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  1. Artikel: Beyond Hospital Gates.

    Beach, Lucy E

    Mental welfare

    2017  Band 16, Heft 3, Seite(n) 49–59

    Sprache Englisch
    Erscheinungsdatum 2017-09-14
    Erscheinungsland England
    Dokumenttyp Journal Article
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: The C.A.M.W. Guardianship Scheme.

    Beach, Lucy E

    Mental welfare

    2017  Band 13, Heft 2, Seite(n) 29–38

    Sprache Englisch
    Erscheinungsdatum 2017-09-14
    Erscheinungsland England
    Dokumenttyp Journal Article
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Genome sequence analyses identify novel risk loci for multiple system atrophy.

    Chia, Ruth / Ray, Anindita / Shah, Zalak / Ding, Jinhui / Ruffo, Paola / Fujita, Masashi / Menon, Vilas / Saez-Atienzar, Sara / Reho, Paolo / Kaivola, Karri / Walton, Ronald L / Reynolds, Regina H / Karra, Ramita / Sait, Shaimaa / Akcimen, Fulya / Diez-Fairen, Monica / Alvarez, Ignacio / Fanciulli, Alessandra / Stefanova, Nadia /
    Seppi, Klaus / Duerr, Susanne / Leys, Fabian / Krismer, Florian / Sidoroff, Victoria / Zimprich, Alexander / Pirker, Walter / Rascol, Olivier / Foubert-Samier, Alexandra / Meissner, Wassilios G / Tison, François / Pavy-Le Traon, Anne / Pellecchia, Maria Teresa / Barone, Paolo / Russillo, Maria Claudia / Marín-Lahoz, Juan / Kulisevsky, Jaime / Torres, Soraya / Mir, Pablo / Periñán, Maria Teresa / Proukakis, Christos / Chelban, Viorica / Wu, Lesley / Goh, Yee Y / Parkkinen, Laura / Hu, Michele T / Kobylecki, Christopher / Saxon, Jennifer A / Rollinson, Sara / Garland, Emily / Biaggioni, Italo / Litvan, Irene / Rubio, Ileana / Alcalay, Roy N / Kwei, Kimberly T / Lubbe, Steven J / Mao, Qinwen / Flanagan, Margaret E / Castellani, Rudolph J / Khurana, Vikram / Ndayisaba, Alain / Calvo, Andrea / Mora, Gabriele / Canosa, Antonio / Floris, Gianluca / Bohannan, Ryan C / Moore, Anni / Norcliffe-Kaufmann, Lucy / Palma, Jose-Alberto / Kaufmann, Horacio / Kim, Changyoun / Iba, Michiyo / Masliah, Eliezer / Dawson, Ted M / Rosenthal, Liana S / Pantelyat, Alexander / Albert, Marilyn S / Pletnikova, Olga / Troncoso, Juan C / Infante, Jon / Lage, Carmen / Sánchez-Juan, Pascual / Serrano, Geidy E / Beach, Thomas G / Pastor, Pau / Morris, Huw R / Albani, Diego / Clarimon, Jordi / Wenning, Gregor K / Hardy, John A / Ryten, Mina / Topol, Eric / Torkamani, Ali / Chiò, Adriano / Bennett, David A / De Jager, Philip L / Low, Philip A / Singer, Wolfgang / Cheshire, William P / Wszolek, Zbigniew K / Dickson, Dennis W / Traynor, Bryan J / Gibbs, J Raphael / Dalgard, Clifton L / Ross, Owen A / Houlden, Henry / Scholz, Sonja W

    Neuron

    2024  

    Abstract: Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is poorly understood, and treatments are limited to supportive measures. Here, ... ...

