Results 71 to 80 of about 127,473 (295)
Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT
Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira +11 morewiley +1 more sourcePSYCHIATRIC ASPECTS OF HUNTINGTON DISEASE – CASE REPORTS
Zdravniški Vestnik, 2004 Background. Huntington disease occurrs rarely, it can be encountered not only by neurologists and psychiatrists but also by other medical practitioners. Its characteristic features are involuntary movements, cognitive disorders and gradual development of Mirela Batta, Arijana Turčin, Blanka Kores Plesničar +2 moredoaj 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, Sorbi S, Abbruzzese G, Di Maria E, Mandich P, Albanese A, Di Bella D, Gellera C, Mariotti C, Rinaldi C, Russo CV, Cannella M, Catalli C, ROMANO, SILVIA, Frich J, Slawek J, Wójcik M, Janik P, Rakowicz M, Witkowski G, Januário C, Cavaco S, Gago M, Barrero F, Calopa M, Gorospe A, Mir P, Paucar M, Svenningsson P, Tedroff J, Kaelin A, Schüpbach M, Miedzybrodzka Z, Busse M, Rosser A, Lahiri N, Tabrizi S, Wild E +242 moreopenaire +11 more sourcesHigher sodium in older individuals or after stroke/reperfusion, but not in migraine or Alzheimer’s disease – a study in different preclinical models
Scientific ReportsSodium serves as one of the primary cations in the central nervous system, playing a crucial role in maintaining normal brain function. In this study, we investigated alterations in sodium concentrations in the brain and/or cerebrospinal fluid across ...Chenchen Xia, Wangde Dai, Juan Carreno, Andrea Rogando, Xiaomeng Wu, Darren Simmons, Natalie Astraea, Nathan F. Dalleska, Alfred N. Fonteh, Anju Vasudevan, Xianghong Arakaki, Robert A. Kloner +11 moredoaj +1 more sourceReduced cell size, chromosomal aberration and altered proliferation rates are characteristics and confounding factors in the STHdh cell model of Huntington disease
Scientific Reports, 2017 Huntington disease is a fatal neurodegenerative disorder caused by a CAG repeat expansion in the gene encoding the huntingtin protein. Expression of the mutant protein disrupts various intracellular pathways and impairs overall cell function.Elisabeth Singer, Carolin Walter, Jonasz J. Weber, Ann-Christin Krahl, Ulrike A. Mau-Holzmann, Nadine Rischert, Olaf Riess, Laura E. Clemensson, Huu P. Nguyen +8 moredoaj +1 more sourceMitochondrial and Redox Modifications in Huntington Disease Induced Pluripotent Stem Cells Rescued by CRISPR/Cas9 CAGs Targeting
Frontiers in Cell and Developmental Biology, 2020 Mitochondrial deregulation has gained increasing support as a pathological mechanism in Huntington’s disease (HD), a genetic-based neurodegenerative disorder caused by CAG expansion in the HTT gene. In this study, we thoroughly investigated mitochondrial-Carla Lopes, Carla Lopes, Yang Tang, Yang Tang, Sandra I. Anjo, Sandra I. Anjo, Bruno Manadas, Isabel Onofre, Isabel Onofre, Luís P. de Almeida, Luís P. de Almeida, George Q. Daley, George Q. Daley, George Q. Daley, George Q. Daley, Thorsten M. Schlaeger, Thorsten M. Schlaeger, Ana Cristina Carvalho Rego, Ana Cristina Carvalho Rego +18 moredoaj +1 more sourceEffects of flanking sequences and cellular context on subcellular behavior and pathology of mutant HTT [PDF]
, 2020 Huntington’s disease (HD) is caused by an expansion of a poly glutamine (polyQ) stretch in the huntingtin protein (HTT) that is necessary to cause pathology and formation of HTT aggregates.Agrawal, Namita, Barbaro, Brett A., Bornemann, Douglas J., Burke, John, Chin, Theodore M., Chongtham, Anjalika, Lukacsovich, Tamas, Marsh, J. Lawrence, Purcell, Judith, Syed, Adeela, Worthge, Shane +10 morecore Levodopa-responsive chorea: A review
Annals of Indian Academy of Neurology, 2020 Background: Chorea is one of the disabling movement disorders, and the number of drugs which can treat this disorder effectively is limited. Tetrabenazine and deutetrabenazine are the two drugs approved by the US-FDA for the treatment of chorea ...Mark Farrenburg, Harsh V Guptadoaj +1 more sourceTime-Restricted Feeding Improves Circadian Dysfunction as well as Motor Symptoms in the Q175 Mouse Model of Huntington's Disease. [PDF]
, 2018 Huntington's disease (HD) patients suffer from a progressive neurodegeneration that results in cognitive, psychiatric, cardiovascular, and motor dysfunction.Colwell, Christopher S, Cutler, Tamara, Howland, David, Loh, Dawn H, Wang, Huei-Bin, Whittaker, Daniel S +5 morecore +1 more source
