Glaze, Huda Y. Zoghbi, Jeffrey L. Neul

Proc Natl Acad Sci U S A. 2009 Dec 22; 106(51): 21966–21971. Published online 2009 Dec 9. doi: 10.1073/pnas.0912257106

PMCID:: PMC2799790

Abstract Article PDF–1.1M

Select item 4866529.

Brain MRI, lumbar CSF monoamine concentrations, and clinical descriptors of patients with spinocerebellar ataxia mutations.

J J Higgins, J D Harvey-White, L E Nee, M J Colli, T A Grossi, I J Kopin

J Neurol Neurosurg Psychiatry. 1996 Dec; 61(6): 591–595. doi: 10.1136/jnnp.61.6.591

PMCID:: PMC486652

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