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Volume 21; Issue 17
Main
Human Molecular Genetics
Volume 21; Issue 17
Human Molecular Genetics
Volume 21; Issue 17
1
Identification of novel ATP13A2 interactors and their role in -synuclein misfolding and toxicity
Usenovic, M.
,
Knight, A. L.
,
Ray, A.
,
Wong, V.
,
Brown, K. R.
,
Caldwell, G. A.
,
Caldwell, K. A.
,
Stagljar, I.
,
Krainc, D.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 75 KB
Your tags:
english, 2012
2
Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome
Andrade, L. N. d. S.
,
Nathanson, J. L.
,
Yeo, G. W.
,
Menck, C. F. M.
,
Muotri, A. R.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 548 KB
Your tags:
english, 2012
3
Signaling defects in iPSC-derived fragile X premutation neurons
Liu, J.
,
Koscielska, K. A.
,
Cao, Z.
,
Hulsizer, S.
,
Grace, N.
,
Mitchell, G.
,
Nacey, C.
,
Githinji, J.
,
McGee, J.
,
Garcia-Arocena, D.
,
Hagerman, R. J.
,
Nolta, J.
,
Pessah, I. N.
,
Hagerman, P. J.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 727 KB
Your tags:
english, 2012
4
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness
Delmaghani, S.
,
Aghaie, A.
,
Michalski, N.
,
Bonnet, C.
,
Weil, D.
,
Petit, C.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 465 KB
Your tags:
english, 2012
5
Calpain and STriatal-Enriched protein tyrosine Phosphatase (STEP) activation contribute to extrasynaptic NMDA receptor localization in a Huntington's disease mouse model
Gladding, C. M.
,
Sepers, M. D.
,
Xu, J.
,
Zhang, L. Y. J.
,
Milnerwood, A. J.
,
Lombroso, P. J.
,
Raymond, L. A.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 579 KB
Your tags:
english, 2012
6
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome
Cossins, J.
,
Liu, W. W.
,
Belaya, K.
,
Maxwell, S.
,
Oldridge, M.
,
Lester, T.
,
Robb, S.
,
Beeson, D.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 561 KB
Your tags:
english, 2012
7
Retrocochlear function of the peripheral deafness gene Cacna1d
Satheesh, S. V.
,
Kunert, K.
,
Ruttiger, L.
,
Zuccotti, A.
,
Schonig, K.
,
Friauf, E.
,
Knipper, M.
,
Bartsch, D.
,
Nothwang, H. G.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 9.36 MB
Your tags:
english, 2012
8
Contents Page
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 34 KB
Your tags:
english, 2012
9
E2F transcription factor-1 deficiency reduces pathophysiology in the mouse model of Duchenne muscular dystrophy through increased muscle oxidative metabolism
Blanchet, E.
,
Annicotte, J.-S.
,
Pradelli, L. A.
,
Hugon, G.
,
Matecki, S.
,
Mornet, D.
,
Rivier, F.
,
Fajas, L.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 370 KB
Your tags:
english, 2012
10
The autoimmunity-associated BLK haplotype exhibits cis-regulatory effects on mRNA and protein expression that are prominently observed in B cells early in development
Simpfendorfer, K. R.
,
Olsson, L. M.
,
Manjarrez Orduno, N.
,
Khalili, H.
,
Simeone, A. M.
,
Katz, M. S.
,
Lee, A. T.
,
Diamond, B.
,
Gregersen, P. K.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 235 KB
Your tags:
english, 2012
11
Early transcriptional changes linked to naturally occurring Huntington's disease mutations in neural derivatives of human embryonic stem cells
Feyeux, M.
,
Bourgois-Rocha, F.
,
Redfern, A.
,
Giles, P.
,
Lefort, N.
,
Aubert, S.
,
Bonnefond, C.
,
Bugi, A.
,
Ruiz, M.
,
Deglon, N.
,
Jones, L.
,
Peschanski, M.
,
Allen, N. D.
,
Perrier, A. L.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 631 KB
Your tags:
english, 2012
12
Evidence for an oligogenic basis of amyotrophic lateral sclerosis
van Blitterswijk, M.
,
van Es, M. A.
,
Hennekam, E. A. M.
,
Dooijes, D.
,
van Rheenen, W.
,
Medic, J.
,
Bourque, P. R.
,
Schelhaas, H. J.
,
van der Kooi, A. J.
,
de Visser, M.
,
de Bakker, P. I. W.
,
Veldink, J.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 321 KB
Your tags:
english, 2012
13
Early complex I assembly defects result in rapid turnover of the ND1 subunit
Zurita Rendon, O.
,
Shoubridge, E. A.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 376 KB
Your tags:
english, 2012
14
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation
Maltecca, F.
,
De Stefani, D.
,
Cassina, L.
,
Consolato, F.
,
Wasilewski, M.
,
Scorrano, L.
,
Rizzuto, R.
,
Casari, G.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 564 KB
Your tags:
english, 2012
15
Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows
Cheval, H.
,
Guy, J.
,
Merusi, C.
,
De Sousa, D.
,
Selfridge, J.
,
Bird, A.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 360 KB
Your tags:
english, 2012
16
Cover Page
Journal:
Human Molecular Genetics
Year:
2012
File:
PDF, 1.55 MB
Your tags:
2012
17
Editorial Board
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 22 KB
Your tags:
english, 2012
18
Loss of function of Ifi202b by a microdeletion on chromosome 1 of C57BL/6J mice suppresses 11 -hydroxysteroid dehydrogenase type 1 expression and development of obesity
Vogel, H.
,
Scherneck, S.
,
Kanzleiter, T.
,
Benz, V.
,
Kluge, R.
,
Stadion, M.
,
Kryvych, S.
,
Bluher, M.
,
Kloting, N.
,
Joost, H.-G.
,
Schurmann, A.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 633 KB
Your tags:
english, 2012
19
Subscription Page
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 31 KB
Your tags:
english, 2012
20
Amyloid precursor protein (APP) contributes to pathology in the SOD1G93A mouse model of amyotrophic lateral sclerosis
Bryson, J. B.
,
Hobbs, C.
,
Parsons, M. J.
,
Bosch, K. D.
,
Pandraud, A.
,
Walsh, F. S.
,
Doherty, P.
,
Greensmith, L.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 533 KB
Your tags:
english, 2012
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