Results 21 to 30 of about 5,645,275 (159)
Case report: Cerebellar sparing in juvenile Huntington's disease
Frontiers in Neurology, 2023 Juvenile Huntington's disease is an early-onset variant of Huntington's disease, generally associated with large CAG repeats and distinct clinical symptoms. The role of the cerebellum in Huntington's disease has been reevaluated, based on the presence of Bruno Lopes Santos-Lobato, Bruno Lopes Santos-Lobato, Jéssica Santos de Souza Rocha, Luciano Chaves Rocha +3 moredoaj +1 more sourceHuntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1 [PDF]
, 2022 Huntington’s disease is caused by an expanded CAG tract in HTT. The length of the CAG tract accounts for over half the variance in age at onset of disease, and is influenced by other genetic factors, mostly implicating the DNA maintenance machinery.McDade-Kumar, Mia, Williams, Nigel M., Long, Jeffrey, Rosser, Anne, Landwehrmeyer, G Bernhard, Ryten, Mina, MacDonald, Marcy E, Orth, Michael, MacDonald, Marcy E., Gusella, James, Gusella, James F, Paulsen, Jane S., Long, Jeffrey D, Lobanov, Sergey, Holmans, Peter, Massey, Thomas, Massey, Thomas H, Landwehrmeyer, G. Bernhard, PREDICT-HD Investigators of the Huntington Study Group, Rosser, Anne E., Long, Jeffrey D., Jones, Lesley, Lobanov, Sergey V, REGISTRY Investigators of the European Huntington’s disease netw, Gusella, James F., Massey, Thomas H., Landwehrmeyer, Bernhard, Lee, Jong-Min, McAllister, Branduff, Williams, Nigel M, Paulsen, Jane S, Lobanov, Sergey V., Paulsen, Jane, Williams, Nigel, Rosser, Anne E, MacDonald, Marcy +35 morecore +2 more sourcesThe 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 morecore +1 more sourceClinical 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 morecore +1 more sourceComprehensive 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 morecore +2 more sourcesObserving Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]
, 2010 The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer +59 morecore +1 more sourceAssessment of the Performance of a Modified Motor Scale as Applied to Juvenile Onset Huntington’s Disease [PDF]
, 2019 Background:Huntington’s disease can present at almost any age but traditionally, those with an onset ≤20 years are described as having juvenile onset Huntington’s disease (JOHD).Landwehrmyer, G Bernhard, Nopoulos, Peggy, Burgunder Jean-Marc, REGISTRY Investigators of the European Huntington’s Disease Netw, Squitieri, F, Horton, MC, Nopoulos, P, Burgunder, J-M, Barker, Roger A, Nance, M, Burgunder, Jean-Marc, Russo C. V., Horton, Mike C, Nance, Martha, Quarrell, O, Barker, RA, Landwehrmyer, GB, Squitieri, Ferdinando, Quarrell, Oliver +18 morecore +2 more sourcesVariation within the Huntington's disease gene influences normal brain structure. [PDF]
, 2011 Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. Here, we Juliane Winkelmann, Meisenzahl Eva M., Rujescu Dan, Rujescu, D., Giegling Ina, Gaser, C., Mühlau Mark, Eva M. Meisenzahl, Giegling, Ina, Winkelmann, Juliane, Winkelmann Juliane, Dan Rujescu, Meisenzahl, E.M., Adolph Weindl, Reiser Maximilian, Ina Giegling, Arsic, M., Winkelmann, J., Meisenzahl, Eva M., Koutsouleris Nikolaos, Gaser, Christian, Koutsouleris, Nikolaos, Christian Gaser, Reiser, M., Reiser, Maximilian, Gaser Christian, Mühlau, Mark, Giegling, I., Nikolaos Koutsouleris, Weindl Adolph, Mühlau, M., Arsic Milan, Mark Mühlau, Maximilian Reiser, Milan Arsic, Koutsouleris, N., Weindl, A., Weindl, Adolph, Eva M Meisenzahl, Arsic, Milan, Rujescu, Dan +40 morecore +2 more sourcesGenetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s disease
BMC Neurology, 2021 Background Recent advances in therapeutic options may prevent deterioration related to Huntington’s disease (HD), even at the pre-symptomatic stage. Be that as it may, a well-characterized patient population is essential for screening and monitoring ...Katalin Despotov, Dénes Zádori, Gábor Veres, Katalin Jakab, Gabriella Gárdián, Eszter Tóth, Tamás Zsigmond Kincses, László Vécsei, András Ajtay, Dániel Bereczki, Péter Klivényi +10 moredoaj +1 more source