    Abstract Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is poorly understood, and treatments are limited to supportive measures. Here, we performed a comprehensive analysis of whole genome sequence data from 888 European-ancestry MSA cases and 7,128 controls to systematically investigate the genetic underpinnings of this understudied neurodegenerative disease. We identified four significantly associated risk loci using a genome-wide association study approach. Transcriptome-wide association analyses prioritized USP38-DT, KCTD7, and lnc-KCTD7-2 as novel susceptibility genes for MSA within these loci, and single-nucleus RNA sequence analysis found that the associated variants acted as cis-expression quantitative trait loci for multiple genes across neuronal and glial cell types. In conclusion, this study highlights the role of genetic determinants in the pathogenesis of MSA, and the publicly available data from this study represent a valuable resource for investigating synucleinopathies.
    Sprache Englisch
    Erscheinungsdatum 2024-04-24
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 808167-0
    ISSN 1097-4199 ; 0896-6273
    ISSN (online) 1097-4199
    ISSN 0896-6273
    DOI 10.1016/j.neuron.2024.04.002
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Volltext online

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  4. Artikel ; Online: Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.

    Chia, Ruth / Sabir, Marya S / Bandres-Ciga, Sara / Saez-Atienzar, Sara / Reynolds, Regina H / Gustavsson, Emil / Walton, Ronald L / Ahmed, Sarah / Viollet, Coralie / Ding, Jinhui / Makarious, Mary B / Diez-Fairen, Monica / Portley, Makayla K / Shah, Zalak / Abramzon, Yevgeniya / Hernandez, Dena G / Blauwendraat, Cornelis / Stone, David J / Eicher, John /
    Parkkinen, Laura / Ansorge, Olaf / Clark, Lorraine / Honig, Lawrence S / Marder, Karen / Lemstra, Afina / St George-Hyslop, Peter / Londos, Elisabet / Morgan, Kevin / Lashley, Tammaryn / Warner, Thomas T / Jaunmuktane, Zane / Galasko, Douglas / Santana, Isabel / Tienari, Pentti J / Myllykangas, Liisa / Oinas, Minna / Cairns, Nigel J / Morris, John C / Halliday, Glenda M / Van Deerlin, Vivianna M / Trojanowski, John Q / Grassano, Maurizio / Calvo, Andrea / Mora, Gabriele / Canosa, Antonio / Floris, Gianluca / Bohannan, Ryan C / Brett, Francesca / Gan-Or, Ziv / Geiger, Joshua T / Moore, Anni / May, Patrick / Krüger, Rejko / Goldstein, David S / Lopez, Grisel / Tayebi, Nahid / Sidransky, Ellen / Norcliffe-Kaufmann, Lucy / Palma, Jose-Alberto / Kaufmann, Horacio / Shakkottai, Vikram G / Perkins, Matthew / Newell, Kathy L / Gasser, Thomas / Schulte, Claudia / Landi, Francesco / Salvi, Erika / Cusi, Daniele / Masliah, Eliezer / Kim, Ronald C / Caraway, Chad A / Monuki, Edwin S / Brunetti, Maura / Dawson, Ted M / Rosenthal, Liana S / Albert, Marilyn S / Pletnikova, Olga / Troncoso, Juan C / Flanagan, Margaret E / Mao, Qinwen / Bigio, Eileen H / Rodríguez-Rodríguez, Eloy / Infante, Jon / Lage, Carmen / González-Aramburu, Isabel / Sanchez-Juan, Pascual / Ghetti, Bernardino / Keith, Julia / Black, Sandra E / Masellis, Mario / Rogaeva, Ekaterina / Duyckaerts, Charles / Brice, Alexis / Lesage, Suzanne / Xiromerisiou, Georgia / Barrett, Matthew J / Tilley, Bension S / Gentleman, Steve / Logroscino, Giancarlo / Serrano, Geidy E / Beach, Thomas G / McKeith, Ian G / Thomas, Alan J / Attems, Johannes / Morris, Christopher M / Palmer, Laura / Love, Seth / Troakes, Claire / Al-Sarraj, Safa / Hodges, Angela K / Aarsland, Dag / Klein, Gregory / Kaiser, Scott M / Woltjer, Randy / Pastor, Pau / Bekris, Lynn M / Leverenz, James B / Besser, Lilah M / Kuzma, Amanda / Renton, Alan E / Goate, Alison / Bennett, David A / Scherzer, Clemens R / Morris, Huw R / Ferrari, Raffaele / Albani, Diego / Pickering-Brown, Stuart / Faber, Kelley / Kukull, Walter A / Morenas-Rodriguez, Estrella / Lleó, Alberto / Fortea, Juan / Alcolea, Daniel / Clarimon, Jordi / Nalls, Mike A / Ferrucci, Luigi / Resnick, Susan M / Tanaka, Toshiko / Foroud, Tatiana M / Graff-Radford, Neill R / Wszolek, Zbigniew K / Ferman, Tanis / Boeve, Bradley F / Hardy, John A / Topol, Eric J / Torkamani, Ali / Singleton, Andrew B / Ryten, Mina / Dickson, Dennis W / Chiò, Adriano / Ross, Owen A / Gibbs, J Raphael / Dalgard, Clifton L / Traynor, Bryan J / Scholz, Sonja W

