نتایج جستجو برای: huntington

تعداد نتایج: 5609  

Journal: :Fertility and sterility 2009
Judy F C Chow William S B Yeung Estella Y L Lau Stephen T S Lam Tony Tong Ernest H Y Ng Pak-Chung Ho

OBJECTIVE To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification. DESIGN Case report. SETTING University assisted reproduction unit. PATIENT(S) A couple with family history of Huntington disease: The husband was carrying the expanded allele of the IT15 gene, and the wife had the normal allele. INTERVENTION(S) Preimp...

Journal: :Proceedings of the National Academy of Sciences 2013

Journal: :Japanese Journal of Medicine 1978

2017
William H. Thornton

In his article, "Analyzing East/West Power Politics in Comparative Cultural Studies," William H. Thornton acknowledges culture as a central force on the geopolitical map and undertakes at once to preserve the strategic potency of political realism and to move beyond the "billiard ball" externality of both neoand traditional realisms. Although Huntington and Fukuyama are taken seriously on the q...

Journal: :Clinical genetics 2013
R MacLeod A Tibben M Frontali G Evers-Kiebooms A Jones A Martinez-Descales R A Roos

MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA and Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network. Recommendations for the predictive genetic test in Huntington’s disease Clin Genet 2013: 83: 221–231. © John Wiley & Sons A/S. Published by Blackwell Publishing Ltd, 2012 R MacLeoda,†,‡, A Tib...

Journal: :Neurology 2013
Miriam Moscovitch-Lopatin Rachel E Goodman Shirley Eberly James J Ritch H Diana Rosas Samantha Matson Wayne Matson David Oakes Anne B Young Ira Shoulson Steven M Hersch

OBJECTIVE We measured the levels of mutant huntingtin (mtHtt) and total huntingtin (tHtt) in blood leukocytes from Prospective Huntington At-Risk Observational Study (PHAROS) subjects at 50% risk of carrying the Huntington disease mutation using a homogeneous time-resolved fluorescence (HTRF) assay to assess its potential as a biomarker. METHODS Peripheral blood mononuclear cells from consent...

2017
Christopher G. Tarolli Amy M. Chesire Kevin M. Biglan

BACKGROUND Huntington disease is a fatal, autosomal dominant, neurodegenerative disorder manifest by the triad of a movement disorder, behavioral disturbances, and dementia. At present, no curative or disease modifying therapies exist for the condition and current treatments are symptomatic. Palliative care is an approach to care that focuses on symptom relief, patient and caregiver support, an...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2014
Barak Rotblat Amber L Southwell Dagmar E Ehrnhoefer Niels H Skotte Martina Metzler Sonia Franciosi Gabriel Leprivier Syam Prakash Somasekharan Adi Barokas Yu Deng Tiffany Tang Joan Mathers Naniye Cetinbas Mads Daugaard Brian Kwok Liheng Li Christopher J Carnie Dieter Fink Roberto Nitsch Jason D Galpin Christopher A Ahern Gerry Melino Josef M Penninger Michael R Hayden Poul H Sorensen

Oxidative stress plays a key role in late onset diseases including cancer and neurodegenerative diseases such as Huntington disease. Therefore, uncovering regulators of the antioxidant stress responses is important for understanding the course of these diseases. Indeed, the nuclear factor erythroid 2-related factor 2 (NRF2), a master regulator of the cellular antioxidative stress response, is d...

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