Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein (English)
- New search for: van Wijk, E.
- New search for: Kersten, F. F.
- New search for: Kartono, A.
- New search for: Mans, D. A.
- New search for: Brandwijk, K.
- New search for: Letteboer, S. J.
- New search for: Peters, T. A.
- New search for: Marker, T.
- New search for: Yan, X.
- New search for: Cremers, C. W.
- New search for: van Wijk, E.
- New search for: Kersten, F. F.
- New search for: Kartono, A.
- New search for: Mans, D. A.
- New search for: Brandwijk, K.
- New search for: Letteboer, S. J.
- New search for: Peters, T. A.
- New search for: Marker, T.
- New search for: Yan, X.
- New search for: Cremers, C. W.
In:
HUMAN MOLECULAR GENETICS
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18
, 1
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51-64
;
2009
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ISSN:
- Article (Journal) / Print
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Title:Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein
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Contributors:van Wijk, E. ( author ) / Kersten, F. F. ( author ) / Kartono, A. ( author ) / Mans, D. A. ( author ) / Brandwijk, K. ( author ) / Letteboer, S. J. ( author ) / Peters, T. A. ( author ) / Marker, T. ( author ) / Yan, X. ( author ) / Cremers, C. W. ( author )
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Published in:HUMAN MOLECULAR GENETICS ; 18, 1 ; 51-64
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Publisher:
- New search for: Oxford University Press
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Publication date:2009-01-01
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Size:14 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 572.8
- Further information on Dewey Decimal Classification
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Classification:
DDC: 572.8 -
Source:
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Table of contents – Volume 18, Issue 1
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1
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Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxiaCampanella, Alessandro / Rovelli, Elisabetta / Santambrogio, Paolo / Cozzi, Anna / Taroni, Franco / Levi, Sonia et al. | 2009
- 12
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Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout miceViscomi, Carlo / Spinazzola, Antonella / Maggioni, Marco / Fernandez-Vizarra, Erika / Massa, Valeria / Pagano, Claudio / Vettor, Roberto / Mora, Marina / Zeviani, Massimo et al. | 2009
- 27
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Mitochondrial abnormalities in spinal and bulbar muscular atrophyRanganathan, Srikanth / Harmison, George G. / Meyertholen, Kristin / Pennuto, Maria / Burnett, Barrington G. / Fischbeck, Kenneth H. et al. | 2009
- 43
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Hearing loss in a mouse model of Muenke syndromeMansour, Suzanne L. / Twigg, Stephen R.F. / Freeland, Rowena M. / Wall, Steven A. / Li, Chaoying / Wilkie, Andrew O.M. et al. | 2009
- 51
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Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like proteinvan Wijk, Erwin / Kersten, Ferry F.J. / Kartono, Aileen / Mans, Dorus A. / Brandwijk, Kim / Letteboer, Stef J.F. / Peters, Theo A. / Märker, Tina / Yan, Xiumin / Cremers, Cor W.R.J. et al. | 2009
- 65
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The conserved translocase Tim17 prevents mitochondrial DNA lossIacovino, Michelina / Granycome, Caroline / Sembongi, Hiroshi / Bokori-Brown, Monika / Butow, Ronald A. / Holt, Ian J. / Bateman, Joseph M. et al. | 2009
- 75
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PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activityMonnier, Carine / Dodé, Catherine / Fabre, Ludovic / Teixeira, Luis / Labesse, Gilles / Pin, Jean-Philippe / Hardelin, Jean-Pierre / Rondard, Philippe et al. | 2009
- 82
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Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosisCheroni, Cristina / Marino, Marianna / Tortarolo, Massimo / Veglianese, Pietro / De Biasi, Silvia / Fontana, Elena / Zuccarello, Laura Vitellaro / Maynard, Christa J. / Dantuma, Nico P. / Bendotti, Caterina et al. | 2009
- 82
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Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosisdaggerCheroni, C. / Marino, M. / Tortarolo, M. / Veglianese, P. / De Biasi, S. / Fontana, E. / Zuccarello, L. V. / Maynard, C. J. / Dantuma, N. P. / Bendotti, C. et al. | 2009
- 97
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Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespanBriese, Michael / Esmaeili, Behrooz / Fraboulet, Sandrine / Burt, Emma C. / Christodoulou, Stefanos / Towers, Paula R. / Davies, Kay E. / Sattelle, David B. et al. | 2009
- 105
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Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning trainingBianchi, Veronica / Farisello, Pasqualina / Baldelli, Pietro / Meskenaite, Virginia / Milanese, Marco / Vecellio, Matteo / Mühlemann, Sven / Lipp, Hans Peter / Bonanno, Giambattista / Benfenati, Fabio et al. | 2009
- 118
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Transcript- and tissue-specific imprinting of a tumour suppressor geneSchulz, Reiner / McCole, Ruth B. / Woodfine, Kathryn / Wood, Andrew J. / Chahal, Mandeep / Monk, David / Moore, Gudrun E. / Oakey, Rebecca J. et al. | 2009
- 128
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BEST1 expression in the retinal pigment epithelium is modulated by OTX family membersEsumi, Noriko / Kachi, Shu / Hackler, Laszlo / Masuda, Tomohiro / Yang, Zhiyong / Campochiaro, Peter A. / Zack, Donald J. et al. | 2009
- 142
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Congenital hydrocephalus associated with abnormal subcommissural organ in mice lacking huntingtin in Wnt1 cell lineagesDietrich, Paula / Shanmugasundaram, Revathi / E, Shuyu / Dragatsis, Ioannis et al. | 2009
- 151
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The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathwayHartman, Tiffiney R. / Liu, Dongyan / Zilfou, Jack T. / Robb, Victoria / Morrison, Tasha / Watnick, Terry / Henske, Elizabeth P. et al. | 2009
- 164
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Dissociation of tau toxicity and phosphorylation: role of GSK-3b, MARK and Cdk5 in a Drosophila modelChatterjee, S. / Sang, T. K. / Lawless, G. M. / Jackson, G. R. et al. | 2009
- 164
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Dissociation of tau toxicity and phosphorylation: role of GSK-3{beta}, MARK and Cdk5 in a Drosophila modelChatterjee, Shreyasi / Sang, Tzu-Kang / Lawless, George M. / Jackson, George R. et al. | 2009
- 178
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New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a geneSakamoto, Kenji / McCluskey, Michael / Wensel, Theodore G. / Naggert, Jürgen K. / Nishina, Patsy M. et al. | 2009
- 193
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Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila developmentOishi, Kimihiko / Zhang, Hui / Gault, William J. / Wang, Cindy J. / Tan, Cheryl C. / Kim, In-Kyong / Ying, Huiwen / Rahman, Tabassum / Pica, Natalie / Tartaglia, Marco et al. | 2009
- 202
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Genetic isolation and characterization of a splicing mutant of zebrafish dystrophinGuyon, Jeffrey R. / Goswami, Julie / Jun, Susan J. / Thorne, Marielle / Howell, Melanie / Pusack, Timothy / Kawahara, Genri / Steffen, Leta S. / Galdzicki, Michal / Kunkel, Louis M. et al. | 2009
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