Results 11 to 20 of about 5,213,140 (133)

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Lopes-Cendes, Iscia, Odile Russaouen, Cécile Cazeneuve, Cazeneuve, Cécile, Walker R.H., Russaouen O., Bader B., Guilherme Riccioppo Rodrigues, Brice A., Russaouen, Odile, Tumas, Vitor, Wilson Marques Jr., Rodrigues G.R., Iscia Lopes-Cendes, Danek, Adrian, Adrian Danek, MARQUES JR., Wilson, Brice, Alexis, Marques Jr. W., Marques, Wilson, Vitor Tumas, Walker, Ruth H., Bader, Benedikt, Benedikt Bader, Danek A., Cazeneuve C., Ruth H. Walker, Riccioppo Rodrigues, Guilherme, RODRIGUES, Guilherme Riccioppo, Alexis Brice, Tumas V., Lopes-Cendes I.   +31 more
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The personal experience of parenting a child with Juvenile Huntington’s Disease: perceptions across Europe [PDF]

, 2013
The study reported here presents a detailed description of what it is like to parent a child with juvenile Huntington’s disease in families across four European countries. Its primary aim was to develop and extend findings from a previous UK study.
Jonathan A Smith, Tibben, A., Ferdinando Squitieri, Bernhard Landwehrmeyer, Krysa, W., Marie-Louise Goller, Helen Santini, ‘Annunziata’ de Nicola, Oliver Quarrell, Petrollini, M., Matteo Paduanello, Landwehrmeyer, B., de Nicola, A., Virginia Eatough, Christine Eiser, Paduanello, M., Santini, H., Lee Weille, K., Aad Tibben, Smith, Jonathan A., Maria Rakowicz, Quarrell, O., Katie Lee Weille, Squitieri, F., Rakowicz, M., Eiser, C., Eatough, Virginia, Wioletta Krysa, Martina Petrollini, Goller, M.-L.   +29 more
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Comprehensive behavioral testing in the R6/2 mouse model of Huntington's disease shows no benefit from CoQ10 or minocycline [PDF]

, 2010
Previous studies of the effects of coenzyme Q10 and minocycline on mouse models of Huntington’s disease have produced conflicting results regarding their efficacy in behavioral tests.
Brunner Daniela, Menalled Liliana B., Brunner, D., Signer Ethan, Liliana B Menalled, Benjamin Zahasky, Ragland Natalie, Tobin Allan J., Allan J Tobin, Larry Park, Ragland, N., Minnich, J., Leeds, J., Daniela Brunner, Jennifer Goodman, Zahasky, B., Signer, E., Leeds Janet, Howland David, Zahasky Benjamin, Goodman, J., Tobin, A.J., Patry Monica, Minnich Jennie, Ethan Signer, Goodman Jennifer, Patry, M., Menalled, L.B., Lowden, Philip A.S., Jennie Minnich, Park Larry, Phillip A S Lowden, Howland, D., Park, L., Janet Leeds, Monica Patry, Lowden Phillip A. S., David Howland, Natalie Ragland   +38 more
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Disease stage, but not sex, predicts depression and psychological distress in Huntington’s disease : A European population study

, 2015
Objective Depression and anxiety significantly affect morbidity in Huntington’s disease. Mice models of Huntington’s disease have identified sex differences in mood-like behaviours that vary across disease lifespan, but this interaction has not ...
Maria Dale (7634207), S. Shimozaki (7654832), John Julian Maltby (7634057), R. Cramp (7654835), H. Rickards (7654838), REGISTRY investigators of the European Huntington’s Disease Network (7634216)   +5 more
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Exploring the structural relationship between interviewer and self-rated affective symptoms in Huntington’s disease [PDF]

, 2016
This study explores the structural relationship between self-report and interview measures of affect in Huntington’s disease. The findings suggest continued use of both to recognize the multidimensionality within a single common consideration of ...
Dale M, Ferraldeschi M, Underwood M, Rickards H, REGISTRY Investigators of the European Huntington’s Disease Network, Callaghan J, Romano S, Ristori G., Maltby J   +8 more
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Exploring the Reliability and Validity of the Huntington’s Disease Quality of Life Battery for Carers (HDQoL-C) within A Polish Population [PDF]

, 2019
Huntington’s disease (HD) is a rare genetic neurodegenerative disorder that causes motor disorders, neuropsychiatric symptoms and a progressing deterioration of cognitive functions.
Aubeeluck, Aimee, ?lusarska, Barbara, Aubeeluck, Aimeee, Stupple, Edward, Bartoszek, Adrian, Adrian Bartoszek, Barbara Ślusarska, Edward Stupple, Katarzyna Kocka, Kocka, K, Ślusarska, B, Stupple, Edward J. N., Bartoszek, Agnieszka, Kocka, Katarzyna, Aimee Aubeeluck, Bartoszek, A, Agnieszka Bartoszek   +16 more
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Metallothioneins and copper metabolism are candidate therapeutic targets in Huntington’s disease [PDF]

, 2010
HD (Huntington's disease) is caused by a polyQ (polyglutamine) expansion in the huntingtin protein, which leads to protein misfolding and aggregation of this protein. Abnormal copper accumulation in the HD brain was first reported more than 15 years ago.
Giorgini, Flaviano, Flaviano Giorgini (58325), Robert Mason (3269031), Sajjad, MU, Hands, Sarah L., M. Umar Sajjad, Wyttenbach, Andreas, Robert Mason, Wyttenbach, A, Mason, Robert, Andreas Wyttenbach, Andreas Wyttenbach (7595339), Umar Sajjad, M., Sarah L. Hands, M. Umar Sajjad (7595336), Sarah L. Hands (7595333), Flaviano Giorgini, Hands, SL, Mason, R; id_orcid   +18 more
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Impact of the control for corrupted diffusion tensor imaging data in comparisons at the group level : an application in Huntington disease [PDF]

, 2014
This work was supported by the European Union under the Seventh Framework programme– PADDINGTON Project, Grant Agreement No. 261358, and the European Huntington’s Disease Network (EHDN), project 070 – PADDINGTON.Background: Corrupted gradient directions (
Landwehrmeyer, G.B., Muller, H.P., Müller, H.-P., Hobbs, N.Z., Kassubek, J., Orth, M., Tabrizi, S.J., Klöppel, S., Sprengelmeyer, R., Ludolph, A.C., Süssmuth, S.D., Grön, G., Duerr, A., Roos, R.A.C.   +13 more
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Na+ channel β subunits: Overachievers of the ion channel family

Frontiers in Pharmacology, 2011
Voltage gated Na+ channels (VGSCs) in mammals contain a pore-forming α subunit and one or more β subunits. There are five mammalian β subunits in total: β1, β1B, β2, β3, and β4, encoded by four genes: SCN1B-SCN4B.
William J Brackenbury, Lori L Isom
doaj   +1 more source

Huntington's disease: An immune perspective [PDF]

, 2011
Copyright © 2011 Annapurna Nayaketal. This article has been made available through the Brunel Open Access Publishing Fund.Huntington's disease (HD) is a progressive neurodegenerative disorder that is caused by abnormal expansion of CAG trinucleotide ...
Kishore, U, Domenico Marco Bonifati, Ansar, R, Verma, SK, Rafia Ansar, Nayak, A, Sunil K. Verma, Annapurna Nayak, Bonifati, DM, Uday Kishore   +9 more
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