المؤلفون: Abdraimova, S, Myrzayev, Z, Karimova, A, Talgatkyzy, A, Khaibullin, T, Kaishibayeva, G, Elubaeva, S, Esembekova, K, Choi, D, Martinez-Martin, P, Goetz, CG, Stebbins, GT, Luo, S, Shashkin, C, Zharkinbekova, N, Kaiyrzhanov, R

المصدر: Clinical Parkinsonism and Related Disorders , 10 , Article 100232. (2024)

مصطلحات موضوعية: MDS-UPDRS, Parkinson’s Disease, Rating scale, Validation

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10186404/1/1-s2.0-S259011252400001X-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10186404Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10186404/1/1-s2.0-S259011252400001X-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10186404Test/

المؤلفون: Richard, EM, Bakhtiari, S, Marsh, APL, Kaiyrzhanov, R, Wagner, M, Shetty, S, Pagnozzi, A, Nordlie, SM, Guida, BS, Cornejo, P, Magee, H, Liu, J, Norton, BY, Webster, R, Worgan, L, Hakonarson, H, Li, J, Guo, Y, Jain, M, Blesson, A, Rodan, LH, Abbott, M-A, Comi, A, Cohen, JS, Alhaddad, B, Meitinger, T, Lenz, D, Ziegler, A, Kotzaeridou, U, Brunet, T, Chassevent, A, Smith-Hicks, C, Ekstein, J, Weiden, T, Hahn, A, Zharkinbekova, N, Turnpenny, P, Tucci, A, Yelton, M, Horvath, R, Gungor, S, Hiz, S, Oktay, Y, Lochmuller, H, Zollino, M, Manuela, M, Marangi, G, Nigro, V, Torella, A, Pinelli, M, Amenta, S, Husain, RA, Grossmann, B, Rapp, M, Steen, C, Marquardt, I, Grimmel, M, Grasshoff, U, Korenke, GC, Owczarek-Lipska, M, Neidhardt, J, Radio, FC, Mancini, C, Sepulveda, DJC, Mc Walter, K, Begtrup, A, Crunk, A, Sacoto, MJG, Person, R, Schnur, RE, Mancardi, MM, Kreuder, F, Striano, P, Zara, F, Chung, WK, Marks, WA, van Eyk, CL, Webber, DL, Corbett, MA, Harper, K, Berry, JG, Mac Lennan, AH, Gecz, J, Tartaglia, M, Salpietro, V, Christodoulou, J, Kaslin, J, Padilla-Lopez, S, Bilguvar, K, Munchau, A, Ahmed, ZM, Hufnagel, RB, Fahey, MC, Maroofian, R, Houlden, H, Sticht, H, Mane, SM, LRad, A, Vona, B, Jin, SC, Haack, TB, Makowski, C, Hirsch, Y, Riazuddin, S, Kruer, MC

المصدر: American Journal of Human Genetics , 108 (10) pp. 2006-2016. (2021)

مصطلحات موضوعية: neurodevelopmental disorder, movement disorder, cerebral palsy, epilepsy, SPATA5L1, intellectual disability, AAA+ superfamily, ATPase, sensorineural hearing loss

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHG-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10139869Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHG-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10139869Test/

