المؤلفون: Hollstein, R, Parry, D.A, Nalbach, L, Logan, C.V, Strom, T.M, Hartill, V.L, Carr, I.M, Korenke, G.C, Uppal, S, Ahmed, M, Wieland, T, Markham, A.F, Bennett, C.P, Gillessen-Kaesbach, G, Sheridan, E.G, Kaiser, F.J, Bonthron, D.T

المساهمون: DEPT OF OTOLARYNGOLOGY

المصدر: Unpaywall 20201031

مصطلحات موضوعية: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase, ubiquitin protein ligase E3, unclassified drug, HACE1 protein, human, ubiquitin protein ligase, adolescent, adult, apraxia, Article, autosomal recessive disorder, autosomal recessive inheritance, chest infection, child, clinical article, cognitive defect, consanguinity, divergent strabismus, dystonic disorder, enzyme deficiency, epilepsy, exome, female, gait disorder, gene sequence, genetic variability, immobility, intellectual impairment, lordosis, loss of function mutation

العلاقة: Hollstein, R, Parry, D.A, Nalbach, L, Logan, C.V, Strom, T.M, Hartill, V.L, Carr, I.M, Korenke, G.C, Uppal, S, Ahmed, M, Wieland, T, Markham, A.F, Bennett, C.P, Gillessen-Kaesbach, G, Sheridan, E.G, Kaiser, F.J, Bonthron, D.T (2015). HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. Journal of Medical Genetics 52 (12) : 797-803. ScholarBank@NUS Repository. https://doi.org/10.1136/jmedgenet-2015-103344Test; https://scholarbank.nus.edu.sg/handle/10635/180093Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2015-103344Test
https://scholarbank.nus.edu.sg/handle/10635/180093Test

المؤلفون: Kopajtich R., Nicholls T. J., Rorbach J., Metodiev M. D., Freisinger P., Mandel H., Vanlander A., Ghezzi D., Carrozzo R., Taylor R. W., Marquard K., Murayama K., Wieland T., Schwarzmayr T., Mayr J. A., Pearce S. F., Powell C. A., Saada A., Ohtake A., Invernizzi F., Lamantea E., Sommerville E. W., Pyle A., Chinnery P. F., Crushell E., Okazaki Y., Kohda M., Kishita Y., Tokuzawa Y., Assouline Z., Rio M., Feillet F., Mousson De Camaret B., Chretien D., Munnich A., Menten B., Sante T., Smet J., Regal L., Lorber A., Khoury A., Zeviani M., Strom T. M., Meitinger T., Bertini E. S., Van Coster R., Klopstock T., Rotig A., Haack T. B., Minczuk M., Prokisch H.

المساهمون: Kopajtich, R., Nicholls, T. J., Rorbach, J., Metodiev, M. D., Freisinger, P., Mandel, H., Vanlander, A., Ghezzi, D., Carrozzo, R., Taylor, R. W., Marquard, K., Murayama, K., Wieland, T., Schwarzmayr, T., Mayr, J. A., Pearce, S. F., Powell, C. A., Saada, A., Ohtake, A., Invernizzi, F., Lamantea, E., Sommerville, E. W., Pyle, A., Chinnery, P. F., Crushell, E., Okazaki, Y., Kohda, M., Kishita, Y., Tokuzawa, Y., Assouline, Z., Rio, M., Feillet, F., Mousson De Camaret, B., Chretien, D., Munnich, A., Menten, B., Sante, T., Smet, J., Regal, L., Lorber, A., Khoury, A., Zeviani, M., Strom, T. M., Meitinger, T., Bertini, E. S., Van Coster, R., Klopstock, T., Rotig, A., Haack, T. B., Minczuk, M., Prokisch, H.