    Nature genetics

    2021  Band 53, Heft 3, Seite(n) 294–303

    Abstract: The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, ... ...

    Abstract The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.
    Mesh-Begriff(e) Adaptor Proteins, Signal Transducing/genetics ; Alzheimer Disease/genetics ; Case-Control Studies ; Gene Expression Profiling ; Genetic Predisposition to Disease ; Genome, Human ; Genome-Wide Association Study ; Glucosylceramidase/genetics ; Humans ; Lewy Body Disease/genetics ; Nuclear Proteins/genetics ; Parkinson Disease/genetics ; Polymorphism, Single Nucleotide ; Tumor Suppressor Proteins/genetics ; alpha-Synuclein/genetics
    Chemische Substanzen Adaptor Proteins, Signal Transducing ; BIN1 protein, human ; Nuclear Proteins ; SNCA protein, human ; Tumor Suppressor Proteins ; alpha-Synuclein ; GBA protein, human (EC 3.2.1.45) ; Glucosylceramidase (EC 3.2.1.45)
    Sprache Englisch
    Erscheinungsdatum 2021-02-15
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Multicenter Study ; Research Support, N.I.H., Intramural
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-021-00785-3
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 3613: Hefte anzeigen Standort:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 46: Hefte anzeigen

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  5. Artikel ; Online: Retrotransposons Are the Major Contributors to the Expansion of the

