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Select item 29567171.

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers

Noel Peretti, Agnès Sassolas, Claude C Roy, Colette Deslandres, Mathilde Charcosset, Justine Castagnetti, Laurence Pugnet-Chardon, Philippe Moulin, Sylvie Labarge, Lise Bouthillier, Alain Lachaux, Emile Levy

Orphanet J Rare Dis. 2010; 5: 24. Published online 2010 Sep 29. doi: 10.1186/1750-1172-5-24

PMCID:: PMC2956717

Abstract Article PDF–2.0M

Select item 32322702.

Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis

Dhouha Darghouth, Bérengère Koehl, Jean François Heilier, Geoffrey Madalinski, Petra Bovee, Giel Bosman, Jean Delaunay, Christophe Junot, Paul-Henri Roméo

Haematologica. 2011 Dec; 96(12): 1861–1865. doi: 10.3324/haematol.2011.045179

PMCID:: PMC3232270

Abstract Article PDF–1.3M

Select item 35775273.

Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake

C I Nabuurs, C U Choe, A Veltien, H E Kan, L J C van Loon, R J T Rodenburg, J Matschke, B Wieringa, G J Kemp, D Isbrandt, A Heerschap

J Physiol. 2013 Jan 15; 591(Pt 2): 571–592. Published online 2012 Nov 5. doi: 10.1113/jphysiol.2012.241760

PMCID:: PMC3577527

Abstract Article PDF–1.5M

Select item 35471974.

Bcl-2 rs956572 Polymorphism is Associated with Increased Anterior Cingulate Cortical Glutamate in Euthymic Bipolar I Disorder

Márcio Gerhardt Soeiro-de-Souza, Giacomo Salvadore, Ricardo Alberto Moreno, Maria Concepción Garcia Otaduy, Kalil T Chaim, Wagner F Gattaz, Carlos A Zarate, Jr, Rodrigo Machado-Vieira

Neuropsychopharmacology. 2013 Feb; 38(3): 468–475. Published online 2012 Oct 17. doi: 10.1038/npp.2012.203

PMCID:: PMC3547197

Abstract Article PDF–383K

Select item 35088005.

Effect of metabotropic glutamate receptor 3 genotype on N-acetylaspartate levels and neurocognition in non-smoking, active alcoholics

Yan Xia, Dongying Ma, Jian Hu, Chunling Tang, Zheng Wu, Lei Liu, Feng Xin

Behav Brain Funct. 2012; 8: 42. Published online 2012 Aug 21. doi: 10.1186/1744-9081-8-42

PMCID:: PMC3508800

Abstract Article PDF–3.0M

Select item 34634616.

A defect in dystrophin causes a novel porcine stress syndrome

Dan J Nonneman, Tami Brown-Brandl, Shuna A Jones, Ralph T Wiedmann, Gary A Rohrer

BMC Genomics. 2012; 13: 233. Published online 2012 Jun 12. doi: 10.1186/1471-2164-13-233

PMCID:: PMC3463461

Abstract Article PDF–1.1M

Select item 34293337.

Laboratory Abnormalities in Patients with Myotonic Dystrophy Type 2

Chad Heatwole, Nicholas Johnson, Bradley Goldberg, William Martens, Richard Moxley, III

Arch Neurol. Author manuscript; available in PMC 2012 Sep 1.

Published in final edited form as: Arch Neurol. 2011 Sep; 68(9): 1180–1184. doi: 10.1001/archneurol.2011.191

PMCID:: PMC3429333

Abstract Article PDF–288K

Select item 34230898.

Transgenic MMP-2 expression induces latent cardiac mitochondrial dysfunction

Hui-Zhong Zhou, Xiaokui Ma, Mary O. Gray, Bo-qing Zhu, Anita P. Nguyen, Anthony J. Baker, Ursula Simonis, Gary Cecchini, David H. Lovett, Joel S. Karliner

Biochem Biophys Res Commun. Author manuscript; available in PMC 2012 Aug 20.

Published in final edited form as: Biochem Biophys Res Commun. 2007 Jun 22; 358(1): 189–195. Published online 2007 Apr 23. doi: 10.1016/j.bbrc.2007.04.094

PMCID:: PMC3423089

Abstract Article PDF–781K

Select item 33301239.

CD8⁺ T-Cells Expressing Interferon Gamma or Perforin Play Antagonistic Roles in Heart Injury in Experimental Trypanosoma Cruzi-Elicited Cardiomyopathy

Jaline Coutinho Silverio, Isabela Resende Pereira, Márcio da Costa Cipitelli, Nathália Ferreira Vinagre, Maurício Martins Rodrigues, Ricardo Tostes Gazzinelli, Joseli Lannes-Vieira

PLoS Pathog. 2012 Apr; 8(4): e1002645. Published online 2012 Apr 19. doi: 10.1371/journal.ppat.1002645

PMCID:: PMC3330123

Abstract Article PDF–3.1M

Select item 330655310.