المؤلفون: Blauwendraat, C, Iwaki, H, Makarious, MB, Bandres-Ciga, S, Leonard, H, Grenn, FP, Lake, J, Krohn, L, Tan, M, Kim, JJ, Gibbs, JR, Hernandez, DG, Ruskey, JA, Pihlstrøm, L, Toft, M, van Hilten, JJ, Marinus, J, Schulte, C, Brockmann, K, Sharma, M, Siitonen, A, Majamaa, K, Eerola-Rautio, J, Tienari, PJ, Grosset, DG, Lesage, S, Corvol, J-C, Brice, A, Wood, N, Hardy, J, Gan-Or, Z, Heutink, P, Gasser, T, Morris, HR, Noyce, AJ, Nalls, MA, Singleton, AB, International Parkinson's Disease Genomics Consortium (IPDGC), Kaiyrzhanov, R, Middlehurst, B, Kia, DA, Houlden, H, Storm, CS, Plun-Favreau, H, Holmans, P, Trabzuni, D, Quinn, J, Bubb, V, Mok, KY, Kinghorn, KJ, Wood, NW, Lewis, P, Schreglmann, SR, Lovering, R, R'Bibo, L, Manzoni, C, Rizig, M, Ryten, M, Guelfi, S, Escott-Price, V, Chelban, V, Foltynie, T, Williams, N, Morrison, KE, Clarke, C, Harvey, K, Jacobs, BM, Danjou, F, Martinez, M, Simón-Sánchez, J, Rizzu, P, Schneider, SA, Cookson, MR, Craig, DW, Billingsley, K, Narendra, DP, Faghri, F, Van Keuren-Jensen, K, Shulman, JM, Leonard, HL, Robak, L, Bras, J, Guerreiro, R, Lubbe, S, Troycoco, T, Finkbeiner, S, Mencacci, NE, Lungu, C, Scholz, SW, Reed, X, Uitti, RJ, Ross, OA, Moore, A, Alcalay, RN, Wszolek, ZK, Rouleau, GA, Mufti, K, Adarmes-Gómez, AD, Aguilar, M, Alvarez, I, Alvarez, V, Barrero, FJ, Yarza, JAB, Bernal-Bernal, I, Blazquez, M, Bonilla-Toribio, M, Botía, JA, Boungiorno, MT, Buiza-Rueda, D, Cámara, A, 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, Feliz, C, Fernández, M, Fernández-Santiago, R, Garcia, C, García-Ruiz, P, Gómez-Garre, P, Heredia, MJG, Gonzalez-Aramburu, I, Pagola, AG, Hoenicka, J, Infante, J, Jesús, S, Jimenez-Escrig, A, Kulisevsky, J, Labrador-Espinosa, MA, Lopez-Sendon, JL, de Munain Arregui, AL, Macias, D, Torres, IM, Marín, J, Marti, MJ, Martínez-Castrillo, JC, Méndez-Del-Barrio, C, González, MM, Mata, M, Mínguez, A, Mir, P, Rezola, EM, Muñoz, E, Pagonabarraga, J, Pastor, P, Errazquin, FP, Periñán-Tocino, T, Ruiz-Martínez, J, Ruz, C, Rodriguez, AS, Sierra, M, Suarez-Sanmartin, E, Tabernero, C, Tartari, JP, Tejera-Parrado, C, Tolosa, E, Valldeoriola, F, Vargas-González, L, Vela, L, Vives, F, Zimprich, A, Pihlstrom, L, Taba, P, Koks, S, Hassin-Baer, S, Tienari, P, Okubadejo, NU, Ojo, OO, Shashkin, C, Zharkinbekova, N, Akhmetzhanov, V, Kaishybayeva, G, Karimova, A, Khaibullin, T, Lynch, TL

المصدر: Annals of Neurology , 90 (1) pp. 35-42. (2021)

مصطلحات موضوعية: GWAS, Parkinson's disease, autosomes, genetics, sex

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10127223/9/Noyce_Annals%20of%20Neurology%20-%202021%20-%20Blauwendraat%20-%20Investigation%20of%20Autosomal%20Genetic%20Sex%20Differences%20in%20Parkinson%20s%20Disease.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10127223Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10127223/9/Noyce_Annals%20of%20Neurology%20-%202021%20-%20Blauwendraat%20-%20Investigation%20of%20Autosomal%20Genetic%20Sex%20Differences%20in%20Parkinson%20s%20Disease.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10127223Test/

