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Volume 19; Issue 10
Main
Human Molecular Genetics
Volume 19; Issue 10
Human Molecular Genetics
Volume 19; Issue 10
1
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats
Bena, F.
,
Gimelli, S.
,
Migliavacca, E.
,
Brun-Druc, N.
,
Buiting, K.
,
Antonarakis, S. E.
,
Sharp, A. J.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 277 KB
Your tags:
english, 2010
2
Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects
Wang, K.
,
Baldassano, R.
,
Zhang, H.
,
Qu, H. Q.
,
Imielinski, M.
,
Kugathasan, S.
,
Annese, V.
,
Dubinsky, M.
,
Rotter, J. I.
,
Russell, R. K.
,
Bradfield, J. P.
,
Sleiman, P. M. A.
,
Glessner, J. T.
,
Walters,
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 167 KB
Your tags:
english, 2010
3
Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk
Reynolds, C. A.
,
Hong, M. G.
,
Eriksson, U. K.
,
Blennow, K.
,
Wiklund, F.
,
Johansson, B.
,
Malmberg, B.
,
Berg, S.
,
Alexeyenko, A.
,
Gronberg, H.
,
Gatz, M.
,
Pedersen, N. L.
,
Prince, J. A.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 285 KB
Your tags:
english, 2010
4
Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults
Lange, L. A.
,
Croteau-Chonka, D. C.
,
Marvelle, A. F.
,
Qin, L.
,
Gaulton, K. J.
,
Kuzawa, C. W.
,
McDade, T. W.
,
Wang, Y.
,
Li, Y.
,
Levy, S.
,
Borja, J. B.
,
Lange, E. M.
,
Adair, L. S.
,
Mohlke, K. L.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 175 KB
Your tags:
english, 2010
5
Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia
Du, F.
,
Ozdowski, E. F.
,
Kotowski, I. K.
,
Marchuk, D. A.
,
Sherwood, N. T.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 552 KB
Your tags:
english, 2010
6
Cover Page
Journal:
Human Molecular Genetics
Year:
2010
File:
PDF, 471 KB
Your tags:
2010
7
An ovine transgenic Huntington's disease model
Jacobsen, J. C.
,
Bawden, C. S.
,
Rudiger, S. R.
,
McLaughlan, C. J.
,
Reid, S. J.
,
Waldvogel, H. J.
,
MacDonald, M. E.
,
Gusella, J. F.
,
Walker, S. K.
,
Kelly, J. M.
,
Webb, G. C.
,
Faull, R. L. M.
,
Rees, M.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 423 KB
Your tags:
english, 2010
8
Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK
Fogarty, M. P.
,
Xiao, R.
,
Prokunina-Olsson, L.
,
Scott, L. J.
,
Mohlke, K. L.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 395 KB
Your tags:
english, 2010
9
Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice
Cao, J.
,
Gong, L.
,
Guo, D. c.
,
Mietzsch, U.
,
Kuang, S. Q.
,
Kwartler, C. S.
,
Safi, H.
,
Estrera, A.
,
Gambello, M. J.
,
Milewicz, D. M.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 671 KB
Your tags:
english, 2010
10
Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer
Lostal, W.
,
Bartoli, M.
,
Bourg, N.
,
Roudaut, C.
,
Bentaib, A.
,
Miyake, K.
,
Guerchet, N.
,
Fougerousse, F.
,
McNeil, P.
,
Richard, I.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 469 KB
Your tags:
english, 2010
11
Ketogenic diet slows down mitochondrial myopathy progression in mice
Ahola-Erkkila, S.
,
Carroll, C. J.
,
Peltola-Mjosund, K.
,
Tulkki, V.
,
Mattila, I.
,
Seppanen-Laakso, T.
,
Oresic, M.
,
Tyynismaa, H.
,
Suomalainen, A.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 466 KB
Your tags:
english, 2010
12
Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy
Fourcade, S.
,
Ruiz, M.
,
Guilera, C.
,
Hahnen, E.
,
Brichta, L.
,
Naudi, A.