مصطلحات موضوعية: Acidosis, Lactic, Amino Acid Sequence, Brain, Brain Disease, Cardiomyopathy, Hypertrophic, Cell Line, Child, Preschool, Consanguinity, Female, Fibroblast, GTP-Binding Protein, Human, Infant, Newborn, Male, Molecular Sequence Data, Mutation, Pedigree, Protein Biosynthesi, RNA Interference, RNA, Transfer, Sequence Alignment, Protein Processing, Post-Translational

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25434004; info:eu-repo/semantics/altIdentifier/wos/WOS:000346623100007; volume:95; issue:6; firstpage:708; lastpage:720; numberofpages:13; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354208Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84919678076

الإتاحة: https://doi.org/10.1016/j.ajhg.2014.10.017Test
http://hdl.handle.net/11577/3354208Test

المؤلفون: Gai X., Ghezzi D., Johnson M. A., Biagosch C. A., Shamseldin H. E., Haack T. B., Reyes A., Tsukikawa M., Sheldon C. A., Srinivasan S., Gorza M., Kremer L. S., Wieland T., Strom T. M., Polyak E., Place E., Consugar M., Ostrovsky J., Vidoni S., Robinson A. J., Wong L. -J., Sondheimer N., Salih M. A., Al-Jishi E., Raab C. P., Bean C., Furlan F., Parini R., Lamperti C., Mayr J. A., Konstantopoulou V., Huemer M., Pierce E. A., Meitinger T., Freisinger P., Sperl W., Prokisch H., Alkuraya F. S., Falk M. J., Zeviani M.

المساهمون: Gai, X., Ghezzi, D., Johnson, M. A., Biagosch, C. A., Shamseldin, H. E., Haack, T. B., Reyes, A., Tsukikawa, M., Sheldon, C. A., Srinivasan, S., Gorza, M., Kremer, L. S., Wieland, T., Strom, T. M., Polyak, E., Place, E., Consugar, M., Ostrovsky, J., Vidoni, S., Robinson, A. J., Wong, L. -J., Sondheimer, N., Salih, M. A., Al-Jishi, E., Raab, C. P., Bean, C., Furlan, F., Parini, R., Lamperti, C., Mayr, J. A., Konstantopoulou, V., Huemer, M., Pierce, E. A., Meitinger, T., Freisinger, P., Sperl, W., Prokisch, H., Alkuraya, F. S., Falk, M. J., Zeviani, M.

مصطلحات موضوعية: Age of Onset, Child, Preschool, Chromosome, Human, Pair 6, DNA, Complementary, F-Box Protein, Female, Fibroblast, Gene, Recessive, HEK293 Cell, Infant, Newborn, Male, Mitochondria, Mitochondrial Encephalomyopathie, Mitochondrial Protein, Muscle, Skeletal, Mutant Protein, Mutation, Oxidative Phosphorylation, Pedigree, Protein Transport, Subcellular Fraction, Syndrome, Ubiquitin-Protein Ligase

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000330268900007; volume:93; issue:3; firstpage:482; lastpage:495; numberofpages:14; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11390/1237166Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84883780647

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.07.016Test
https://hdl.handle.net/11390/1237166Test

المؤلفون: Gai X., Ghezzi D., Johnson M. A., Biagosch C. A., Shamseldin H. E., Haack T. B., Reyes A., Tsukikawa M., Sheldon C. A., Srinivasan S., Gorza M., Kremer L. S., Wieland T., Strom T. M., Polyak E., Place E., Consugar M., Ostrovsky J., Vidoni S., Robinson A. J., Wong L. -J., Sondheimer N., Salih M. A., Al-Jishi E., Raab C. P., Bean C., Furlan F., Parini R., Lamperti C., Mayr J. A., Konstantopoulou V., Huemer M., Pierce E. A., Meitinger T., Freisinger P., Sperl W., Prokisch H., Alkuraya F. S., Falk M. J., Zeviani M.

المساهمون: Gai, X., Ghezzi, D., Johnson, M. A., Biagosch, C. A., Shamseldin, H. E., Haack, T. B., Reyes, A., Tsukikawa, M., Sheldon, C. A., Srinivasan, S., Gorza, M., Kremer, L. S., Wieland, T., Strom, T. M., Polyak, E., Place, E., Consugar, M., Ostrovsky, J., Vidoni, S., Robinson, A. J., Wong, L. -J., Sondheimer, N., Salih, M. A., Al-Jishi, E., Raab, C. P., Bean, C., Furlan, F., Parini, R., Lamperti, C., Mayr, J. A., Konstantopoulou, V., Huemer, M., Pierce, E. A., Meitinger, T., Freisinger, P., Sperl, W., Prokisch, H., Alkuraya, F. S., Falk, M. J., Zeviani, M.

