المؤلفون: Rajech Sharkia, Abdelnaser Zalan, Hazar Zahalka, Amit Kessel, Ayman Asaly, Wasif Al-Shareef, Muhammad Mahajnah

المصدر: Genes; Volume 13; Issue 8; Pages: 1393

مصطلحات موضوعية: neuronal ceroid lipofuscinoses (NCL), CLN8 disease, CLN8 gene, compound heterozygous variant, neurodegenerative disease, bioinformatic analyses

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13081393Test

الإتاحة: https://doi.org/10.3390/genes13081393Test

المؤلفون: Hudson, N.J, Baker, M.L, Hart, N.S, Wynne, J.W, Gu, Q, Huang, Z, Zhang, G, Ingham, A.B, Wang, L, Reverter, A

المساهمون: DUKE-NUS MEDICAL SCHOOL

المصدر: Unpaywall 20201031

مصطلحات موضوعية: Article, bat, CLN8 gene, codon usage, consonant, CRX gene, CRYBB1 gene, CYP1A2 gene, echolocation, fox, gain of function mutation, genetic variability, genome analysis, GPX1 gene, GRK7 gene, GUCY2F gene, hearing, Heterocephalus, HPS1 gene, IKZF1 gene, LAMC3 gene, MAP1A gene, natural selection, nonhuman, orthology, OTOF gene, OTOS gene, PRPH2 gene, pseudogene, RBP3 gene

العلاقة: Hudson, N.J, Baker, M.L, Hart, N.S, Wynne, J.W, Gu, Q, Huang, Z, Zhang, G, Ingham, A.B, Wang, L, Reverter, A (2014). Sensory rewiring in an echolocator: Genome-wide modification of retinogenic and auditory genes in the bat Myotis davidii. G3: Genes, Genomes, Genetics 4 (10) : 1825-1835. ScholarBank@NUS Repository. https://doi.org/10.1534/g3.114.011262Test; https://scholarbank.nus.edu.sg/handle/10635/183706Test

الإتاحة: https://doi.org/10.1534/g3.114.011262Test
https://scholarbank.nus.edu.sg/handle/10635/183706Test

المؤلفون: Billingsley K.J., Barbosa I.A., Bandrés-Ciga S., Quinn J.P., Bubb V.J., Deshpande C., Botia J.A., Reynolds R.H., Zhang D., Simpson M.A., Blauwendraat C., Gan-Or Z., Gibbs J.R., Nalls M.A., Singleton A., Noyce A., Tucci A., Middlehurst B., Kia D., Tan M., Houlden H., Morris H.R., Plun-Favreau H., Holmans P., Hardy J., Trabzuni D., Bras J., Mok K., Kinghorn K., Wood N., Lewis P., Guerreiro R., Lovering R., R’Bibo L., Rizig M., Escott-Price V., Chelban V., Foltynie T., Williams N., Brice A., Danjou F., Lesage S., Martinez M., Giri A., Schulte C., Brockmann K., Simón-Sánchez J., Heutink P., Rizzu P., Sharma M., Gasser T., Nicolas A., Cookson M., Faghri F., Hernandez D., Shulman J., Robak L., Lubbe S., Finkbeiner S., Mencacci N., Lungu C., Scholz S., Reed X., Leonard H., Rouleau G., Krohan L., van Hilten J., Marinus J., Adarmes-Gómez A., Aguilar M., Alvarez I., Alvarez V., Javier Barrero F., Bergareche Yarza J., Bernal-Bernal I., Blazquez M., Bernal M.B.-T., Boungiorno M., Buiza-Rueda D., Cámara A., Carcel M., Carrillo F., Carrión-Claro M., Cerdan D., Clarimón J., Compta Y., Diez-Fairen M., Dols-Icardo O., Duarte J., Duran R., Escamilla-Sevilla F., Ezquerra M., Fernández M., Fernández-Santiago R., Garcia C., García-Ruiz P., Gómez-Garre P., Heredia M.G., Gonzalez-Aramburu I., Pagola A.G., Hoenicka J., Infante J., Jesús S., Jimenez-Escrig A., Kulisevsky J., Labrador-Espinosa M., Lopez-Sendon J., de Munain Arregui A.L., Macias D., Torres I.M., Marín J., Marti M.J., Martínez-Castrillo J., Méndez-del-Barrio C., Menéndez González M., Mínguez A., Mir P., Rezola E.M., Muñoz E., Pagonabarraga J., Pastor P., Errazquin F.P., Periñán-Tocino T., Ruiz-Martínez J., Ruz C., Rodriguez A.S., Sierra M., Suarez-Sanmartin E., Tabernero C., Tartari J.P., Tejera-Parrado C., Tolosa E., Valldeoriola F., Vargas-González L., Vela L., Vives F., Zimprich A., Pihlstrom L., Taba P., Majamaa K., Siitonen A., Okubadejo N., Ojo O., Ryten M., Koks S.

المصدر: npj Parkinsons Disease
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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مصطلحات موضوعية: genotype, Mendelian randomization analysis, CLN8 gene, MUC1 gene, genetic analysis, bioenergy, genetic risk, genetic risk score, Article, ATG14 gene, disorders of mitochondrial functions, MRPS34 gene, degenerative disease, mitochondrial gene, EP300 gene, gene mutation, human, MPI gene, gene, molecular phylogeny, LMBRD1 gene, genome-wide association study, monogenic disorder, mitochondrial dynamics, Parkinson disease, E2F1 gene, mitophagy, CAPRIN2 gene, priority journal, risk factor, LGALS3 gene, disease exacerbation, gene expression, gene ontology, meta analysis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::9375763f2b9ae8b0fc7b9fdef2856c1fTest
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10173Test

المؤلفون: C. Aiello, N. Cannelli, J. D. Cooper, M. Haltia, R. Herva, U. Lahtinen, A. E. Lehesjoki, S. E. Mole, F. M. Santorelli, E. Siintola, SIMONATI, Alessandro

المساهمون: S.E. Mole, H. Goebel, R. Williams, C., Aiello, N., Cannelli, J. D., Cooper, M., Haltia, R., Herva, U., Lahtinen, A. E., Lehesjoki, S. E., Mole, F. M., Santorelli, E., Siintola, Simonati, Alessandro

مصطلحات موضوعية: Protein CLN8, CLN8 gene, neuronal ceroid lipofuscinoses

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/isbn/9780199590018; ispartofbook:The neuronal ceroid lipofuscinoses (Batten disease); firstpage:189; lastpage:202; numberofpages:14; alleditors:S.E. Mole, H. Goebel, R. Williams; http://hdl.handle.net/11562/364166Test

الإتاحة: http://hdl.handle.net/11562/364166Test

المؤلفون: Aiello, C., Cannelli, N., Cooper, J. D., Haltia, M., Herva, R., Lahtinen, U., Lehesjoki, A. E., Mole, S. E., Santorelli, F. M., Siintola, E., Simonati, Alessandro

مصطلحات موضوعية: CLN8 gene, Protein CLN8, neuronal ceroid lipofuscinoses

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1943::1f0fac7728d2452bd6962f52f4d78ea5Test
http://hdl.handle.net/11562/364166Test