Creatine Transporter Defect Diagnosed by Proton NMR Spectroscopy in Males With Intellectual Disability

Maria Antonietta Mencarelli, Maria Tassini, Marzia Pollazzon, Antonio Vivi, Marco Calderisi, Michele Falco, Marco Fichera, Lucia Monti, Sabrina Buoni, Francesca Mari, Udo Engelke, Ron A Wevers, Joussef Hayek, Alessandra Renieri

Am J Med Genet A. 2011 Oct; 155(10): 2446–2452. Published online 2011 Sep 9. doi: 10.1002/ajmg.a.34208

PMCID:: PMC3306553

Abstract Article PDF–409K

Select item 327651311.

A Transcriptomic Approach to Search for Novel Phenotypic Regulators in McArdle Disease

Gisela Nogales-Gadea, Inés Consuegra-García, Juan C. Rubio, Joaquin Arenas, Marc Cuadros, Yolanda Camara, Javier Torres-Torronteras, Carmen Fiuza-Luces, Alejandro Lucia, Miguel A. Martín, Elena García-Arumí, Antoni L. Andreu

PLoS One. 2012; 7(2): e31718. Published online 2012 Feb 9. doi: 10.1371/journal.pone.0031718

PMCID:: PMC3276513

Abstract Article PDF–618K

Select item 364491412.

Alkaptonuria and pompe disease in one patient: metabolic and molecular analysis

Mohammad Zouheir Habbal, Tarek Bou Assi, Hicham Mansour

BMJ Case Rep. 2013; 2013: bcr2012008491. Published online 2013 Apr 29. doi: 10.1136/bcr-2012-008491

PMCID:: PMC3644914

Abstract Article PDF–122K

Select item 321289613.

Neuroacanthocytosis Syndromes

Hans H Jung, Adrian Danek, Ruth H Walker

Orphanet J Rare Dis. 2011; 6: 68. Published online 2011 Oct 25. doi: 10.1186/1750-1172-6-68

PMCID:: PMC3212896

Abstract Article PDF–616K

Select item 321013214.

Induction of PGC-1α Expression Can Be Detected in Blood Samples of Patients with ST-Segment Elevation Acute Myocardial Infarction

Óscar Fabregat-Andrés, Alberto Tierrez, Manuel Mata, Jordi Estornell-Erill, Francisco Ridocci-Soriano, María Monsalve

PLoS One. 2011; 6(11): e26913. Published online 2011 Nov 7. doi: 10.1371/journal.pone.0026913

PMCID:: PMC3210132

Abstract Article PDF–537K

Select item 315108815.

Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Adèle Salin-Cantegrel, Jean-Baptiste Rivière, Masoud Shekarabi, Sarah Rasheed, Sandra DaCal, Janet Laganière, Rébecca Gaudet, Daniel Rochefort, Gaëtan Lesca, Claudia Gaspar, Patrick A. Dion, Jean-Yves Lapointe, Guy A. Rouleau

J Biol Chem. 2011 Aug 12; 286(32): 28456–28465. Published online 2011 May 31. doi: 10.1074/jbc.M111.226894

PMCID:: PMC3151088

Abstract Article PDF–1.8M

Select item 313395516.

Mice lacking brain-type creatine kinase activity show defective thermoregulation

Femke Streijger, Helma Pluk, Frank Oerlemans, Gaby Beckers, Antonio C. Bianco, Miriam O. Ribeiro, Bé Wieringa, Catharina E.E.M. Van der Zee

Physiol Behav. Author manuscript; available in PMC 2011 Jul 12.

Published in final edited form as: Physiol Behav. 2009 Apr 20; 97(1): 76–86. Published online 2009 Feb 10. doi: 10.1016/j.physbeh.2009.02.003

PMCID:: PMC3133955

Abstract Article PDF–2.7M

Select item 310477417.

Mitochondrial dysfunction in patients with primary congenital insulin resistance

Alison Sleigh, Philippa Raymond-Barker, Kerrie Thackray, David Porter, Mensud Hatunic, Alessandra Vottero, Christine Burren, Catherine Mitchell, Martin McIntyre, Soren Brage, T. Adrian Carpenter, Peter R. Murgatroyd, Kevin M. Brindle, Graham J. Kemp, Stephen O’Rahilly, Robert K. Semple, David B. Savage

J Clin Invest. 2011 Jun 1; 121(6): 2457–2461. Published online 2011 May 9. doi: 10.1172/JCI46405

PMCID:: PMC3104774

Abstract Article PDF–298K

Select item 293896818.

MRS in presymptomatic MAPT mutation carriers: A potential biomarker for tau-mediated pathology

K. Kantarci, B.F. Boeve, Z.K. Wszolek, R. Rademakers, J.L. Whitwell, M.C. Baker, M.L. Senjem, A.R. Samikoglu, D.S. Knopman, R.C. Petersen, C.R. Jack, Jr.

Neurology. 2010 Aug 31; 75(9): 771–778. doi: 10.1212/WNL.0b013e3181f073c7