Results 141 to 150 of about 9,201,564 (391)

Testicular degeneration in Huntington disease

Neurobiology of Disease, 2007
Huntington disease (HD) is an adult onset, neurodegenerative disorder that results from CAG expansion in the HD gene. Recent work has demonstrated testicular degeneration in mouse models of HD and alterations in the hypothalamic–pituitary–gonadal (HPG ...
Jeremy M. Van Raamsdonk, Zoe Murphy, David M. Selva, Reza Hamidizadeh, Jacqueline Pearson, Ǻsa Petersén, Maria Björkqvist, Cameron Muir, Ian R. Mackenzie, Geoffrey L. Hammond, A. Wayne Vogl, Michael R. Hayden, Blair R. Leavitt   +12 more
doaj  

Efectividad del ejercicio terapéutico en la “Unified Huntington´s Disease Rating Scale” en pacientes diagnosticados de Enfermedad de Huntington (Effectiveness of therapeutic exercise on the “Unified Huntington´s Disease Rating Scale” in patients diagnosed with Huntington´s Disease)

Retos: Nuevas Tendencias en Educación Física, Deportes y Recreación
Introducción: La Enfermedad de Huntington es un trastorno neurodegenerativo de herencia autosómica dominante caracterizado por presentar síntomas motores, cognitivos y psiquiátricos progresivos, para la cual no existe cura, solamente tratamiento ...
Irimia Mollinedo Cardalda, Aurelia Vilas Pousada, Karina Pitombeira Pereira Pedro, Iris Machado de Oliveira   +3 more
doaj   +1 more source

NMDA receptor gene variations as modifiers in Huntington disease: a replication study. [PDF]

, 2011
Several candidate modifier genes which, in addition to the pathogenic CAG repeat expansion, influence the age at onset (AO) in Huntington disease (HD) have already been described.
Arning, L, Craufurd, D, de Yebenes, JG, Dose, M, Epplen, JT, Landwehrmeyer, GB, REGISTRY Investigators of the European Huntington's Disease Netw, The, Roos, RA, Saft, C, Tabrizi, SJ, Wieczorek, S   +10 more
core  

Molecular diagnosis of Huntington disease in Brazilian patients [PDF]

, 2000
TEREZA C. LIMA E SILVA, Heliane Guerra Serra, Carmen Sílvia Bertuzzo, Íscia Lopes‐Cendes   +3 more
openalex   +1 more source

Huntington’s Disease Clinical Trials Corner: June 2019

Journal of Huntington's Disease, 2019
In this edition of the Huntington’s Disease Clinical Trials Corner we expand on the HD-DBS and on the TRIHEP3 trials, and we list all currently registered and ongoing clinical trials in Huntington’s disease.
F. B. Rodrigues, J. Ferreira, E. Wild
semanticscholar   +1 more source

