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Previous Next 		Contents: Volume 18, Number 1, 1 January 2009   [Index by Author] 

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To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.

ARTICLES Back

Alessandro Campanella, Elisabetta Rovelli, Paolo Santambrogio, Anna Cozzi, Franco Taroni, and Sonia Levi
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia
Human Molecular Genetics Advance Access published on September 24, 2008
Hum. Mol. Genet. 2009 18: 1-11; doi:10.1093/hmg/ddn308 [Abstract] [Full Text] [PDF] [Request Permissions]  

Carlo Viscomi, Antonella Spinazzola, Marco Maggioni, Erika Fernandez-Vizarra, Valeria Massa, Claudio Pagano, Roberto Vettor, Marina Mora, and Massimo Zeviani
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice
Human Molecular Genetics Advance Access published on September 24, 2008
Hum. Mol. Genet. 2009 18: 12-26; doi:10.1093/hmg/ddn309 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Srikanth Ranganathan, George G. Harmison, Kristin Meyertholen, Maria Pennuto, Barrington G. Burnett, and Kenneth H. Fischbeck
Mitochondrial abnormalities in spinal and bulbar muscular atrophy
Human Molecular Genetics Advance Access published on September 29, 2008
Hum. Mol. Genet. 2009 18: 27-42; doi:10.1093/hmg/ddn310 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Suzanne L. Mansour, Stephen R.F. Twigg, Rowena M. Freeland, Steven A. Wall, Chaoying Li, and Andrew O.M. Wilkie
Hearing loss in a mouse model of Muenke syndrome
Human Molecular Genetics Advance Access published on September 25, 2008
Hum. Mol. Genet. 2009 18: 43-50; doi:10.1093/hmg/ddn311 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Erwin van Wijk, Ferry F.J. Kersten, Aileen Kartono, Dorus A. Mans, Kim Brandwijk, Stef J.F. Letteboer, Theo A. Peters, Tina Märker, Xiumin Yan, Cor W.R.J. Cremers, Frans P.M. Cremers, Uwe Wolfrum, Ronald Roepman, and Hannie Kremer
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein
Human Molecular Genetics Advance Access published on September 30, 2008
Hum. Mol. Genet. 2009 18: 51-64; doi:10.1093/hmg/ddn312 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Michelina Iacovino, Caroline Granycome, Hiroshi Sembongi, Monika Bokori-Brown, Ronald A. Butow, Ian J. Holt, and Joseph M. Bateman
The conserved translocase Tim17 prevents mitochondrial DNA loss
Human Molecular Genetics Advance Access published on September 30, 2008
Hum. Mol. Genet. 2009 18: 65-74; doi:10.1093/hmg/ddn313 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Carine Monnier, Catherine Dodé, Ludovic Fabre, Luis Teixeira, Gilles Labesse, Jean-Philippe Pin, Jean-Pierre Hardelin, and Philippe Rondard
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity
Human Molecular Genetics Advance Access published on September 29, 2008
Hum. Mol. Genet. 2009 18: 75-81; doi:10.1093/hmg/ddn318 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Cristina Cheroni, Marianna Marino, Massimo Tortarolo, Pietro Veglianese, Silvia De Biasi, Elena Fontana, Laura Vitellaro Zuccarello, Christa J. Maynard, Nico P. Dantuma, and Caterina Bendotti
Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosis
Human Molecular Genetics Advance Access published on September 29, 2008
Hum. Mol. Genet. 2009 18: 82-96; doi:10.1093/hmg/ddn319 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Michael Briese, Behrooz Esmaeili, Sandrine Fraboulet, Emma C. Burt, Stefanos Christodoulou, Paula R. Towers, Kay E. Davies, and David B. Sattelle
Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan
Human Molecular Genetics Advance Access published on October 1, 2008
Hum. Mol. Genet. 2009 18: 97-104; doi:10.1093/hmg/ddn320 [Abstract] [FREE Full Text] [PDF]   Creative Commons License OPEN ACCESS  

