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Previous Next 		Contents: Volume 17, Number 24, 15 December 2008   [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

Diana Zala, Emilie Colin, Hélène Rangone, Géraldine Liot, Sandrine Humbert, and Frédéric Saudou
Phosphorylation of mutant huntingtin at S421 restores anterograde and retrograde transport in neurons
Human Molecular Genetics Advance Access published on September 4, 2008
Hum. Mol. Genet. 2008 17: 3837-3846; doi:10.1093/hmg/ddn281 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Melanie A. Knight, Dena Hernandez, Scott J. Diede, Hans G. Dauwerse, Ian Rafferty, Joyce van de Leemput, Susan M. Forrest, R.J.McKinlay Gardner, Elsdon Storey, Gert-Jan B. van Ommen, Stephen J. Tapscott, Kenneth H. Fischbeck, and Andrew B. Singleton
A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20
Human Molecular Genetics Advance Access published on September 18, 2008
Hum. Mol. Genet. 2008 17: 3847-3853; doi:10.1093/hmg/ddn283 [Abstract] [FREE Full Text] [PDF]   Creative Commons License OPEN ACCESS  

Britta Keyser, Chris Mühlhausen, Achim Dickmanns, Ernst Christensen, Nicole Muschol, Kurt Ullrich, and Thomas Braulke
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)
Human Molecular Genetics Advance Access published on September 5, 2008
Hum. Mol. Genet. 2008 17: 3854-3863; doi:10.1093/hmg/ddn284 [Abstract] [Full Text] [PDF] [Request Permissions]  

Stefania Segditsas, Oliver Sieber, Maesha Deheragoda, Phil East, Andrew Rowan, Rosemary Jeffery, Emma Nye, Susan Clark, Bradley Spencer-Dene, Gordon Stamp, Richard Poulsom, Nirosha Suraweera, Andrew Silver, Mohammad Ilyas, and Ian Tomlinson
Putative direct and indirect Wnt targets identified through consistent gene expression changes in APC-mutant intestinal adenomas from humans and mice
Human Molecular Genetics Advance Access published on September 9, 2008
Hum. Mol. Genet. 2008 17: 3864-3875; doi:10.1093/hmg/ddn286 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Gaelle Douillard-Guilloux, Nina Raben, Shoichi Takikita, Lionel Batista, Catherine Caillaud, and Emmanuel Richard
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II
Human Molecular Genetics Advance Access published on September 9, 2008
Hum. Mol. Genet. 2008 17: 3876-3886; doi:10.1093/hmg/ddn290 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Ana I. Alvarez Retuerto, Rita M. Cantor, Joseph G. Gleeson, Anna Ustaszewska, Wendy S. Schackwitz, Len A. Pennacchio, and Daniel H. Geschwind
Association of common variants in the Joubert syndrome gene (AHI1) with autism
Human Molecular Genetics Advance Access published on September 9, 2008
Hum. Mol. Genet. 2008 17: 3887-3896; doi:10.1093/hmg/ddn291 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Nina Raben, Victoria Hill, Lauren Shea, Shoichi Takikita, Rebecca Baum, Noboru Mizushima, Evelyn Ralston, and Paul Plotz
Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease
Human Molecular Genetics Advance Access published on September 9, 2008
Hum. Mol. Genet. 2008 17: 3897-3908; doi:10.1093/hmg/ddn292 [Abstract] [Full Text] [PDF] [Request Permissions]  

HaiFang Yin, Hong M. Moulton, Yiqi Seow, Corinne Boyd, Jordan Boutilier, Patrick Iverson, and Matthew J.A. Wood
Cell-penetrating peptide-conjugated antisense oligonucleotides restore systemic muscle and cardiac dystrophin expression and function
Human Molecular Genetics Advance Access published on September 10, 2008
Hum. Mol. Genet. 2008 17: 3909-3918; doi:10.1093/hmg/ddn293 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Sabina Domené, Erich Roessler, Kenia B. El-Jaick, Mirit Snir, Jamie L. Brown, Jorge I. Vélez, Sherri Bale, Felicitas Lacbawan, Maximilian Muenke, and Benjamin Feldman
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
Human Molecular Genetics Advance Access published on September 12, 2008
Hum. Mol. Genet. 2008 17: 3919-3928; doi:10.1093/hmg/ddn294 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Bo Chang, Md Nawajes A. Mandal, Venkata R.M. Chavali, Norman L. Hawes, Naheed W. Khan, Ronald E. Hurd, Richard S. Smith, Muriel L. Davisson, Laura Kopplin, Barbara E.K. Klein, Ronald Klein, Sudha K. Iyengar, John R. Heckenlively, and Radha Ayyagari
Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene
Human Molecular Genetics Advance Access published on September 18, 2008
Hum. Mol. Genet. 2008 17: 3929-3941; doi:10.1093/hmg/ddn295 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Yoshihiro Morishima, Adrienne M. Wang, Zhigang Yu, William B. Pratt, Yoichi Osawa, and Andrew P. Lieberman
CHIP deletion reveals functional redundancy of E3 ligases in promoting degradation of both signaling proteins and expanded glutamine proteins
Human Molecular Genetics Advance Access published on September 10, 2008
Hum. Mol. Genet. 2008 17: 3942-3952; doi:10.1093/hmg/ddn296 [Abstract] [Full Text] [PDF] [Request Permissions]  