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY

Journal of Neurology, Neurosurgery & Psychiatry, 2010
BACKGROUND: Huntington's disease (HD) is a rare triplet repeat (CAG) disorder. Advanced, multi-centre, multi-national research frameworks are needed to study simultaneously multiple complementary aspects of HD. This includes the natural history of HD, its management and the collection of clinical information and biosamples for research. METHODS:
Orth M, Handley OJ, Schwenke C, Dunnett S, Wild EJ, Tabrizi SJ, Landwehrmeyer GB, Bachoud Lévi AC, Bentivoglio AR, Biunno I, Bonelli R, Burgunder JM, Dunnett SB, Ferreira JJ, Giuliano J, Handley OJ, Heiberg A, Illmann T, van Kammen D, Landwehrmeye GB, Levey J, Nielsen JE, Päivärinta M, Roos RA, Sebastián AR, Tabrizi SJ, Vandenberghe W, Verellen Dumoulin C, Zaremba J, Uhrova T, Wahlström J, Schwenke C, Orth M, Illmann T, Wallner M, Barth K, Guedes LC, Finisterra AM, Garde MB, Bos R, Burg S, Ecker D, Handley OJ, Held C, Koppers K, Laurà M, Descals AM, McLean T, Mestre T, Minster S, Monza D, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Koivisto SP, Rialland A, Røren N, Sasinková P, Cubillo PT, Tritsch C, van Walsem MR, Witjes Ané MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Bonelli RM, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Brugger F, Hepperger C, Hotter A, Mahlknecht P, Nocker M, Seppi K, Wenning G, Buratti L, Hametner EM, Holas C, Hussl A, Mair K, Poewe W, Wolf E, Zangerl A, Braunwarth EM, Lilek S, Sinadinosa D, Walleczek AM, Bonelli RM, Ladurner G, Staffen W, Ribaï P, Verellen Dumoulin C, Flamez A, Morez V, de Raedt S, Boogaerts A, Vandenberghe W, van Reijen D, Klempíř J, Kucharík M, Roth J, Šenkárová Z, Hasholt L, Hjermind LE, Jakobsen O, Nørremølle A, Sørensen SA, Stokholm J, Nielsen J, Hiivola H, Martikainen K, Tuuha K, Peippo M, Sipponen M, Ignatius J, Kärppä M, Åman J, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer Gagou C, Verny C, Babiloni B, Debruxelles S, Goizet C, Lafoucrière D, De Bruycker C, Carette AS, Decorte E, Delval A, Delliaux M, Dujardin K, Peter M, Plomhouse L, Simonin C, Thibault Tanchou S, Bellonet M, Duru C, Krystkowiak P, Roussel M, Wannepain S, Azulay JP, Chabot C, Delphini M, Eusebio A, Grosjean H, Mundler L, Nowak M, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann MA, Calvas F, Cheriet S, Démonet JF, Galitzky M, Kosinski CM, Milkereit E, Probst D, Sass C, Schiefer J, Schlangen C, Werner CJ, Gelderblom H, Priller J, Prüss H, Spruth EJ, Andrich J, Hoffmann R, Kraus PH, Muth S, Prehn C, Saft C, Salmen S, Stamm C, Steiner T, Strassburger K, Lange H, Friedrich A, Hunger U, Löhle M, Ganos C, Schrader C, Reilmann R, Landwehrmeyer B, Capellari S, Rizzo G, Abbruzzese G, Di Maria E, Mandich P, Di Bella D, Gellera C, Mariotti C, Rinaldi C, Russo CV, Cannella M, ROMANO, SILVIA, Frich J, Slawek J, Janik P, Rakowicz M, Cavaco S, Gago M, Barrero F, Calopa M, Gorospe A, Paucar M, Svenningsson P, Tedroff J, Busse M, Rosser A, Lahiri N, Tabrizi S, Wild E   +232 more
openaire   +10 more sources

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Polymorphisms in the CAG repeat – a source of error in Huntington disease DNA testing [PDF]

, 2000
Shaoqing Yu, A L Fimmel, David Fung, R J Trent   +3 more
openalex   +1 more source

Huntingtin suppression restores cognitive function in a mouse model of Huntington’s disease

Science Translational Medicine, 2018
Mutant huntingtin suppression with antisense oligonucleotides reverses cognitive impairments in a mouse model of Huntington’s disease. Rescuing cognition in Huntington’s disease Huntington’s disease (HD) is a neurodegenerative disorder caused by mutation
Amber L. Southwell, H. Kordasiewicz, D. Langbehn, N. H. Skotte, Matthew P. Parsons, Erika B Villanueva, N. Caron, Michael E. Østergaard, Lisa M. Anderson, Yuanyun Xie, Louisa Dal Cengio, Hailey Findlay-Black, Crystal N. Doty, Bethany Fitsimmons, E. Swayze, P. Seth, L. Raymond, C. Frank Bennett, M. Hayden   +18 more
semanticscholar   +1 more source

Astrocytes and Huntington’s Disease

ACS Chemical Neuroscience, 2014
In this Viewpoint, we summarize and discuss the recent serendipitous discovery of an astrocyte Kir4.1 potassium channel dysfunction in two mouse models of Huntington's disease (HD). Restoration of Kir4.1 channels within astrocytes in vivo attenuated neuronal dysfunction, some aspects of motor dysfunction and increased survival time in a HD mouse model.
Khakh, Baljit S, Sofroniew, Michael V
openaire   +5 more sources