,
Portero-Otin, M.
,
Dacremont, G.
,
Cartier, N.
,
Wanders, R.
,
Kemp, S.
,
Mandel, J. L.
,
Wirth, B.
,
Pamplona, R.
,
Aubourg, P.
,
Pujol
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 329 KB
Your tags:
english, 2010
13
The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal -actin mRNA translocation in spinal motor neurons
Glinka, M.
,
Herrmann, T.
,
Funk, N.
,
Havlicek, S.
,
Rossoll, W.
,
Winkler, C.
,
Sendtner, M.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 668 KB
Your tags:
english, 2010
14
A DNA damage-activated checkpoint kinase phosphorylates tau and enhances tau-induced neurodegeneration
Iijima-Ando, K.
,
Zhao, L.
,
Gatt, A.
,
Shenton, C.
,
Iijima, K.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 366 KB
Your tags:
english, 2010
15
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism
Bowl, M. R.
,
Mirczuk, S. M.
,
Grigorieva, I. V.
,
Piret, S. E.
,
Cranston, T.
,
Southam, L.
,
Allgrove, J.
,
Bahl, S.
,
Brain, C.
,
Loughlin, J.
,
Mughal, Z.
,
Ryan, F.
,
Shaw, N.
,
Thakker, Y. V.
,
Tiosano, D.
,
N
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 462 KB
Your tags:
english, 2010
16
Contents Page
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 42 KB
Your tags:
english, 2010
17
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression
Zaucke, F.
,
Boehnlein, J. M.
,
Steffens, S.
,
Polishchuk, R. S.
,
Rampoldi, L.
,
Fischer, A.
,
Pasch, A.
,
Boehm, C. W. A.
,
Baasner, A.
,
Attanasio, M.
,
Hoppe, B.
,
Hopfer, H.
,
Beck, B. B.
,
Sayer, J. A.
,
Hild
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 432 KB
Your tags:
english, 2010
18
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia
Simon, D.
,
Laloo, B.
,
Barillot, M.
,
Barnetche, T.
,
Blanchard, C.
,
Rooryck, C.
,
Marche, M.
,
Burgelin, I.
,
Coupry, I.
,
Chassaing, N.
,
Gilbert-Dussardier, B.
,
Lacombe, D.
,
Grosset, C.
,
Arveiler, B.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 533 KB
Your tags:
english, 2010
19
Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects
Cristini, S.
,
Navone, S.
,
Canzi, L.
,
Acerbi, F.
,
Ciusani, E.
,
Hladnik, U.
,
de Gemmis, P.
,
Alessandri, G.
,
Colombo, A.
,
Parati, E.
,
Invernici, G.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 425 KB
Your tags:
english, 2010
20
Subscription Page
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 37 KB
Your tags:
english, 2010
21
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans
Lesage, S.
,
Patin, E.
,
Condroyer, C.
,
Leutenegger, A. L.
,
Lohmann, E.
,
Giladi, N.
,
Bar-Shira, A.
,
Belarbi, S.
,
Hecham, N.
,
Pollak, P.
,
Ouvrard-Hernandez, A. M.
,
Bardien, S.
,
Carr, J.
,
Benhassine, T.
,
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 165 KB
Your tags:
english, 2010
22
Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count
Okada, Y.
,
Kamatani, Y.
,
Takahashi, A.
,
Matsuda, K.
,
Hosono, N.
,
Ohmiya, H.
,
Daigo, Y.
,
Yamamoto, K.
,
Kubo, M.
,
Nakamura, Y.
,
Kamatani, N.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 258 KB
Your tags:
english, 2010
23
Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo
Gersting, S. W.
,
Lagler, F. B.
,
Eichinger, A.
,
Kemter, K. F.
,
Danecka, M. K.
,
Messing, D. D.
,
Staudigl, M.
,
Domdey, K. A.
,
Zsifkovits, C.
,
Fingerhut, R.
,
Glossmann, H.
,
Roscher, A. A.
,
Muntau, A. C.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 427 KB
Your tags:
english, 2010
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