Results 111 to 120 of about 9,130,139 (414)

MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

Brain : a journal of neurology, 2019
A genome-wide association study recently identified an MSH3/DHFR locus associated with Huntington’s disease progression. Flower, Lomeikaite et al. identify tandem repeat variants at this locus, and show that a three-repeat allele is associated with ...
M. Flower, Vilija Lomeikaite, Marc Ciosi, S. Cumming, F. Morales, K. Lo, Davina J. Hensman Moss, L. Jones, P. Holmans, D. Monckton, S. Tabrizi, P. Kraus, Rainer Hoffman, Alan Tobin, B. Borowsky, S. Keenan, K. Whitlock, S. Queller, Colin Campbell, Chiachi Wang, D. Langbehn, E. Axelson, H. Johnson, T. Acharya, D. Cash, C. Frost, Rebecca Jones, C. Jurgens, E. 't Hart, J. van der Grond, Marie-Noelle N Witjes- Ane, R. Roos, E. Dumas, S. V. D. van den Bogaard, C. Stopford, D. Craufurd, J. Callaghan, N. Arran, D. Rosas, S. Lee, W. Monaco, A. O'Regan, C. Milchman, E. Frajman, I. Labuschagne, J. Stout, M. Campbell, S. Andrews, N. Bechtel, R. Reilmann, S. Bohlen, C. Kennard, C. Berna, S. Hicks, A. Durr, C. Pourchot, É. Bardinet, K. Nigaud, Romain Valabré, `. gue, S. Lehéricy, C. Marelli, C. Jauffret, D. Justo, B. Leavitt, J. Decolongon, A. Sturrock, A. Coleman, R. D. Santos, A. Patel, C. Gibbard, D. Whitehead, E. Wild, G. Owen, H. Crawford, I. Malone, N. Lahiri, Nick C Fox, N. Hobbs, R. Scahill, R. Ordidge, T. Pepple, J. Read, M. Say, B. Landwehrmeyer, F. Daidj, G. Bassez, Baptiste Lignier, Florence Couppey, Stéphanie Delmas, J. Deux, K. Hankiewicz, C. Dogan, Lisa Minier, P. Chevalier, Amira Hamadouche, M. Catt, V. V. van Hees, Sharon D. Catt, A. Schwalber, Juliane Dittrich, M. Kierkegaard, S. Wenninger, B. Schoser, A. Schüller, K. Stahl, H. Künzel, Martin Wolff, Annamirl Jellinek, Cecilia Moreno, G. Gorman, H. Lochmüller, M. Trenell, S. van Laar, L. Wood, Sophie Cassidy, J. Newman, S. Charman, Renae Steffaneti, Louise A. Taylor, A. Brownrigg, Sharon Day, A. Atalaia, J. Raaphorst, K. Okkersen, B. V. van Engelen, S. Nikolaus, Yvonne Cornelissen, M. van Nimwegen, D. Maas, Ellen Klerks, Sacha Bouman, H. Knoop, L. Heskamp, A. Heerschap, R. Rahmadi, P. Groot, T. Heskes, K. Kapusta, J. Glennon, Shaghayegh Abghari, A. Aschrafi, G. Poelmans, S. Treweek, Fiona Hogarth, R. Littleford, P. Donnan, A. Hapca, M. Hannah, E. Mckenzie, P. Rauchhaus, S. Cumming, D. Monckton, B. Adam, C. Faber, I. Merkies   +155 more
semanticscholar   +1 more source

Suicidality in Huntington's disease

Journal of Affective Disorders, 2012
In Huntington's disease (HD) the risk of suicide is increased. Since suicidality may precede suicide, this study investigates prevalence, clinical associations and predictors of suicidality in HD.Suicidality was investigated in 152 mutation carriers and 56 non-carriers, and was considered present if the score on the item 'suicidal ideation' of the ...
Hubers, A.A.M., Reedeker, N., Giltay, E.J., Roos, R.A.C., Duijn, E. van, Mast, R.C. van der   +5 more
openaire   +6 more sources

Solving the Amyloid Paradox: Unveiling the Complex Pathogenicity of Amyloid Fibrils