    Leung, Wilson / Shaffer, Christopher D / Chen, Elizabeth J / Quisenberry, Thomas J / Ko, Kevin / Braverman, John M / Giarla, Thomas C / Mortimer, Nathan T / Reed, Laura K / Smith, Sheryl T / Robic, Srebrenka / McCartha, Shannon R / Perry, Danielle R / Prescod, Lindsay M / Sheppard, Zenyth A / Saville, Ken J / McClish, Allison / Morlock, Emily A / Sochor, Victoria R /
    Stanton, Brittney / Veysey-White, Isaac C / Revie, Dennis / Jimenez, Luis A / Palomino, Jennifer J / Patao, Melissa D / Patao, Shane M / Himelblau, Edward T / Campbell, Jaclyn D / Hertz, Alexandra L / McEvilly, Maddison F / Wagner, Allison R / Youngblom, James / Bedi, Baljit / Bettincourt, Jeffery / Duso, Erin / Her, Maiye / Hilton, William / House, Samantha / Karimi, Masud / Kumimoto, Kevin / Lee, Rebekah / Lopez, Darryl / Odisho, George / Prasad, Ricky / Robbins, Holly Lyn / Sandhu, Tanveer / Selfridge, Tracy / Tsukashima, Kara / Yosif, Hani / Kokan, Nighat P / Britt, Latia / Zoellner, Alycia / Spana, Eric P / Chlebina, Ben T / Chong, Insun / Friedman, Harrison / Mammo, Danny A / Ng, Chun L / Nikam, Vinayak S / Schwartz, Nicholas U / Xu, Thomas Q / Burg, Martin G / Batten, Spencer M / Corbeill, Lindsay M / Enoch, Erica / Ensign, Jesse J / Franks, Mary E / Haiker, Breanna / Ingles, Judith A / Kirkland, Lyndsay D / Lorenz-Guertin, Joshua M / Matthews, Jordan / Mittig, Cody M / Monsma, Nicholaus / Olson, Katherine J / Perez-Aragon, Guillermo / Ramic, Alen / Ramirez, Jordan R / Scheiber, Christopher / Schneider, Patrick A / Schultz, Devon E / Simon, Matthew / Spencer, Eric / Wernette, Adam C / Wykle, Maxine E / Zavala-Arellano, Elizabeth / McDonald, Mitchell J / Ostby, Kristine / Wendland, Peter / DiAngelo, Justin R / Ceasrine, Alexis M / Cox, Amanda H / Docherty, James E B / Gingras, Robert M / Grieb, Stephanie M / Pavia, Michael J / Personius, Casey L / Polak, Grzegorz L / Beach, Dale L / Cerritos, Heaven L / Horansky, Edward A / Sharif, Karim A / Moran, Ryan / Parrish, Susan / Bickford, Kirsten / Bland, Jennifer / Broussard, Juliana / Campbell, Kerry / Deibel, Katelynn E / Forka, Richard / Lemke, Monika C / Nelson, Marlee B / O'Keeffe, Catherine / Ramey, S Mariel / Schmidt, Luke / Villegas, Paola / Jones, Christopher J / Christ, Stephanie L / Mamari, Sami / Rinaldi, Adam S / Stity, Ghazal / Hark, Amy T / Scheuerman, Mark / Silver Key, S Catherine / McRae, Briana D / Haberman, Adam S / Asinof, Sam / Carrington, Harriette / Drumm, Kelly / Embry, Terrance / McGuire, Richard / Miller-Foreman, Drew / Rosen, Stella / Safa, Nadia / Schultz, Darrin / Segal, Matt / Shevin, Yakov / Svoronos, Petros / Vuong, Tam / Skuse, Gary / Paetkau, Don W / Bridgman, Rachael K / Brown, Charlotte M / Carroll, Alicia R / Gifford, Francesca M / Gillespie, Julie Beth / Herman, Susan E / Holtcamp, Krystal L / Host, Misha A / Hussey, Gabrielle / Kramer, Danielle M / Lawrence, Joan Q / Martin, Madeline M / Niemiec, Ellen N / O'Reilly, Ashleigh P / Pahl, Olivia A / Quintana, Guadalupe / Rettie, Elizabeth A S / Richardson, Torie L / Rodriguez, Arianne E / Rodriguez, Mona O / Schiraldi, Laura / Smith, Joanna J / Sugrue, Kelsey F / Suriano, Lindsey J / Takach, Kaitlyn E / Vasquez, Arielle M / Velez, Ximena / Villafuerte, Elizabeth J / Vives, Laura T / Zellmer, Victoria R / Hauke, Jeanette / Hauser, Charles R / Barker, Karolyn / Cannon, Laurie / Parsamian, Perouza / Parsons, Samantha / Wichman, Zachariah / Bazinet, Christopher W / Johnson, Diana E / Bangura, Abubakarr / Black, Jordan A / Chevee, Victoria / Einsteen, Sarah A / Hilton, Sarah K / Kollmer, Max / Nadendla, Rahul / Stamm, Joyce / Fafara-Thompson, Antoinette E / Gygi, Amber M / Ogawa, Emmy E / Van Camp, Matt / Kocsisova, Zuzana / Leatherman, Judith L / Modahl, Cassie M / Rubin, Michael R / Apiz-Saab, Susana S / Arias-Mejias, Suzette M / Carrion-Ortiz, Carlos F / Claudio-Vazquez, Patricia N / Espada-Green, Debbie M / Feliciano-Camacho, Marium / Gonzalez-Bonilla, Karina M / Taboas-Arroyo, Mariela / Vargas-Franco, Dorianmarie / Montañez-Gonzalez, Raquel / Perez-Otero, Joseph / Rivera-Burgos, Myrielis / Rivera-Rosario, Francisco J / Eisler, Heather L / Alexander, Jackie / Begley, Samatha K / Gabbard, Deana / Allen, Robert J / Aung, Wint Yan / Barshop, William D / Boozalis, Amanda / Chu, Vanessa P / Davis, Jeremy S / Duggal, Ryan N / Franklin, Robert / Gavinski, Katherine / Gebreyesus, Heran / Gong, Henry Z / Greenstein, Rachel A / Guo, Averill D / Hanson, Casey / Homa, Kaitlin E / Hsu, Simon C / Huang, Yi / Huo, Lucy / Jacobs, Sarah / Jia, Sasha / Jung, Kyle L / Wai-Chee Kong, Sarah / Kroll, Matthew R / Lee, Brandon M / Lee, Paul F / Levine, Kevin M / Li, Amy S / Liu, Chengyu / Liu, Max Mian / Lousararian, Adam P / Lowery, Peter B / Mallya, Allyson P / Marcus, Joseph E / Ng, Patrick C / Nguyen, Hien P / Patel, Ruchik / Precht, Hashini / Rastogi, Suchita / Sarezky, Jonathan M / Schefkind, Adam / Schultz, Michael B / Shen, Delia / Skorupa, Tara / Spies, Nicholas C / Stancu, Gabriel / Vivian Tsang, Hiu Man / Turski, Alice L / Venkat, Rohit / Waldman, Leah E / Wang, Kaidi / Wang, Tracy / Wei, Jeffrey W / Wu, Dennis Y / Xiong, David D / Yu, Jack / Zhou, Karen / McNeil, Gerard P / Fernandez, Robert W / Menzies, Patrick Gomez / Gu, Tingting / Buhler, Jeremy / Mardis, Elaine R / Elgin, Sarah C R

