Skip Navigation

Receive this page by email each issue: [Sign up for eTOCs]

Cover Image
[Cover Caption] 
Other Issues:
Previous 		Contents: Volume 17, Number 14, 15 July 2008   [Index by Author] 

Down ARTICLES
Down CORRIGENDUM


[Search ALL Issues]

Front Matter (PDF) | Table of Contents (PDF)

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

Sandro Alves, Etienne Régulier, Isabel Nascimento-Ferreira, Raymonde Hassig, Noelle Dufour, Arnulf Koeppen, Ana Luísa Carvalho, Sérgio Simões, Maria C. Pedroso de Lima, Emmanuel Brouillet, Veronica Colomer Gould, Nicole Déglon, and Luís Pereira de Almeida
Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease
Human Molecular Genetics Advance Access published on April 1, 2008
Hum. Mol. Genet. 2008 17: 2071-2083; doi:10.1093/hmg/ddn106 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Lawrence C.S. Tam, Anna-Sophia Kiang, Avril Kennan, Paul F. Kenna, Naomi Chadderton, Marius Ader, Arpad Palfi, Aileen Aherne, Carmen Ayuso, Matthew Campbell, Alison Reynolds, Alex McKee, Marian M. Humphries, G. Jane Farrar, and Pete Humphries
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10)
Human Molecular Genetics Advance Access published on April 1, 2008
Hum. Mol. Genet. 2008 17: 2084-2100; doi:10.1093/hmg/ddn107 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Saleemah Fahmi, Chendong Yang, Sophie Esmail, Helen H. Hobbs, and Jonathan C. Cohen
Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes
Human Molecular Genetics Advance Access published on April 15, 2008
Hum. Mol. Genet. 2008 17: 2101-2107; doi:10.1093/hmg/ddn108 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Hélène Catoire, Matthieu Y. Pasco, Aida Abu-Baker, Sébastien Holbert, Cendrine Tourette, Bernard Brais, Guy A. Rouleau, J. Alex Parker, and Christian Néri
Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1
Human Molecular Genetics Advance Access published on April 7, 2008
Hum. Mol. Genet. 2008 17: 2108-2117; doi:10.1093/hmg/ddn109 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Ivana Matera, Dawn E. Watkins-Chow, Stacie K. Loftus, Ling Hou, Arturo Incao, Debra L. Silver, Cecelia Rivas, Eugene C. Elliott, Laura L. Baxter, and William J. Pavan
A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy
Human Molecular Genetics Advance Access published on April 7, 2008
Hum. Mol. Genet. 2008 17: 2118-2131; doi:10.1093/hmg/ddn110 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Anna Buj-Bello, Françoise Fougerousse, Yannick Schwab, Nadia Messaddeq, Danièle Spehner, Christopher R. Pierson, Muriel Durand, Christine Kretz, Olivier Danos, Anne-Marie Douar, Alan H. Beggs, Patrick Schultz, Marie Montus, Patrice Denèfle, and Jean-Louis Mandel
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
Human Molecular Genetics Advance Access published on April 22, 2008
Hum. Mol. Genet. 2008 17: 2132-2143; doi:10.1093/hmg/ddn112 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Bozena Novotna, Radana Neuwirtova, Magda Siskova, and Yana Bagryantseva
DNA instability in low-risk myelodysplastic syndromes: refractory anemia with or without ring sideroblasts
Human Molecular Genetics Advance Access published on April 21, 2008
Hum. Mol. Genet. 2008 17: 2144-2149; doi:10.1093/hmg/ddn113 [Abstract] [Full Text] [PDF] [Request Permissions]  

Anna Rajab, Daniel Kelberman, Sandra C.P. de Castro, Heike Biebermann, Hala Shaikh, Kerra Pearce, Catherine M. Hall, Guftar Shaikh, Dianne Gerrelli, Annette Grueters, Heiko Krude, and Mehul T. Dattani
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss
Human Molecular Genetics Advance Access published on April 10, 2008
Hum. Mol. Genet. 2008 17: 2150-2159; doi:10.1093/hmg/ddn114 [Abstract] [Full Text] [PDF] [Request Permissions]  

