PMC Links for Books (Select 1464562) - PMC

Maya Patel, Charles J. Isaacs, Lauren Seyer, Karlla Brigatti, Sarah Gelbard, Cassandra Strawser, Debbie Foerster, Julianna Shinnick, Kimberly Schadt, Eppie M. Yiu, Martin B. Delatycki, Susan Perlman, George R. Wilmot, Theresa Zesiewicz, Katherine Mathews, Christopher M. Gomez, Grace Yoon, Sub H. Subramony, Alicia Brocht, Jennifer Farmer, David R. Lynch

Ann Clin Transl Neurol. 2016 Sep; 3(9): 684–694. Published online 2016 Jul 25. doi: 10.1002/acn3.332

PMCID:: PMC5018581

Article PDF–167K

Select item 49140824.

Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor

Yogesh K. Chutake, Christina C. Lam, Whitney N. Costello, Michael P. Anderson, Sanjay I. Bidichandani

Nucleic Acids Res. 2016 Jun 20; 44(11): 5095–5104. Published online 2016 Feb 20. doi: 10.1093/nar/gkw107

PMCID:: PMC4914082

Article PDF–2.5M

Select item 49001755.

Central Role and Mechanisms of β-Cell Dysfunction and Death in Friedreich Ataxia–Associated Diabetes

Miriam Cnop, Mariana Igoillo-Esteve, Myriam Rai, Audrey Begu, Yasmina Serroukh, Chantal Depondt, Anyishai E. Musuaya, Ihsane Marhfour, Laurence Ladrière, Xavier Moles Lopez, Dionysios Lefkaditis, Fabrice Moore, Jean-Pierre Brion, J. Mark Cooper, Anthony H. V. Schapira, Anne Clark, Arnulf H. Koeppen, Piero Marchetti, Massimo Pandolfo, Décio L. Eizirik, Françoise Féry

Ann Neurol. Author manuscript; available in PMC 2016 Jun 9.

Published in final edited form as: Ann Neurol. 2012 Dec; 72(6): 971–982. doi: 10.1002/ana.23698

PMCID:: PMC4900175

Article PDF–649K

Select item 46540506.

Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus

Yanjie Li, Yue Lu, Urszula Polak, Kevin Lin, Jianjun Shen, Jennifer Farmer, Lauren Seyer, Angela D. Bhalla, Natalia Rozwadowska, David R. Lynch, Jill Sergesketter Butler, Marek Napierala

Hum Mol Genet. 2015 Dec 15; 24(24): 6932–6943. Published online 2015 Sep 23. doi: 10.1093/hmg/ddv397

PMCID:: PMC4654050

Article PDF–692K

Select item 43610377.

Epigenetic Therapy for Friedreich Ataxia

Elisabetta Soragni, Wenyan Miao, Marco Iudicello, David Jacoby, Stefania De Mercanti, Marinella Clerico, Filomena Longo, Antonio Piga, Sherman Ku, Erica Campau, Jintang Du, Pablo Penalver, Myriam Rai, Joseph C. Madara, Kristopher Nazor, Melinda O’Connor, Anton Maximov, Jeanne F. Loring, Massimo Pandolfo, Luca Durelli, Joel M. Gottesfeld, James R. Rusche

Ann Neurol. Author manuscript; available in PMC 2015 Mar 16.

Published in final edited form as: Ann Neurol. 2014 Oct; 76(4): 489–508. Published online 2014 Sep 16. doi: 10.1002/ana.24260

PMCID:: PMC4361037

Article PDF–2.9M

Select item 42800018.

Consensus clinical management guidelines for Friedreich ataxia

Louise A Corben, David Lynch, Massimo Pandolfo, Jörg B Schulz, Martin B Delatycki, On behalf of the Clinical Management Guidelines Writing Group

Orphanet J Rare Dis. 2014; 9: 184. Published online 2014 Nov 30. doi: 10.1186/s13023-014-0184-7

PMCID:: PMC4280001

Article PDF–267K

Select item 41919939.

