Results 51 to 60 of about 57,910 (287)

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +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, 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, 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   +241 more
  +15 more sources

Differential effects of Alzheimer\u27s disease and Huntington\u27s disease on the performance of mental rotation [PDF]

, 2005
he ability to spatially rotate a mental image was compared in patients with Alzheimer\u27s disease (AD; n = 18) and patients with Huntington\u27s disease (HD; n = 18). Compared to their respective age-matched normal control (NC) group, the speed, but not
Bondi, Mark W., Corey-Bloom, Jody, Lineweaver, Tara T., Salmon, David P.   +3 more
core   +1 more source

New Aspects of Thromboangiitis obliterans (von Winiwarter-Buerger's Disease) [PDF]

, 1984
The existence of thromboangiitis obliterans as a clinical entity has been a matter of debate for many years. In contrast to other immunovasculitides there is no organ involvement while peripheral vessels are affected.
Berlit, Peter, Kessler, C., Krause, Klaus-Henning, Reuther, R.   +3 more
core   +1 more source

Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett, Abigail Dubois, Melanie Leguizamon, Alexander Song, Paula Trujillo, Colin D. McKnight, Ciaran M. Considine, Manus J. Donahue, Daniel O. Claassen   +8 more
wiley   +1 more source

Malestar psicológico en portadores y no portadores de la mutación causante de enfermedad de Huntington y su relación con la carga de la enfermedad

Neurología
Resumen: Introducción: La enfermedad de Huntington (EH) es un trastorno neurodegenerativo y hereditario. A partir del diagnóstico predictivo se han descrito características clínicas incipientes en la fase prodrómica, y varios estudios han reportado ...
Y. Rodríguez-Agudelo, M. Chávez-Oliveros, A. Ochoa-Morales, L. Martínez-Ruano, A. Camacho-Molina, F. Paz-Rodríguez   +5 more
doaj   +1 more source

Effects 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 more
core  

An expanding range of targets for kynurenine metabolites of tryptophan [PDF]

, 2013
The kynurenine pathway of tryptophan metabolism accounts for most of the tryptophan that is not committed to protein synthesis and includes compounds active in the nervous and immune systems.
Darlington, L. Gail, Stone, Trevor W., Stoy, Nicholas   +2 more
core   +1 more source

Nanodiamond Quantum Sensors for Probing Free Radical Biology

Advanced Functional Materials, EarlyView.
Free radicals play key roles in cellular signaling and disease but remain difficult to measure in living systems. Nanodiamonds (NDs) with nitrogen‐vacancy (NV) centers enable quantum sensing of local magnetic noise via T₁ relaxometry, providing nondestructive radical detection in living cells.
Qi Lu, Yingke Wu, Tanja Weil
wiley   +1 more source

Hydrogen Isotope Exchange in Pyridine Catalyzed by an Iron(II) Imido Complex: Counterion‐Directed Regioselectivity

Angewandte Chemie, EarlyView.
Anionic high‐spin iron(II) imido complexes are catalysts for the hydrogen isotope exchange (HIE) reaction with pyridine as the substrate. The alkali metal counter‐cation plays critical roles in activating the substrate and facilitating deuteration. These complexes catalyze site‐selective α‐, α,β,γ‐, and β,γ‐deuteration of pyridine, where the counter ...
Bin Feng, Guorong Li, Yafei Gao, Nobuyuki Yamamoto, Maren Pink, Qian Peng, Jeremy M. Smith   +6 more
wiley   +2 more sources