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Over the past 6 years, researchers have focused on identifying the mechanism by which the expanded polyglutamine tract renders a protein toxic to a subset of vulnerable neurons. In this review, we summarize the clinicopathologic features of these disorders (spinobulbar muscular atrophy, Huntington disease, and the spinocerebellar ataxias, including dentatorubropallidoluysian atrophy), describe the genes involved and what is known about their products, and discuss the model systems that have lent insight into pathogenesis. The review concludes with a model for pathogenesis that illuminates the unifying features of these polyglutamine disorders. 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Expansion of the (CAG)nrepeat causing Huntington’s disease in 352 patients of German origin.Hum. Mol. Genet.2(9):1467–69",{"doi":1373},"10.1093\u002Fhmg\u002F2.9.1467",{"id":1375,"createTime":1376,"updateTime":1376,"relativeEntities":1377,"slug":1378,"properties":1379,"entityType":107,"verifyStatus":108,"verifyTime":1376,"verifyNote":109,"languages":1392,"translateLanguages":24,"viewCount":25,"primaryUrl":1393,"fullTextUrl":24,"authors":1394,"publicationType":151,"publisherRelationship":1433,"citationCount":1478,"citationInfo":1479,"publishDate":1486,"publishYear":1480,"citationAnalyzeStatus":23,"lastCitationAnalyze":24,"indexDatabases":1487,"openAccess":24,"references":1488,"isForceReanalyzing":225},"48ca6ae0-6845-460e-b232-35245bf3728f","2025-02-03T10:43:04.694+00:00",[],"Development-of-Neural-Systems-for-Reading",{"openalex":1380,"mag":1382,"abstract":1384,"title":1386,"pm":1388,"doi":1390},{"VOID":1381},"W2108666827",{"VOID":1383},"2108666827",{"EN":1385},"\u003Cjats:p> Functional and structural neuroimaging studies of adult readers have provided a deeper understanding of the neural basis of reading, yet such findings also elicit new questions about how developing neural systems come to support this learned ability. A developmental cognitive neuroscience approach provides insights into how skilled reading emerges in the developing brain, yet also raises new methodological challenges. This review focuses on functional changes that occur during reading acquisition in cortical regions associated with both the perception of visual words and spoken language, and it examines how such functional changes differ within developmental reading disabilities. We integrate these findings within an interactive specialization framework of functional development and propose that such a framework may provide insights into how individual differences at several levels of observation (genetics, white matter tract structure, functional organization of language, cultural organization of writing systems) impact the emergence of neural systems involved in reading ability and disability. \u003C\u002Fjats:p>",{"EN":1387},"Development of Neural Systems for Reading",{"VOID":1389},"17600524",{"VOID":1391},"10.1146\u002Fannurev.neuro.28.061604.135645",[111],"https:\u002F\u002Fwww.annualreviews.org\u002Fdoi\u002F10.1146\u002Fannurev.neuro.28.061604.135645",[1395,1414],{"id":1396,"sortIndex":25,"researcher":24,"roles":1397,"affiliations":1398,"properties":1407},"56a4545c-f362-4973-8f1d-19e5c93d1861",[],[1399],{"id":1400,"sortIndex":25,"affiliation":1401,"properties":24},"bedb6f62-0410-4018-a033-8f76bbb0321b",{"id":1400,"createTime":24,"updateTime":24,"relativeEntities":1402,"slug":24,"properties":1403,"entityType":24,"verifyStatus":24,"verifyTime":24,"verifyNote":24,"languages":24,"translateLanguages":24,"viewCount":24,"url":24,"parentIds":1406,"statistic":24},[],{"title":1404},{"EN":1405},"Departments of Neurology, Radiology, Anatomy & Neurobiology, and Pediatrics, 1Washington University School of Medicine, St. Louis, Missouri 63110;",[],{"orcid":1408,"title":1410,"openalex":1412},{"VOID":1409},"https:\u002F\u002Forcid.org\u002F0000-0002-9246-2469",{"EN":1411},"Bradley L. 