Epigenetic Promoter Silencing in Friedreich Ataxia is Dependent on Repeat Length

Yogesh K. Chutake, Christina Lam, Whitney N. Costello, Michael Anderson, Sanjay I. Bidichandani

Ann Neurol. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Ann Neurol. 2014 Oct; 76(4): 522–528. Published online 2014 Aug 30. doi: 10.1002/ana.24249

PMCID:: PMC4191993

Article PDF–261K

Select item 414087910.

Altered Nucleosome Positioning at the Transcription Start Site and Deficient Transcriptional Initiation in Friedreich Ataxia

Yogesh K. Chutake, Whitney N. Costello, Christina Lam, Sanjay I. Bidichandani

J Biol Chem. 2014 May 30; 289(22): 15194–15202. Published online 2014 Apr 15. doi: 10.1074/jbc.M114.566414

PMCID:: PMC4140879

Article PDF–1.4M

Select item 386184811.

Does Intrathecal Baclofen Have a Place in the Treatment of Painful Spasms in Friedreich Ataxia?

Shala Ghaderi Berntsson, Anders Holtz, Atle Melberg

Case Rep Neurol. 2013 Sep-Dec; 5(3): 201–203. Published online 2013 Nov 21. doi: 10.1159/000356823

PMCID:: PMC3861848

Article PDF–422K

Select item 367449612.

Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants

Sean R. Regner, Nicholas Wilcox, Lisa S. Friedman, Lauren Seyer, Kim Schadt, Karlla W. Brigatti, Susan Perlman, Martin Delatycki, George R. Wilmot, Christopher M. Gomez, Khalaf O. Bushara, Katherine D. Mathews, S.H. Subramony, Tetsuo Ashizawa, Bernard Ravina, Alicia Brocht, Jennifer M. Farmer, David R. Lynch

J Child Neurol. Author manuscript; available in PMC 2013 Sep 1.

Published in final edited form as: J Child Neurol. 2012 Sep; 27(9): 1152–1158. Published online 2012 Jun 29. doi: 10.1177/0883073812448462

PMCID:: PMC3674496

Article PDF–1.7M

Select item 367189213.

Cardiac Transplantation in Friedreich Ataxia

Grace Yoon, Teesta Soman, Judith Wilson, Kristen George, Seema Mital, Anne I. Dipchand, Jane McCabe, William Logan, Paul Kantor

J Child Neurol. Author manuscript; available in PMC 2013 Sep 1.

Published in final edited form as: J Child Neurol. 2012 Sep; 27(9): 1193–1196. Published online 2012 Jun 29. doi: 10.1177/0883073812448229

PMCID:: PMC3671892

Article PDF–33K

Select item 362467814.

Rating disease progression of Friedreich’s ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database

Günther Metz, Nicholas Coppard, Jonathon M. Cooper, Martin B. Delatycki, Alexandra Dürr, Nicholas A. Di Prospero, Paola Giunti, David R. Lynch, J. B. Schulz, Christian Rummey, Thomas Meier

Brain. 2013 Jan; 136(1): 259–268. Published online 2013 Jan 28. doi: 10.1093/brain/aws309

PMCID:: PMC3624678

Article PDF–612K

Select item 357218615.

Pharmacological Screening Using an FXN-EGFP Cellular Genomic Reporter Assay for the Therapy of Friedreich Ataxia

Lingli Li, Lucille Voullaire, Chiranjeevi Sandi, Mark A. Pook, Panos A. Ioannou, Martin B. Delatycki, Joseph P. Sarsero

PLoS One. 2013; 8(2): e55940. Published online 2013 Feb 13. doi: 10.1371/journal.pone.0055940

PMCID:: PMC3572186

Article PDF–1.2M

Select item 337323616.

Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model

Barbara Tomassini, Gaetano Arcuri, Silvia Fortuni, Chiranjeevi Sandi, Vahid Ezzatizadeh, Carlo Casali, Ivano Condò, Florence Malisan, Sahar Al-Mahdawi, Mark Pook, Roberto Testi

Hum Mol Genet. 2012 Jul 1; 21(13): 2855–2861. Published online 2012 Mar 23. doi: 10.1093/hmg/dds110