Jolanta E. Pitera, Peter J. Scambler, and Adrian S. Woolf
Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli
Human Molecular Genetics Advance Access published on September 11, 2008
Hum. Mol. Genet. 2008 17: 3953-3964; doi:10.1093/hmg/ddn297 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Amélie Piton, Jacques L. Michaud, Huashan Peng, Swaroop Aradhya, Julie Gauthier, Laurent Mottron, Nathalie Champagne, Ronald G. Lafrenière, Fadi F. Hamdan, S2D team, Ridha Joober, Eric Fombonne, Claude Marineau, Patrick Cossette, Marie-Pierre Dubé, Pejmun Haghighi, Pierre Drapeau, Philip A. Barker, Salvatore Carbonetto, and Guy A. Rouleau
Mutations in the calcium-related gene IL1RAPL1 are associated with autism
Human Molecular Genetics Advance Access published on September 18, 2008
Hum. Mol. Genet. 2008 17: 3965-3974; doi:10.1093/hmg/ddn300 [Abstract] [Full Text] [PDF] [Request Permissions]  

Glen B. Banks, Ariana C. Combs, Joel R. Chamberlain, and Jeffrey S. Chamberlain
Molecular and cellular adaptations to chronic myotendinous strain injury in mdx mice expressing a truncated dystrophin
Human Molecular Genetics Advance Access published on September 16, 2008
Hum. Mol. Genet. 2008 17: 3975-3986; doi:10.1093/hmg/ddn301 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Mariya Moosajee, Kevin Gregory-Evans, Charles D. Ellis, Miguel C. Seabra, and Cheryl Y. Gregory-Evans
Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease
Human Molecular Genetics Advance Access published on September 22, 2008
Hum. Mol. Genet. 2008 17: 3987-4000; doi:10.1093/hmg/ddn302 [Abstract] [Full Text] [PDF] [Request Permissions]  

Rosa Pello, Miguel A. Martín, Valerio Carelli, Leo G. Nijtmans, Alessandro Achilli, Maria Pala, Antonio Torroni, Aurora Gómez-Durán, Eduardo Ruiz-Pesini, Andrea Martinuzzi, Jan A. Smeitink, Joaquín Arenas, and Cristina Ugalde
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease
Human Molecular Genetics Advance Access published on September 19, 2008
Hum. Mol. Genet. 2008 17: 4001-4011; doi:10.1093/hmg/ddn303 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Pierre A. Zalloua, Sami T. Azar, Marc Delépine, Nadine J. Makhoul, Hervé Blanc, May Sanyoura, Anne Lavergne, Karmen Stankov, Arnaud Lemainque, Patrick Baz, and Cécile Julier
WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon
Human Molecular Genetics Advance Access published on September 20, 2008
Hum. Mol. Genet. 2008 17: 4012-4021; doi:10.1093/hmg/ddn304 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Akio Masuda, Xin-Ming Shen, Mikako Ito, Tohru Matsuura, Andrew G. Engel, and Kinji Ohno
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome
Human Molecular Genetics Advance Access published on September 20, 2008
Hum. Mol. Genet. 2008 17: 4022-4035; doi:10.1093/hmg/ddn305 [Abstract] [Full Text] [PDF] [Request Permissions]  

Xiaowen Wang, Kelly Salinas, Xiaoming Zuo, Blanka Kucejova, and Xin Jie Chen
Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases
Human Molecular Genetics Advance Access published on September 22, 2008
Hum. Mol. Genet. 2008 17: 4036-4044; doi:10.1093/hmg/ddn306 [Abstract] [Full Text] [PDF] [Request Permissions]  

Anne S. Bassett, Christian R. Marshall, Anath C. Lionel, Eva W.C. Chow, and Stephen W. Scherer
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
Human Molecular Genetics Advance Access published on September 20, 2008
Hum. Mol. Genet. 2008 17: 4045-4053; doi:10.1093/hmg/ddn307 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

FRONT-MATTER/BACK-MATTER Back

Cover Page
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn390 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn391 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn392 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn393 [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.