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Select item 39988871.

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, Martin S. Taylor, Hemant Bengani, David I. Wilson, Chandra Sekhar Reddy Chilamakuri, Harris Morrison, Geert Vandeweyer, Edwin Reyniers, Evelyn Douglas, Geoffrey Thompson, Eric Haan, Jozef Gecz, David R. FitzPatrick, R. Frank Kooy

PLoS Genet. 2014 Apr; 10(4): e1004242. Published online 2014 Apr 24. doi: 10.1371/journal.pgen.1004242

PMCID:: PMC3998887

Abstract Article PDF–1.8M

Select item 38687832.

Mutation for Nonsyndromic Mental Retardation in the trans-2-Enoyl-CoA Reductase TER Gene Involved in Fatty Acid Elongation Impairs the Enzyme Activity and Stability, Leading to Change in Sphingolipid Profile

Kensuke Abe, Yusuke Ohno, Takayuki Sassa, Ryo Taguchi, Minal Çalışkan, Carole Ober, Akio Kihara

J Biol Chem. 2013 Dec 20; 288(51): 36741–36749. Published online 2013 Nov 12. doi: 10.1074/jbc.M113.493221

PMCID:: PMC3868783

Abstract Article PDF–2.4M

Select item 38767103.

Alessandra Pecorelli, Guido Leoni, Franco Cervellati, Raffaella Canali, Cinzia Signorini, Silvia Leoncini, Alessio Cortelazzo, Claudio De Felice, Lucia Ciccoli, Joussef Hayek, Giuseppe Valacchi

Mediators Inflamm. 2013; 2013: 137629. Published online 2013 Dec 12. doi: 10.1155/2013/137629

PMCID:: PMC3876710

Abstract Article PDF–2.1M

Select item 38802474.

Altered neural activity of magnitude estimation processing in adults with the fragile X premutation

So-Yeon Kim, Ryu-ichiro Hashimoto, Flora Tassone, Tony J. Simon, Susan M. Rivera

J Psychiatr Res. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: J Psychiatr Res. 2013 Dec; 47(12): 10.1016/j.jpsychires.2013.08.014. Published online 2013 Sep 2. doi: 10.1016/j.jpsychires.2013.08.014

PMCID:: PMC3880247

Abstract Article PDF–963K

Select item 38823845.

Time-dependent modulation of GABA_A-ergic synaptic transmission by allopregnanolone in locus coeruleus neurons of Mecp2-null mice

Xin Jin, Weiwei Zhong, Chun Jiang

Am J Physiol Cell Physiol. 2013 Dec 1; 305(11): C1151–C1160. Published online 2013 Sep 25. doi: 10.1152/ajpcell.00195.2013

PMCID:: PMC3882384

Abstract Article

Select item 39099546.

Somatic Mutation, Genomic Variation, and Neurological Disease

Annapurna Poduri, Gilad D. Evrony, Xuyu Cai, Christopher A. Walsh

Science. Author manuscript; available in PMC 2014 Feb 3.

Published in final edited form as: Science. 2013 Jul 5; 341(6141): 1237758. doi: 10.1126/science.1237758

PMCID:: PMC3909954

Abstract Article PDF–2.0M

Select item 39211587.

Resting-State EEG Oscillatory Dynamics in Fragile X Syndrome: Abnormal Functional Connectivity and Brain Network Organization

Melle J. W. van der Molen, Cornelis J. Stam, Maurits W. van der Molen

PLoS One. 2014; 9(2): e88451. Published online 2014 Feb 11. doi: 10.1371/journal.pone.0088451

PMCID:: PMC3921158

Abstract Article PDF–903K

Select item 39222838.

Activity-Dependent Phosphorylation of MeCP2 T308 Regulates Interaction with NCoR

Daniel H. Ebert, Harrison W. Gabel, Nathaniel D. Robinson, Nathaniel R. Kastan, Linda S. Hu, Sonia Cohen, Adrija J. Navarro, Matthew J. Lyst, Robert Ekiert, Adrian P. Bird, Michael E. Greenberg

Nature. Author manuscript; available in PMC 2014 Jul 18.

Published in final edited form as: Nature. 2013 Jul 18; 499(7458): 341–345. doi: 10.1038/nature12348

PMCID:: PMC3922283

Article PDF–1.3M

Select item 39225359.

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

Randi Hagerman, Paul Hagerman

Lancet Neurol. Author manuscript; available in PMC 2014 Feb 12.

Published in final edited form as: Lancet Neurol. 2013 Aug; 12(8): 786–798. doi: 10.1016/S1474-4422(13)70125-X

PMCID:: PMC3922535

Abstract Article PDF–1.6M

Select item 392517310.

Visual–spatial learning impairments are associated with hippocampal PSD-95 protein dysregulation in a mouse model of fragile X syndrome

Réno M. Gandhi, Cary S. Kogan, Claude Messier, Lindsey S. MacLeod

Neuroreport. 2014 Mar 5; 25(4): 255–261. Published online 2014 Feb 14. doi: 10.1097/WNR.0000000000000087

PMCID:: PMC3925173

Abstract Article PDF–580K

Select item 393753211.

Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing

Lisa V. Kalman, Jack C. Tarleton, Alan K. Percy, Swaroop Aradhya, Sherri Bale, Shannon D. Barker, Pinar Bayrak-Toydemir, Christina Bridges, Arlene M. Buller-Burckle, Soma Das, Ramaswamy K. Iyer, Timothy D. Vo, Val V. Zvereff, Lorraine H. Toji

J Mol Diagn. 2014 Mar; 16(2): 273–279. doi: 10.1016/j.jmoldx.2013.11.004

PMCID:: PMC3937532

Abstract Article PDF–316K

Select item 395076912.

Language Comprehension Profiles of Young Adolescents with Fragile X Syndrome

Ashley Oakes, Sara T. Kover, Leonard Abbeduto

Am J Speech Lang Pathol. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Am J Speech Lang Pathol. 2013 Nov; 22(4): 615–626. Published online 2013 Jun 28. doi: 10.1044/1058-0360(2013/12-0109)

PMCID:: PMC3950769

Abstract Article PDF–348K

Select item 396688813.

Beta-Actin Deficiency with Oxidative Posttranslational Modifications in Rett Syndrome Erythrocytes: Insights into an Altered Cytoskeletal Organization

Alessio Cortelazzo, Claudio De Felice, Alessandra Pecorelli, Giuseppe Belmonte, Cinzia Signorini, Silvia Leoncini, Gloria Zollo, Antonietta Capone, Cinzia Della Giovampaola, Claudia Sticozzi, Giuseppe Valacchi, Lucia Ciccoli, Roberto Guerranti, Joussef Hayek

PLoS One. 2014; 9(3): e93181. Published online 2014 Mar 26. doi: 10.1371/journal.pone.0093181

PMCID:: PMC3966888

Abstract Article PDF–2.9M

Select item 396922814.

Hypoxia induces a HIF-1α dependent signaling cascade to make a complex metabolic switch in SGBS-adipocytes

Andreas Leiherer, Kathrin Geiger, Axel Muendlein, Heinz Drexel

Mol Cell Endocrinol. 2014 Mar 5; 383(1-2): 21–31. doi: 10.1016/j.mce.2013.11.009

PMCID:: PMC3969228

Abstract Article

Select item 398884015.

Pathophysiology of X-linked adrenoleukodystrophy

J. Berger, S. Forss-Petter, F.S. Eichler

Biochimie. 2014 Mar; 98(100): 135–142. doi: 10.1016/j.biochi.2013.11.023

PMCID:: PMC3988840

Abstract Article

Select item 399008716.

Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy

Hyung Jun Park, Ha Young Shin, Hoon-Chul Kang, Byung-Ok Choi, Bum Chun Suh, Ho Jin Kim, Young-Chul Choi, Phil Hyu Lee, Seung Min Kim

Yonsei Med J. 2014 May 1; 55(3): 676–682. Published online 2014 Apr 1. doi: 10.3349/ymj.2014.55.3.676

PMCID:: PMC3990087

Abstract Article PDF–863K

Select item 385960017.

Identification and Characterisation of Simiate, a Novel Protein Linked to the Fragile X Syndrome

Kristin Derlig, Andreas Gießl, Johann Helmut Brandstätter, Ralf Enz, Regina Dahlhaus

PLoS One. 2013; 8(12): e83007. Published online 2013 Dec 11. doi: 10.1371/journal.pone.0083007

PMCID:: PMC3859600

Abstract Article PDF–3.6M

Select item 401626118.

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

Aurore Curie, Tatjana Nazir, Amandine Brun, Yves Paulignan, Anne Reboul, Karine Delange, Anne Cheylus, Sophie Bertrand, Fanny Rochefort, Gérald Bussy, Stéphanie Marignier, Didier Lacombe, Catherine Chiron, Mireille Cossée, Bruno Leheup, Christophe Philippe, Vincent Laugel, Anne De Saint Martin, Silvia Sacco, Karine Poirier, Thierry Bienvenu, Isabelle Souville, Brigitte Gilbert-Dussardier, Eric Bieth, Didier Kauffmann, Philippe Briot, Bénédicte de Fréminville, Fabienne Prieur, Michel Till, Caroline Rooryck-Thambo, Isabelle Mortemousque, Isabelle Bobillier-Chaumont, Annick Toutain, Renaud Touraine, Damien Sanlaville, Jamel Chelly, Sonya Freeman, Jian Kong, Nouchine Hadjikhani, Randy L Gollub, Alice Roy, Vincent des Portes

Orphanet J Rare Dis. 2014; 9: 25. Published online 2014 Feb 14. doi: 10.1186/1750-1172-9-25

PMCID:: PMC4016261

Abstract Article PDF–2.9M

Select item 402977719.

Establishment of Lipofection for Studying miRNA Function in Human Adipocytes

Eveliina Enlund, Simon Fischer, René Handrick, Kerstin Otte, Klaus-Michael Debatin, Martin Wabitsch, Pamela Fischer-Posovszky

PLoS One. 2014; 9(5): e98023. Published online 2014 May 21. doi: 10.1371/journal.pone.0098023

PMCID:: PMC4029777

Abstract Article PDF–4.0M

Select item 403541920.

Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome

Jeannie Visootsak, Heather Hipp, Heather Clark, Elizabeth Berry-Kravis, Tovi Anderson, Dawn Laney

J Pediatr. Author manuscript; available in PMC 2015 Jun 1.

Published in final edited form as: J Pediatr. 2014 Jun; 164(6): 1292–1295. Published online 2014 Mar 6. doi: 10.1016/j.jpeds.2014.01.051

PMCID:: PMC4035419

Abstract Article PDF–35K

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