Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death (English)
- New search for: Cao, S.
- New search for: Smith, L. L.
- New search for: Padilla-Lopez, S. R.
- New search for: Guida, B. S.
- New search for: Blume, E.
- New search for: Shi, J.
- New search for: Morton, S. U.
- New search for: Brownstein, C. A.
- New search for: Beggs, A. H.
- New search for: Kruer, M. C.
- New search for: Cao, S.
- New search for: Smith, L. L.
- New search for: Padilla-Lopez, S. R.
- New search for: Guida, B. S.
- New search for: Blume, E.
- New search for: Shi, J.
- New search for: Morton, S. U.
- New search for: Brownstein, C. A.
- New search for: Beggs, A. H.
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In:
HUMAN MOLECULAR GENETICS
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26
, 18
;
3545-3552
;
2017
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ISSN:
- Article (Journal) / Print
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Title:Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death
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Contributors:Cao, S. ( author ) / Smith, L. L. ( author ) / Padilla-Lopez, S. R. ( author ) / Guida, B. S. ( author ) / Blume, E. ( author ) / Shi, J. ( author ) / Morton, S. U. ( author ) / Brownstein, C. A. ( author ) / Beggs, A. H. ( author ) / Kruer, M. C. ( author )
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Published in:HUMAN MOLECULAR GENETICS ; 26, 18 ; 3545-3552
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Publisher:
- New search for: Oxford University Press
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Publication date:2017-01-01
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Size:8 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 572.8
- Further information on Dewey Decimal Classification
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Classification:
DDC: 572.8 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 26, Issue 18
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 3453
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Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemiaGrimaldi, M. / Karaca, M. / Latini, L. / Brioudes, E. / Schalch, T. / Maechler, P. et al. | 2017
- 3466
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Loss of native α-synuclein multimerization by strategically mutating its amphipathic helix causes abnormal vesicle interactions in neuronal cellsDettmer, U. / Ramalingam, N. / von Saucken, V. E. / Kim, T. E. / Newman, A. J. / Terry-Kantor, E. / Nuber, S. / Ericsson, M. / Fanning, S. / Bartels, T. et al. | 2017
- 3482
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Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotideVijayakumar, S. / Depreux, F. F. / Jodelka, F. M. / Lentz, J. J. / Rigo, F. / Jones, T. A. / Hastings, M. L. et al. | 2017
- 3495
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Age-dependent effects of Armc5 haploinsufficiency on adrenocortical functionBerthon, A. / Faucz, F. R. / Espiard, S. / Drougat, L. / Bertherat, J. / Stratakis, C. A. et al. | 2017
- 3508
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Evolution of the sperm methylome of primates is associated with retrotransposon insertions and genome instabilityFukuda, K. / Inoguchi, Y. / Ichiyanagi, K. / Ichiyanagi, T. / Go, Y. / Nagano, M. / Yanagawa, Y. / Takaesu, N. / Ohkawa, Y. / Imai, H. et al. | 2017
- 3520
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The neurosteroid pregnenolone reverts microtubule derangement induced by the loss of a functional CDKL5-IQGAP1 complexBarbiero, I. / Peroni, D. / Tramarin, M. / Chandola, C. / Rusconi, L. / Landsberger, N. / Kilstrup-Nielsen, C. et al. | 2017
- 3531
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Enhanced vulnerability of human proteins towards disease-associated inactivation through divergent evolutionMedina-Carmona, E. n. / Fuchs, J. E. / Gavira, J. A. / Mesa-Torres, N. / Neira, J. L. / Salido, E. / Palomino-Morales, R. / Burgos, M. / Timson, D. J. / Pey, A. L. et al. | 2017
- 3545
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Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early deathCao, S. / Smith, L. L. / Padilla-Lopez, S. R. / Guida, B. S. / Blume, E. / Shi, J. / Morton, S. U. / Brownstein, C. A. / Beggs, A. H. / Kruer, M. C. et al. | 2017
- 3553
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BMP4 uses several different effector pathways to regulate proliferation and differentiation in the epithelial and mesenchymal tissue compartments of the developing mouse ureterMamo, T. M. / Wittern, A. B. / Kleppa, M. J. / Bohnenpoll, T. / Weiss, A. C. / Kispert, A. et al. | 2017
- 3564
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Circular RNA profiling reveals that circular RNAs from ANXA2 can be used as new biomarkers for multiple sclerosisIparraguirre, L. / Muñoz-Culla, M. / Prada-Luengo, I. i. / Castillo-Triviño, T. / Olascoaga, J. / Otaegui, D. et al. | 2017
- 3573
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Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapyTorriano, S. / Erkilic, N. / Faugère, V. r. / Damodar, K. / Hamel, C. P. / Roux, A. F. / Kalatzis, V. et al. | 2017
- 3585
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Gene expression profiling of puberty-associated genes reveals abundant tissue and sex-specific changes across postnatal developmentHou, H. / Uusküla-Reimand, L. / Makarem, M. / Corre, C. / Saleh, S. / Metcalf, A. / Goldenberg, A. / Palmert, M. R. / Wilson, a. M. et al. | 2017
- 3600
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A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelinationStrachan, L. R. / Stevenson, T. J. / Freshner, B. / Keefe, M. D. / Miranda Bowles, D. / Bonkowsky, J. L. et al. | 2017
- 3615
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Amyotrophic lateral sclerosis-related mutant superoxide dismutase 1 aggregates inhibit 14-3-3-mediated cell survival by sequestration into the JUNQ compartmentPark, J. H. / Jang, H. R. / Lee, I. Y. / Oh, H. K. / Choi, E. J. / Rhim, H. / Kang, S. et al. | 2017
- 3630
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Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucomaProtas, M. E. / Weh, E. / Footz, T. / Kasberger, J. / Baraban, S. C. / Levin, A. V. / Katz, L. J. / Ritch, R. / Walter, M. A. / Semina, E. V. et al. | 2017
- 3639
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Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolutionMägi, R. / Horikoshi, M. / Sofer, T. / Mahajan, A. / Kitajima, H. / Franceschini, N. / McCarthy, M. I. / Morris, A. P. et al. | 2017
- 3651
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HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasiaOta, S. / Zhou, Z. Q. / Romero, M. P. / Yang, G. / Hurlin, P. J. et al. | 2017