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Volume 22; Issue 4
Main
Human Molecular Genetics
Volume 22; Issue 4
Human Molecular Genetics
Volume 22; Issue 4
1
The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function
Brady, O. A.
,
Zheng, Y.
,
Murphy, K.
,
Huang, M.
,
Hu, F.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 794 KB
Your tags:
english, 2013
2
Oncogenic FGFR3 gene fusions in bladder cancer
Williams, S. V.
,
Hurst, C. D.
,
Knowles, M. A.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 893 KB
Your tags:
english, 2013
3
Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis
Farg, M. A.
,
Soo, K. Y.
,
Warraich, S. T.
,
Sundaramoorthy, V.
,
Blair, I. P.
,
Atkin, J. D.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 590 KB
Your tags:
english, 2013
4
Reduction of polyglutamine toxicity by TDP-43, FUS and progranulin in Huntington's disease models
Tauffenberger, A.
,
Chitramuthu, B. P.
,
Bateman, A.
,
Bennett, H. P.
,
Parker, J. A.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 1022 KB
Your tags:
english, 2013
5
Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome
Sun, Z.
,
Liu, P.
,
Jia, X.
,
Withers, M. A.
,
Jin, L.
,
Lupski, J. R.
,
Zhang, F.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 221 KB
Your tags:
english, 2013
6
Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis
Lee, S. H.
,
Harold, D.
,
Nyholt, D. R.
,
Goddard, M. E.
,
Zondervan, K. T.
,
Williams, J.
,
Montgomery, G. W.
,
Wray, N. R.
,
Visscher, P. M.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 194 KB
Your tags:
english, 2013
7
COPI transport complexes bind to specific RNAs in neuronal cells
Todd, A. G.
,
Lin, H.
,
Ebert, A. D.
,
Liu, Y.
,
Androphy, E. J.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 318 KB
Your tags:
english, 2013
8
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease
Kong, X.-F.
,
Vogt, G.
,
Itan, Y.
,
Macura-Biegun, A.
,
Szaflarska, A.
,
Kowalczyk, D.
,
Chapgier, A.
,
Abhyankar, A.
,
Furthner, D.
,
Djambas Khayat, C.
,
Okada, S.
,
Bryant, V. L.
,
Bogunovic, D.
,
Kreins, A.
,
M
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 581 KB
Your tags:
english, 2013
9
Noncanonical microRNAs and endogenous siRNAs in normal and psoriatic human skin
Xia, J.
,
Joyce, C. E.
,
Bowcock, A. M.
,
Zhang, W.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 428 KB
Your tags:
english, 2013
10
A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk
Chapman, J.
,
Rees, E.
,
Harold, D.
,
Ivanov, D.
,
Gerrish, A.
,
Sims, R.
,
Hollingworth, P.
,
Stretton, A.
,
Holmans, P.
,
Owen, M. J.
,
O'Donovan, M. C.
,
Williams, J.
,
Kirov, G.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 250 KB
Your tags:
english, 2013
11
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
Slavotinek, A. M.
,
Mehrotra, P.
,
Nazarenko, I.
,
Tang, P. L.-F.
,
Lao, R.
,
Cameron, D.
,
Li, B.
,
Chu, C.
,
Chou, C.
,
Marqueling, A. L.
,
Yahyavi, M.
,
Cordoro, K.
,
Frieden, I.
,
Glaser, T.
,
Prescott, T.
,
Mor
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 210 KB
Your tags:
english, 2013
12
Subscription Page
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 31 KB
Your tags:
english, 2013
13
Muscle-specific expression of LARGE restores neuromuscular transmission deficits in dystrophic LARGEmyd mice
Gumerson, J. D.
,
Davis, C. S.
,
Kabaeva, Z. T.
,
Hayes, J. M.
,
Brooks, S. V.
,
Michele, D. E.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 746 KB
Your tags:
english, 2013
14
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia
Szklarczyk, R.
,
Wanschers, B. F. J.
,
Nijtmans, L. G.
,
Rodenburg, R. J.
,
Zschocke, J.
,
Dikow, N.
,
van den Brand, M. A. M.
,
Hendriks-Franssen, M. G. M.
,
Gilissen, C.
,
Veltman, J. A.
,
Nooteboom, M.
,
Koop
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 394 KB
Your tags:
english, 2013
15
Contents Page
Journal:
Human Molecular Genetics
Year:
2013
File:
PDF, 32 KB
Your tags:
2013
16
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome
Panizza, E.
,
Ercolino, T.
,
Mori, L.
,
Rapizzi, E.
,
Castellano, M.
,
Opocher, G.
,
Ferrero, I.
,
Neumann, H. P. H.
,
Mannelli, M.
,
Goffrini, P.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 516 KB
Your tags:
english, 2013
17
Protein disulfide isomerase in ALS mouse glia links protein misfolding with NADPH oxidase-catalyzed superoxide production
Jaronen, M.
,
Vehvilainen, P.
,
Malm, T.
,
Keksa-Goldsteine, V.
,
Pollari, E.
,
Valonen, P.
,
Koistinaho, J.
,
Goldsteins, G.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 642 KB
Your tags:
english, 2013
18
A novel function for the survival motoneuron protein as a translational regulator
Sanchez, G.
,
Dury, A. Y.
,
Murray, L. M.
,
Biondi, O.
,
Tadesse, H.
,
El Fatimy, R.
,
Kothary, R.
,
Charbonnier, F.
,
Khandjian, E. W.
,
Cote, J.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 508 KB
Your tags:
english, 2013
19
Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds
Tiscornia, G.
,
Lorenzo Vivas, E.
,
Matalonga, L.
,
Berniakovich, I.
,
Barragan Monasterio, M.
,
Eguizabal, C.
,
Gort, L.
,
Gonzalez, F.
,
Ortiz Mellet, C.
,
Garcia Fernandez, J. M.
,
Ribes, A.
,
Veiga, A.
,
Izpi
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 1.22 MB
Your tags:
english, 2013
20
Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer
Henrion, M.
,
Frampton, M.
,
Scelo, G.
,
Purdue, M.
,
Ye, Y.
,
Broderick, P.
,
Ritchie, A.
,
Kaplan, R.
,
Meade, A.
,
McKay, J.
,
Johansson, M.
,
Lathrop, M.
,
Larkin, J.
,
Rothman, N.
,
Wang, Z.
,
Chow, W.-H.
,
Stev
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 143 KB
Your tags:
english, 2013
21
Cover Page
Journal:
Human Molecular Genetics
Year:
2013
File:
PDF, 190 KB
Your tags:
2013
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