Veronica Bianchi, Pasqualina Farisello, Pietro Baldelli, Virginia Meskenaite, Marco Milanese, Matteo Vecellio, Sven Mühlemann, Hans Peter Lipp, Giambattista Bonanno, Fabio Benfenati, Daniela Toniolo, and Patrizia D'Adamo
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 training
Human Molecular Genetics Advance Access published on October 1, 2008
Hum. Mol. Genet. 2009 18: 105-117; doi:10.1093/hmg/ddn321 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Reiner Schulz, Ruth B. McCole, Kathryn Woodfine, Andrew J. Wood, Mandeep Chahal, David Monk, Gudrun E. Moore, and Rebecca J. Oakey
Transcript- and tissue-specific imprinting of a tumour suppressor gene
Human Molecular Genetics Advance Access published on October 4, 2008
Hum. Mol. Genet. 2009 18: 118-127; doi:10.1093/hmg/ddn322 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Noriko Esumi, Shu Kachi, Laszlo Hackler, Jr, Tomohiro Masuda, Zhiyong Yang, Peter A. Campochiaro, and Donald J. Zack
BEST1 expression in the retinal pigment epithelium is modulated by OTX family members
Human Molecular Genetics Advance Access published on October 10, 2008
Hum. Mol. Genet. 2009 18: 128-141; doi:10.1093/hmg/ddn323 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Paula Dietrich, Revathi Shanmugasundaram, Shuyu E, and Ioannis Dragatsis
Congenital hydrocephalus associated with abnormal subcommissural organ in mice lacking huntingtin in Wnt1 cell lineages
Human Molecular Genetics Advance Access published on October 6, 2008
Hum. Mol. Genet. 2009 18: 142-150; doi:10.1093/hmg/ddn324 [Abstract] [Full Text] [PDF] [Request Permissions]  

Tiffiney R. Hartman, Dongyan Liu, Jack T. Zilfou, Victoria Robb, Tasha Morrison, Terry Watnick, and Elizabeth P. Henske
The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway
Human Molecular Genetics Advance Access published on October 9, 2008
Hum. Mol. Genet. 2009 18: 151-163; doi:10.1093/hmg/ddn325 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Shreyasi Chatterjee, Tzu-Kang Sang, George M. Lawless, and George R. Jackson
Dissociation of tau toxicity and phosphorylation: role of GSK-3β, MARK and Cdk5 in a Drosophila model
Human Molecular Genetics Advance Access published on October 17, 2008
Hum. Mol. Genet. 2009 18: 164-177; doi:10.1093/hmg/ddn326 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Kenji Sakamoto, Michael McCluskey, Theodore G. Wensel, Jürgen K. Naggert, and Patsy M. Nishina
New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene
Human Molecular Genetics Advance Access published on October 11, 2008
Hum. Mol. Genet. 2009 18: 178-192; doi:10.1093/hmg/ddn327 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Kimihiko Oishi, Hui Zhang, William J. Gault, Cindy J. Wang, Cheryl C. Tan, In-Kyong Kim, Huiwen Ying, Tabassum Rahman, Natalie Pica, Marco Tartaglia, Marek Mlodzik, and Bruce D. Gelb
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development
Human Molecular Genetics Advance Access published on October 11, 2008
Hum. Mol. Genet. 2009 18: 193-201; doi:10.1093/hmg/ddn336 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Jeffrey R. Guyon, Julie Goswami, Susan J. Jun, Marielle Thorne, Melanie Howell, Timothy Pusack, Genri Kawahara, Leta S. Steffen, Michal Galdzicki, and Louis M. Kunkel
Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin
Human Molecular Genetics Advance Access published on October 28, 2008
Hum. Mol. Genet. 2009 18: 202-211; doi:10.1093/hmg/ddn337 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

FRONT-MATTER/BACK-MATTER Back

Cover Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddn413 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddn414 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddn415 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddn416 [PDF] [Request Permissions]  

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.