Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
Guo, Long, Bertola, Débora Romeo, Takanohashi, Asako, Saito, Asuka, Segawa, Yuko, Yokota, Takanori, Ishibashi, Satoru, Nishida, Yoichiro, Yamamoto, Guilherme Lopes, Franco, José Francisco da Silva, Honjo, Rachel Sayuri, Kim, Chong Ae, Musso, Camila Manso, Timmons, Margaret, Pizzino, Amy, Taft, Ryan J., Lajoie, Bryan, Knight, Melanie A., Fischbeck, Kenneth H., Singleton, Andrew B., Ferreira, Carlos R., Wang, Zheng, Yan, Li, Garbern, James Y., Simsek-Kiper, Pelin O., Ohashi, Hirofumi, Robey, Pamela G., Boyde, Alan, Matsumoto, Naomichi, Miyake, Noriko, Spranger, Jürgen, Schiffmann, Raphael, Vanderver, Adeline, Nishimura, Gen, Passos-Bueno, Maria Rita dos Santos, Simons, Cas, Ishikawa, Kinya, Ikegawa, Shiro
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies
Nalls, Michael A, Duran, Raquel, Lopez, Grisel, Kurzawa-Akanbi, Marzena, McKeith, Ian G, Chinnery, Patrick F, Morris, Christopher M, Theuns, Jessie, Crosiers, David, Cras, Patrick, Engelborghs, Sebastiaan, De Deyn, Peter Paul, Van Broeckhoven, Christine, Mann, David M A, Snowden, Julie, Pickering-Brown, Stuart, Halliwell, Nicola, Davidson, Yvonne, Gibbons, Linda, Harris, Jenny, Sheerin, Una-Marie, Bras, Jose, Hardy, John, Clark, Lorraine, Marder, Karen, Honig, Lawrence S, Berg, Daniela, Maetzler, Walter, Brockmann, Kathrin, Gasser, Thomas, Novellino, Fabiana, Quattrone, Aldo, Annesi, Grazia, De Marco, Elvira Valeria, Rogaeva, Ekaterina, Masellis, Mario, Black, Sandra E, Bilbao, Juan M, Foroud, Tatiana, Ghetti, Bernardino, Nichols, William C, Pankratz, Nathan, Halliday, Glenda, Lesage, Suzanne, Klebe, Stephan, Durr, Alexandra, Duyckaerts, Charles, Brice, Alexis, Giasson, Benoit I, Trojanowski, John Q, Hurtig, Howard I, Tayebi, Nahid, Landazabal, Claudia, Knight, Melanie A, Keller, Margaux, Singleton, Andrew B, Wolfsberg, Tyra G, Sidransky, Ellen
Published in JAMA neurology (01.06.2013)
Published in JAMA neurology (01.06.2013)
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HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS
Taylor, J. Paul, Pandey, Udai Bhan, Nie, Zhiping, Batlevi, Yakup, McCray, Brett A, Ritson, Gillian P, Nedelsky, Natalia B, Schwartz, Stephanie L, DiProspero, Nicholas A, Knight, Melanie A, Schuldiner, Oren, Padmanabhan, Ranjani, Hild, Marc, Berry, Deborah L, Garza, Dan, Hubbert, Charlotte C, Yao, Tso-Pang, Baehrecke, Eric H
Published in Nature (14.06.2007)
Published in Nature (14.06.2007)
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Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
Avila, Amy M, Burnett, Barrington G, Taye, Addis A, Gabanella, Francesca, Knight, Melanie A, Hartenstein, Parvana, Cizman, Ziga, Di Prospero, Nicholas A, Pellizzoni, Livio, Fischbeck, Kenneth H, Sumner, Charlotte J
Published in The Journal of clinical investigation (01.03.2007)
Published in The Journal of clinical investigation (01.03.2007)
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Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
van de Leemput, Joyce, Chandran, Jayanth, Knight, Melanie A, Holtzclaw, Lynne A, Scholz, Sonja, Cookson, Mark R, Houlden, Henry, Gwinn-Hardy, Katrina, Fung, Hon-Chung, Lin, Xian, Hernandez, Dena, Simon-Sanchez, Javier, Wood, Nick W, Giunti, Paola, Rafferty, Ian, Hardy, John, Storey, Elsdon, Gardner, R J McKinlay, Forrest, Susan M, Fisher, Elizabeth M C, Russell, James T, Cai, Huaibin, Singleton, Andrew B
Published in PLoS genetics (01.06.2007)
Published in PLoS genetics (01.06.2007)
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Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance
Mochel, Fanny, Knight, Melanie A., Tong, Wing-Hang, Hernandez, Dena, Ayyad, Karen, Taivassalo, Tanja, Andersen, Peter M., Singleton, Andrew, Rouault, Tracey A., Fischbeck, Kenneth H., Haller, Ronald G.
Published in American journal of human genetics (01.03.2008)
Published in American journal of human genetics (01.03.2008)
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A candidate gene for autoimmune myasthenia gravis
Landouré, Guida, Knight, Melanie A, Stanescu, Horia, Taye, Addis A, Shi, Yijun, Diallo, Oumarou, Johnson, Janel O, Hernandez, Dena, Traynor, Bryan J, Biesecker, Leslie G, Elkahloun, Abdel, Rinaldi, Carlo, Vincent, Angela, Willcox, Nick, Kleta, Robert, Fischbeck, Kenneth H, Burnett, Barrington G
Published in Neurology (24.07.2012)
Published in Neurology (24.07.2012)
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A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20
Knight, Melanie A., Hernandez, Dena, Diede, Scott J., Dauwerse, Hans G., Rafferty, Ian, van de Leemput, Joyce, Forrest, Susan M., Gardner, R.J.McKinlay, Storey, Elsdon, van Ommen, Gert-Jan B., Tapscott, Stephen J., Fischbeck, Kenneth H., Singleton, Andrew B.
Published in Human molecular genetics (15.12.2008)
Published in Human molecular genetics (15.12.2008)
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Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20
Knight, Melanie A., McKinlay Gardner, R. J., Bahlo, Melanie, Matsuura, Tohru, Dixon, Judith A., Forrest, Susan M., Storey, Elsdon
Published in Brain (London, England : 1878) (01.05.2004)
Published in Brain (London, England : 1878) (01.05.2004)
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Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: : exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant
Knight, Melanie A, Kennerson, Marina L, Anney, Richard J, Matsuura, Tohru, Nicholson, Garth A, Salimi-Tari, Peyman, Gardner, R.J.McKinlay, Storey, Elsdon, Forrest, Susan M
Published in Neurobiology of disease (01.07.2003)
Published in Neurobiology of disease (01.07.2003)
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Spinocerebellar ataxia type 15
Gardner, R J McKinlay, Knight, Melanie A, Hara, Kenju, Tsuji, Shoji, Forrest, Susan M, Storey, Elsdon
Published in Cerebellum (London, England) (01.01.2005)
Published in Cerebellum (London, England) (01.01.2005)
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Spinocerebellar ataxia type 20
Storey, Elsdon, Knight, Melanie A, Forrest, Susan M, Gardner, R J McKinlay
Published in Cerebellum (London, England) (01.01.2005)
Published in Cerebellum (London, England) (01.01.2005)
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