Elli Kyratzi, Maria Pavlaki, and Leonidas Stefanis
The S18Y polymorphic variant of UCH-L1 confers an antioxidant function to neuronal cells
Human Molecular Genetics Advance Access published on April 14, 2008
Hum. Mol. Genet. 2008 17: 2160-2171; doi:10.1093/hmg/ddn115 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Miriam Gordillo, Hugo Vega, Alison H. Trainer, Fajian Hou, Norio Sakai, Ricardo Luque, Hülya Kayserili, Seher Basaran, Flemming Skovby, Raoul C. M. Hennekam, Maria L. Giovannucci Uzielli, Rhonda E. Schnur, Sylvie Manouvrier, Susan Chang, Edward Blair, Jane A. Hurst, Francesca Forzano, Moritz Meins, Kalle O.J. Simola, Annick Raas-Rothschild, Roger A. Schultz, Lisa D. McDaniel, Keiichi Ozono, Koji Inui, Hui Zou, and Ethylin Wang Jabs
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity
Human Molecular Genetics Advance Access published on April 14, 2008
Hum. Mol. Genet. 2008 17: 2172-2180; doi:10.1093/hmg/ddn116 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Detlef H. Heck, Yu Zhao, Snigdha Roy, Mark S. LeDoux, and Lawrence T. Reiter
Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors
Human Molecular Genetics Advance Access published on April 15, 2008
Hum. Mol. Genet. 2008 17: 2181-2189; doi:10.1093/hmg/ddn117 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Sandrine Marquet, Ogobara Doumbo, Sandrine Cabantous, Belco Poudiougou, Laurent Argiro, Innocent Safeukui, Salimata Konate, Sibiri Sissoko, Estelle Chevereau, Abdoulaye Traore, Mamadou M. Keita, Christophe Chevillard, Laurent Abel, and Alain J. Dessein
A functional promoter variant in IL12B predisposes to cerebral malaria
Human Molecular Genetics Advance Access published on April 15, 2008
Hum. Mol. Genet. 2008 17: 2190-2195; doi:10.1093/hmg/ddn118 [Abstract] [Full Text] [PDF] [Request Permissions]  

Guillermo Mariño, Alejandro P. Ugalde, Natalia Salvador-Montoliu, Ignacio Varela, Pedro M. Quirós, Juan Cadiñanos, Ingrid van der Pluijm, José M.P. Freije, and Carlos López-Otín
Premature aging in mice activates a systemic metabolic response involving autophagy induction
Human Molecular Genetics Advance Access published on April 28, 2008
Hum. Mol. Genet. 2008 17: 2196-2211; doi:10.1093/hmg/ddn120 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Brett T. Chiquet, Susan H. Blanton, Amber Burt, Deqiong Ma, Samuel Stal, John B. Mulliken, and Jacqueline T. Hecht
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate
Human Molecular Genetics Advance Access published on April 14, 2008
Hum. Mol. Genet. 2008 17: 2212-2218; doi:10.1093/hmg/ddn121 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Orna Levran, Kimberly O'Hara, Einat Peles, Dawei Li, Sandra Barral, Brenda Ray, Lisa Borg, Jurg Ott, Miriam Adelson, and Mary Jeanne Kreek
ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence
Human Molecular Genetics Advance Access published on April 17, 2008
Hum. Mol. Genet. 2008 17: 2219-2227; doi:10.1093/hmg/ddn122 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Lindsay A. Bremer, Scott M. Blackman, Lori L. Vanscoy, Kathryn E. McDougal, Amanda Bowers, Kathleen M. Naughton, David J. Cutler, and Garry R. Cutting
Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis
Human Molecular Genetics Advance Access published on April 17, 2008
Hum. Mol. Genet. 2008 17: 2228-2237; doi:10.1093/hmg/ddn123 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Andrea Balreira, Paulo Gaspar, Daniel Caiola, João Chaves, Idalina Beirão, José Lopes Lima, Jorge Eduardo Azevedo, and Maria Clara Sá Miranda
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome
Human Molecular Genetics Advance Access published on April 17, 2008
Hum. Mol. Genet. 2008 17: 2238-2243; doi:10.1093/hmg/ddn124 [Abstract] [Full Text] [PDF] [Request Permissions]  

Dobrawa Napierala, Kathy Sam, Roy Morello, Qiping Zheng, Elda Munivez, Ramesh A. Shivdasani, and Brendan Lee
Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome
Human Molecular Genetics Advance Access published on April 17, 2008
Hum. Mol. Genet. 2008 17: 2244-2254; doi:10.1093/hmg/ddn125 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

CORRIGENDUM Back

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 May 26, 2008
Hum. Mol. Genet. 2008 17: 2255-2256; doi:10.1093/hmg/ddn155 [Extract] [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.