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Previous Next 		Contents: Volume 17, Number 10, 15 May 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

Alice S. Chen-Plotkin, Felix Geser, Joshua B. Plotkin, Chris M. Clark, Linda K. Kwong, Wuxing Yuan, Murray Grossman, Vivianna M. Van Deerlin, John Q. Trojanowski, and Virginia M.-Y. Lee
Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration
Human Molecular Genetics Advance Access published on January 25, 2008
Hum. Mol. Genet. 2008 17: 1349-1362; doi:10.1093/hmg/ddn023 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Helen Dimaras, Vikas Khetan, William Halliday, Marija Orlic, Nadia L. Prigoda, Beata Piovesan, Paula Marrano, Timothy W. Corson, Ralph C. Eagle, Jr, Jeremy A. Squire, and Brenda L. Gallie
Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma
Human Molecular Genetics Advance Access published on January 22, 2008
Hum. Mol. Genet. 2008 17: 1363-1372; doi:10.1093/hmg/ddn024 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Heidrun Witan, Andreas Kern, Ingrid Koziollek-Drechsler, Rebecca Wade, Christian Behl, and Albrecht M. Clement
Heterodimer formation of wild-type and amyotrophic lateral sclerosis-causing mutant Cu/Zn-superoxide dismutase induces toxicity independent of protein aggregation
Human Molecular Genetics Advance Access published on January 22, 2008
Hum. Mol. Genet. 2008 17: 1373-1385; doi:10.1093/hmg/ddn025 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Denis G.M. Jugloff, Katrina Vandamme, Richard Logan, Naomi P. Visanji, Jonathan M. Brotchie, and James H. Eubanks
Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice
Human Molecular Genetics Advance Access published on January 25, 2008
Hum. Mol. Genet. 2008 17: 1386-1396; doi:10.1093/hmg/ddn026 [Abstract] [Full Text] [PDF] [Request Permissions]  

Stella Marie Reamon-Buettner, Yari Ciribilli, Alberto Inga, and Juergen Borlak
A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts
Human Molecular Genetics Advance Access published on February 14, 2008
Hum. Mol. Genet. 2008 17: 1397-1405; doi:10.1093/hmg/ddn027 [Abstract] [Full Text] [PDF] [Request Permissions]  

Annina Lyly, Sanna K. Marjavaara, Aija Kyttälä, Kristiina Uusi-Rauva, Kaisu Luiro, Outi Kopra, Laurent O. Martinez, Kimmo Tanhuanpää, Nisse Kalkkinen, Anu Suomalainen, Matti Jauhiainen, and Anu Jalanko
Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism
Human Molecular Genetics Advance Access published on February 1, 2008
Hum. Mol. Genet. 2008 17: 1406-1417; doi:10.1093/hmg/ddn028 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Eric Dufour, Mügen Terzioglu, Fredrik Hansson Sterky, Lene Sörensen, Dagmar Galter, Lars Olson, Johannes Wilbertz, and Nils-Göran Larsson
Age-associated mosaic respiratory chain deficiency causes trans-neuronal degeneration
Human Molecular Genetics Advance Access published on February 1, 2008
Hum. Mol. Genet. 2008 17: 1418-1426; doi:10.1093/hmg/ddn030 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

Flavia Cerrato, Angela Sparago, Gaetano Verde, Agostina De Crescenzo, Valentina Citro, Maria Vittoria Cubellis, Maria Michela Rinaldi, Luigi Boccuto, Giovanni Neri, Cinzia Magnani, Paolo D'Angelo, Paola Collini, Daniela Perotti, Gianfranco Sebastio, Eamonn R. Maher, and Andrea Riccio
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour
Human Molecular Genetics Advance Access published on February 1, 2008
Hum. Mol. Genet. 2008 17: 1427-1435; doi:10.1093/hmg/ddn031 [Abstract] [Full Text] [PDF] [Request Permissions]  

Jeffrey W. Hewett, Flávia C. Nery, Brian Niland, Pei Ge, Pamela Tan, Philipp Hadwiger, Bakhos A. Tannous, Dinah W.Y. Sah, and Xandra O. Breakefield
siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells
Human Molecular Genetics Advance Access published on February 7, 2008
Hum. Mol. Genet. 2008 17: 1436-1445; doi:10.1093/hmg/ddn032 [Abstract] [Full Text] [PDF] [Request Permissions]  

Alexandra Benchoua, Yaël Trioulier, Elsa Diguet, Carole Malgorn, Marie-Claude Gaillard, Noelle Dufour, Jean-Marc Elalouf, Stan Krajewski, Philippe Hantraye, Nicole Déglon, and Emmanuel Brouillet
Dopamine determines the vulnerability of striatal neurons to the N-terminal fragment of mutant huntingtin through the regulation of mitochondrial complex II
Human Molecular Genetics Advance Access published on February 11, 2008
Hum. Mol. Genet. 2008 17: 1446-1456; doi:10.1093/hmg/ddn033 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Claire Palles, Nichola Johnson, Ben Coupland, Claire Taylor, Jaime Carvajal, Jeff Holly, Ian S. Fentiman, Isabel dos Santos Silva, Alan Ashworth, Julian Peto, and Olivia Fletcher
Identification of genetic variants that influence circulating IGF1 levels: a targeted search strategy
Human Molecular Genetics Advance Access published on February 4, 2008
Hum. Mol. Genet. 2008 17: 1457-1464; doi:10.1093/hmg/ddn034 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Isabel Lastres-Becker, Susanne Brodesser, Dieter Lütjohann, Mekhman Azizov, Jana Buchmann, Edith Hintermann, Konrad Sandhoff, Annette Schürmann, Joachim Nowock, and Georg Auburger
Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice
Human Molecular Genetics Advance Access published on February 4, 2008
Hum. Mol. Genet. 2008 17: 1465-1481; doi:10.1093/hmg/ddn035 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Tomohiro Kabuta, Rieko Setsuie, Takeshi Mitsui, Aiko Kinugawa, Mikako Sakurai, Shunsuke Aoki, Kenko Uchida, and Keiji Wada
Aberrant molecular properties shared by familial Parkinson’s disease-associated mutant UCH-L1 and carbonyl-modified UCH-L1
Human Molecular Genetics Advance Access published on February 4, 2008
Hum. Mol. Genet. 2008 17: 1482-1496; doi:10.1093/hmg/ddn037 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Kay Chapman, Atsushi Takahashi, Ingrid Meulenbelt, Chris Watson, Julio Rodriguez-Lopez, Rainer Egli, Aspasia Tsezou, Konstantinos N. Malizos, Margreet Kloppenburg, Dongquan Shi, Lorraine Southam, Ruud van der Breggen, Rachelle Donn, Jianghui Qin, Michael Doherty, P. Eline Slagboom, Gillian Wallis, Naoyuki Kamatani, Qing Jiang, Antonio Gonzalez, John Loughlin, and Shiro Ikegawa
A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility
Human Molecular Genetics Advance Access published on February 24, 2008
Hum. Mol. Genet. 2008 17: 1497-1504; doi:10.1093/hmg/ddn038 [Abstract] [Full Text] [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.