مصطلحات موضوعية: Age of Onset, Child, Preschool, Chromosomes, Human, Pair 6, DNA, Complementary, F-Box Protein, Female, Fibroblast, Genes, Recessive, HEK293 Cell, Infant, Newborn, Male, Mitochondria, Mitochondrial Encephalomyopathie, Mitochondrial Protein, Muscle, Skeletal, Mutant Protein, Mutation, Oxidative Phosphorylation, Pedigree, Protein Transport, Subcellular Fraction, Syndrome, Ubiquitin-Protein Ligase

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23993194; info:eu-repo/semantics/altIdentifier/wos/WOS:000330268900007; volume:93; issue:3; firstpage:482; lastpage:495; numberofpages:14; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354222Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84883780647

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.07.016Test
http://hdl.handle.net/11577/3354222Test

المؤلفون: Mayr J. A., Haack T. B., Graf E., Zimmermann F. A., Wieland T., Haberberger B., Superti-Furga A., Kirschner J., Steinmann B., Baumgartner M. R., Moroni I., Lamantea E., Zeviani M., Rodenburg R. J., Smeitink J., Strom T. M., Meitinger T., Sperl W., Prokisch H.

المساهمون: Mayr, J. A., Haack, T. B., Graf, E., Zimmermann, F. A., Wieland, T., Haberberger, B., Superti-Furga, A., Kirschner, J., Steinmann, B., Baumgartner, M. R., Moroni, I., Lamantea, E., Zeviani, M., Rodenburg, R. J., Smeitink, J., Strom, T. M., Meitinger, T., Sperl, W., Prokisch, H.

مصطلحات موضوعية: Adult, Allele, Cardiomyopathie, Cataract, Child, Exome, Female, Heterozygote, Human, Infant, Newborn, Male, Mitochondria, Mitochondrial ADP, ATP Translocase, Mitochondrial Protein, Muscle, Phenotype, Phospholipid, Phosphotransferases (Alcohol Group Acceptor), Young Adult, Codon, Nonsense

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22284826; info:eu-repo/semantics/altIdentifier/wos/WOS:000300742200013; volume:90; issue:2; firstpage:314; lastpage:320; numberofpages:7; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354256Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84857043743

الإتاحة: https://doi.org/10.1016/j.ajhg.2011.12.005Test
http://hdl.handle.net/11577/3354256Test

المؤلفون: Mayr, J.A., Haack, T.B., Graf, E., Zimmermann, F.A., Wieland, T., Haberberger, B., Superti-Furga, A., Kirschner, J., Steinmann, B., Baumgartner, M.R., Moroni, I., Lamantea, E., Zeviani, M., Rodenburg, R.J., Smeitink, J., Strom, T.M., Meitinger, T., Sperl, W., Prokisch, H.

المصدر: American Journal of Human Genetics, vol. 90, no. 2, pp. 314-320

مصطلحات موضوعية: Adult, Alleles, Cardiomyopathies/enzymology, Cardiomyopathies/genetics, Cataract/enzymology, Cataract/genetics, Child, Codon, Nonsense, Exome, Female, Heterozygote, Humans, Infant, Newborn, Male, Mitochondria/enzymology, Mitochondria/genetics, Mitochondrial ADP, ATP Translocases/genetics, Mitochondrial Proteins/deficiency, Mitochondrial Proteins/genetics, Muscles/metabolism, Phenotype, Phospholipids/metabolism, Phosphotransferases (Alcohol Group Acceptor)/deficiency, Phosphotransferases (Alcohol Group Acceptor)/genetics, Young Adult

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22284826; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_8EF3EE6678B4Test; urn:issn:0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2011.12.005Test
https://serval.unil.ch/notice/serval:BIB_8EF3EE6678B4Test