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Biol., 202, 1357, 10.1242\u002Fjeb.202.10.1357",{"doi":2142},"10.1242\u002Fjeb.202.10.1357",{"id":24,"text":2144,"url":24,"identifiers":2145},"10.1016\u002F0006-8993(80)90067-0",{"doi":2144},{"id":24,"text":2147,"url":24,"identifiers":2148},"10.1016\u002F0304-3940(82)90225-7",{"doi":2147},{"id":24,"text":2150,"url":24,"identifiers":2151},"10.1002\u002Fcne.902780409",{"doi":2150},{"id":24,"text":2153,"url":24,"identifiers":2154},"10.1016\u002F0165-0173(83)90003-6",{"doi":2153},{"id":24,"text":2156,"url":24,"identifiers":2157},"Bullock TH, 1986, Electroreception",{},{"id":24,"text":2159,"url":24,"identifiers":2160},"10.1007\u002F0-387-28275-0",{"doi":2159},{"id":24,"text":2162,"url":24,"identifiers":2163},"10.1016\u002F0304-3940(88)90329-1",{"doi":2162},{"id":24,"text":2165,"url":24,"identifiers":2166},"10.1016\u002F0304-3940(92)90020-8",{"doi":2165},{"id":24,"text":2168,"url":24,"identifiers":2169},"10.1002\u002F1521-1878(200009)22:9\u003C846::AID-BIES10>3.0.CO;2-R",{"doi":2168},{"id":24,"text":2171,"url":24,"identifiers":2172},"10.1002\u002Fcne.903280305",{"doi":2171},{"id":24,"text":2174,"url":24,"identifiers":2175},"10.1002\u002Fcne.21334",{"doi":2174},{"id":24,"text":2177,"url":24,"identifiers":2178},"10.1007\u002F978-1-4612-4416-5_3",{"doi":2177},{"id":24,"text":2180,"url":24,"identifiers":2181},"10.1016\u002FS0928-4257(03)00005-6",{"doi":2180},{"id":24,"text":2183,"url":24,"identifiers":2184},"Carr CE, Maler L. 1986. 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Hypocretin-containing neurons have widespread projections throughout the CNS with particularly dense excitatory projections to monoaminergic centers such as the noradrenergic locus coeruleus, histaminergic tuberomammillary nucleus, serotoninergic raphe nucleus, and dopaminergic ventral tegmental area. The hypocretins were originally believed to be primarily important in the regulation of appetite; however, a major function emerging from research on these neuropeptides is the regulation of sleep and wakefulness. Deficiency in hypocretin neurotransmission results in the sleep disorder narcolepsy in mice, dogs, and humans. The hypocretins are also uniquely positioned to link sleep, appetite, and neuroendocrine control. The aim of this review is to describe and discuss the current knowledge regarding the hypocretin neurotransmitter system in narcolepsy and normal sleep. \u003C\u002Fjats:p>",{"EN":2501},"The Role of Hypocretins (Orexins) in Sleep Regulation and Narcolepsy",{"VOID":2503},"12052911",{"VOID":2505},"10.1146\u002Fannurev.neuro.25.112701.142826",[111],"https:\u002F\u002Fwww.annualreviews.org\u002Fdoi\u002F10.1146\u002Fannurev.neuro.25.112701.142826",[2509,2528,2545],{"id":2510,"sortIndex":25,"researcher":24,"roles":2511,"affiliations":2512,"properties":2521},"1daa20fb-e096-47d1-ad11-e6c35a59cbca",[],[2513],{"id":2514,"sortIndex":25,"affiliation":2515,"properties":24},"4cdf13bc-69b4-4fa4-9d3d-96fc0ec2fcaf",{"id":2514,"createTime":24,"updateTime":24,"relativeEntities":2516,"slug":24,"properties":2517,"entityType":24,"verifyStatus":24,"verifyTime":24,"verifyNote":24,"languages":24,"translateLanguages":24,"viewCount":24,"url":24,"parentIds":2520,"statistic":24},[],{"title":2518},{"EN":2519},"Stanford University Center for Narcolepsy, 701 Welch Road B, Basement, Palo Alto, California 94304-5742;",[],{"orcid":2522,"title":2524,"openalex":2526},{"VOID":2523},"https:\u002F\u002Forcid.org\u002F0000-0001-8314-1500",{"EN":2525},"Shahrad Taheri",{"VOID":2527},"A5001827219",{"id":2529,"sortIndex":133,"researcher":24,"roles":2530,"affiliations":2531,"properties":2538},"f6a07e75-3d1c-412d-ba97-4cfa0241a4f1",[],[2532],{"id":2514,"sortIndex":25,"affiliation":2533,"properties":24},{"id":2514,"createTime":24,"updateTime":24,"relativeEntities":2534,"slug":24,"properties":2535,"entityType":24,"verifyStatus":24,"verifyTime":24,"verifyNote":24,"languages":24,"translateLanguages":24,"viewCount":24,"url":24,"parentIds":2537,"statistic":24},[],{"title":2536},{"EN":2519},[],{"orcid":2539,"title":2541,"openalex":2543},{"VOID":2540},"https:\u002F\u002Forcid.org\u002F0000-0001-6174-5282",{"EN":2542},"Jamie M. 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Our framework has been both elaborated and expanded in subsequent years. Research on orienting and executive functions has supported the addition of new networks of brain regions. Developmental studies have shown important changes in control systems between infancy and childhood. In some cases, evidence has supported the role of specific genetic variations, often in conjunction with experience, that account for some of the individual differences in the efficiency of attentional networks. 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