Results 41 to 50 of about 6,618 (141)

The kabod Spring 2016 [PDF]

, 2016
Completed issue of article publications for Spring ...

core   +1 more source

Why we age

Biological Reviews, EarlyView.
ABSTRACT Three categories of explanations exist for why we age: mechanistic theories, which omit reference to evolutionary forces; weakening force of selection theories, which posit that barriers exist that prevent evolutionary forces from optimising fitness in ageing; and optimisation theories, which posit that evolutionary forces actually select for ...
Michael S. Ringel
wiley   +1 more source

Huntington\u27s Disease--A Review [PDF]

, 2016
Huntington’s disease is degenerative and effects both cognitive and motor functioning, beginning in the 20s and continuing a decline for about two decades until death.
Dunn, Christen
core   +1 more source

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission [PDF]

, 2015
Defects of mitochondrial dynamics are emerging causes of neurological disease. In two children presenting with severe neurological deterioration following viral infection we identified a novel homozygous STAT2 mutation, c.1836C4A (p.Cys612Ter), using ...
Anderson, G, Cale, CM, Chalasani, A, Chan, E, Duchen, MR, Gilmour, KC, Hambleton, S, Jacques, S, Osellame, LD, Plagnol, V, Qasim, W, Rahman, S, Shahni, R, Taanman, JW, Wadatilake, Y   +14 more
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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

Common dysregulation network in the human prefrontal cortex underlies two neurodegenerative diseases. [PDF]

, 2014
Using expression profiles from postmortem prefrontal cortex samples of 624 dementia patients and non-demented controls, we investigated global disruptions in the co-regulation of genes in two neurodegenerative diseases, late-onset Alzheimer's disease (AD)
Casaccia, Patrizia, Emilsson, Valur, Fan, Guoping, Huynh, Jimmy L, Johnson, Andrew D, Lamb, John R, McElwee, Joshua, Melquist, Stacey, Molony, Cliona, Narayanan, Manikandan, Schadt, Eric E, Stone, David J, Suver, Christine, Wang, Kai, Xie, Tao, Yang, Xia, Yoo, Seungyeul, Zhang, Bin, Zhang, Chunsheng, Zhu, Jun   +19 more
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Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat

Brazilian Journal of Medical and Biological Research, 2006
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that affects the striatum most severely. However, except for juvenile forms, relative preservation of the cerebellum has been reported.
H.H. Ruocco, I. Lopes-Cendes, L.M. Li, M. Santos-Silva, F. Cendes   +4 more
doaj   +1 more source

Progression of motor subtypes in Huntington’s disease. a 6-year follow-up study [PDF]

, 2016
The objective of this study is to investigate the progression of predominantly choreatic and hypokinetic-rigid signs in Huntington's disease (HD) and their relationship with cognitive and general functioning over time.
Bentivoglio, A. R., Burgunder, J. M., Craufurd, D., Ferraldeschi, Michela, Hart, E. P., Jacobs, M, Reilmann, R., Ristori, Giovanni, Romano, Silvia, Roos, R. A. C., Saft, C., The REGISTRY, investigators of the European Huntington’s Disease Network, van Zwet, E. W.   +12 more
core   +2 more sources

Economic Cost of Current and Alternative Models of Multidisciplinary Care of Juvenile‐Onset Huntington's Disease

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Multidisciplinary care has been advocated for Juvenile‐onset Huntington's Disease but there has been no detailed analysis of this. Objectives To evaluate the current economic costs of providing health care for patients with Juvenile‐onset Huntington's disease (JoHD) and to model the effects and economic costs of providing a ...
Tracey A. Young, Penny A. Curtis, Jill Thompson, Aileen K. Ho, Helen Santini, Oliver W. Quarrell   +5 more
wiley   +1 more source

The CAG repeat at the Huntington disease gene in the Portuguese population : insights into its dynamics and to the origin of the mutation [PDF]

, 2006
Huntington disease (HD) is caused by an expansion of a CAG repeat. This repeat is a dynamic mutation that tends to undergo intergenerational instability.
Alda Sousa, AM Andrés, B Kremer, DC Rubinsztein, EW Almqvist, F Squitieri, HL Paulson, I Vuillaume, JB Martin, Jorge Sequeiros, Laura Guimarães, M Cossée, M Duyao, M Raymond, Maria do Carmo Costa, MC Costa, N Masuda, Patrícia Maciel, Paula Magalhães, S Pramanik, SE Andrew, SE Andrew, SW Guo, The, The, WS Watkins, YP Goldberg, YP Goldberg   +27 more
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