    G3 (Bethesda, Md.)

    2017  Band 7, Heft 8, Seite(n) 2439–2460

    Abstract: The discordance between genome size and the complexity of eukaryotes can partly be attributed to differences in repeat density. The Muller F element (∼5.2 Mb) is the smallest chromosome ... ...

    Abstract The discordance between genome size and the complexity of eukaryotes can partly be attributed to differences in repeat density. The Muller F element (∼5.2 Mb) is the smallest chromosome in
    Mesh-Begriff(e) Animals ; Base Composition/genetics ; Base Sequence ; Chromosomes/genetics ; Codon/genetics ; Drosophila/genetics ; Female ; Gene Expression Profiling ; Genes, Insect ; Histones/metabolism ; Protein Processing, Post-Translational/genetics ; Retroelements/genetics ; Wolbachia/genetics
    Chemische Substanzen Codon ; Histones ; Retroelements
    Sprache Englisch
    Erscheinungsdatum 2017-08-07
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 2629978-1
    ISSN 2160-1836 ; 2160-1836
    ISSN (online) 2160-1836
    ISSN 2160-1836
    DOI 10.1534/g3.117.040907
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Buch: Child life in Westminster

    Beach, Lucy E

    being a report on an enquiry as to how far the clauses of 'The Children's Charter' are being carried out within the City of Westminster, London

    1925  

    Verfasserangabe compiled by Lucy E. Beach
    Sprache Englisch
    Umfang 93 S.
    Verlag The World's Children
    Erscheinungsort London
    Dokumenttyp Buch
    Datenquelle Katalog der Technische Informationsbibliothek Hannover

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