Aggregate, EarlyView.
This review addresses the gap between strong evidence for the involvement of amyloid fibrils in neurodegeneration and the failure of anti‐amyloid therapies, a phenomenon herein termed the “amyloid paradox.” To address this paradox, we provide a comprehensive summary of the current understanding of fibrils' pathogenic properties and mechanisms ...
Maksim I. Sulatsky, Olesya V. Stepanenko, Olga V. Stepanenko, Anna I. Sulatskaya   +3 more
wiley   +1 more source

A Right to Choose?: Sex Selection in the International Context [PDF]

, 2007
While there is some debate among doctors, ethicists, and the general public about the level of medical necessity that should justify a sex-selection procedure, most accept that sex selection for medical reasons is beyond ethical reproach, and in some ...
Bumgarner, Ashley
core   +2 more sources

Clinical and Epidemiological Aspects of Huntington Disease in the Republic of Tatarstan

Анналы клинической и экспериментальной неврологии, 2020
his study aimed to evaluate the epidemiological features ofHuntington disease (HD), based on data from the Centre for Extrapyramidal Pathology and Botulinum Toxin Therapy of theRepublic ofTatarstan. Materials and methods.
Sabina E. Munasipova, Zuleykha A. Zalyalova   +1 more
doaj   +1 more source

Striatal neurons directly converted from Huntington’s disease patient fibroblasts recapitulate age-associated disease phenotypes

Nature Neuroscience, 2018
In Huntington’s disease (HD), expansion of CAG codons in the huntingtin gene (HTT) leads to the aberrant formation of protein aggregates and the differential degeneration of striatal medium spiny neurons (MSNs).
Matheus B. Victor, M. Richner, Hannah E. Olsen, Seong Won Lee, A. M. Monteys, Chunyu Ma, Christine J. Huh, Bo Zhang, B. Davidson, B. Davidson, X. W. Yang, A. Yoo   +11 more
semanticscholar   +1 more source

Enfermedad de Huntington: estado del arte [PDF]

, 2014
La enfermedad de Huntington es un desorden monogenético autosómico dominante, que genera un trastorno neurodegenerativo caracterizado por la pérdida de neuronas en diferentes partes del cerebro.
Rodas Sepúlveda, Carlos Daniel, Sierra García, Natalia   +1 more
core  

A fruitful fly forward : the role of the fly in drug discovery for neurodegeneration [PDF]

, 2014
AD, Alzheimer’s disease; APP, amyloid precursor protein; BBB, blood brain barrier; GFP, green fluorescent protein; HTS, high-throughput screening; HD, Huntington’s disease; LB, Lewy bodies; PD, Parkinson’s disease; PolyQ, Polyglutamine; RNAi, RNA ...
Briffa, Michelle, Cauchi, Ruben J., Vassallo, Neville   +2 more
core   +1 more source

The Prevalence of Huntington's Disease [PDF]

Neuroepidemiology, 2016
<b><i>Background:</i></b> Reviews of the epidemiology of Huntington's disease (HD) suggest that its worldwide prevalence varies widely. This review was undertaken to confirm these observations, to assess the extent to which differences in case-ascertainment and/or diagnosis might be responsible, and to investigate whether the ...
Liam Smeeth, Stephen J. W. Evans, Alice Wexler, Michael D Rawlins, Nancy S. Wexler, Ian J. Douglas, Sarah J. Tabrizi   +6 more
openaire   +2 more sources

Alzheimer's Association clinical practice guideline for the Diagnostic Evaluation, Testing, Counseling, and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD‐ADRD): Executive summary of recommendations for primary care

Alzheimer's &Dementia, EarlyView.
Abstract US clinical practice guidelines for the diagnostic evaluation of cognitive impairment due to Alzheimer's disease (AD) or AD and related dementias (ADRD) are decades old and aimed at specialists. This evidence‐based guideline was developed to empower all—including primary care—clinicians to implement a structured approach for evaluating a ...
Alireza Atri, Bradford C. Dickerson, Carolyn Clevenger, Jason Karlawish, David Knopman, Pei‐Jung Lin, Mary Norman, Chiadi Onyike, Mary Sano, Susan Scanland, Maria Carrillo   +10 more
wiley   +1 more source