المؤلفون: Storm, Catherine S., Kia, Demis A., Almramhi, Mona M., Bandres-Ciga, Sara, Finan, Chris, Noyce, A. J., Kaiyrzhanov, R., Middlehurst, B., Tan, M., Houlden, Henry, Morris, H. R., Plun-Favreau, H., Holmans, Peter, Hardy, J., Trabzuni, D., Quinn, J., Bubb, Vivien, Mok, K. Y., Kinghorn, K. J., Lewis, P., Schreglmann, S. R., Lovering, R., R'Bibo, L., Manzoni, C., Rizig, M., Ryten, Mina, Guelfi, S., Escott-Price, Valentina, Chelban, Viorica, Foltynie, T., Williams, N., Morrison, K. E., Clarke, C., Harvey, K., Jacobs, B. M., Brice, Alexis, Danjou, Fabrice, Lesage, S., Corvol, Jean-Christophe, Martinez, M., Schulte, C., Brockmann, Kathrin, Simón-Sánchez, J., Heutink, Peter, Rizzu, P., Sharma, M., Gasser, T., Schneider, S. A., Cookson, Mark R, Blauwendraat, Cornelis, Craig, David W, Billingsley, K., Makarious, M. B., Narendra, D. P., Faghri, F., Gibbs, J. R., Hernandez, D. G., Van Keuren-Jensen, K., Shulman, J. M., Iwaki, H., Leonard, H. L., Nalls, M. A., Robak, L., Bras, Jose, Guerreiro, Rita, Lubbe, S., Troycoco, T., Finkbeiner, S., Mencacci, N. E., Lungu, C., Singleton, A. B., Scholz, S. W., Reed, X., Uitti, R. J., Ross, O. A., Grenn, F. P., Moore, A., Alcalay, Roy N, Wszolek, Z. K., Gan-Or, Z., Rouleau, G. A., Krohn, L., Mufti, K., van Hilten, J. J., Marinus, J., Adarmes-Gómez, A.D, Aguilar Barberà , Miquel, Alvarez, Ignacio, Alvarez, Victoria, Barrero, F. J., Yarza, J. A. B., Bernal-Bernal, I., Blázquez Estrada, Marta, Bonilla-Toribio, Marta, Botía, J. A., Boungiorno, M. T., Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, F., Carrión-Claro, M., Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, M., Dols Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Garcia, C., García-Ruiz, Pedro, Gómez-Garre, P., Gomez Heredia, Maria Jose, Gonzalez-Aramburu, Isabel, Pagola, A. G., Hoenicka, Janet, Infante, Jon, Jesús, S., Jiménez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, Lopez-Sendon, Jose Luis, de Munain Arregui, A. L., Macías-García, Daniel, Torres, I. M., Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Méndez-del-Barrio, C., González, M. M., Mata, Marina, Mínguez, A., Mir, P., Rezola, E. M., Muñoz, Esteban, Pagonabarraga Mora, Javier, Pastor, Pau, Perez-Errazquin, Francisco, Periñán-Tocino, T., Ruiz-Martínez, J., Ruz, Clara, Rodriguez, A. S., Sierra, Maria, Suarez-Sanmartin, E., Tabernero, Cesar, Tartari, J. P., Tejera-Parrado, C., Tolosa, Eduard, Valldeoriola, Francesc, Vargas-González, L., Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, L., Toft, M., Taba, P., Koks, S., Hassin-Baer, S., Majamaa, K., Siitonen, A., Tienari, P., Okubadejo, N. U., Ojo, O. O., Shashkin, C., Zharkinbekova, N., Akhmetzhanov, V., Kaishybayeva, G., Karimova, A., Khaibullin, T., Lynch, T. L., Hingorani, Aroon, Wood, Nicholas W., Universitat Autònoma de Barcelona

مصطلحات موضوعية: Brain, Case-Control Studies, Cohort Studies, Disease Progression, Gene Expression Regulation, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Humans, Mendelian Randomization Analysis, Parkinson Disease, Quantitative Trait Loci, Risk Factors

وصف الملف: application/pdf

العلاقة: Nature communications; Vol. 12 Núm. 1 (december 2021), p. 7342; https://ddd.uab.cat/record/264453Test; urn:10.1038/s41467-021-26280-1; urn:oai:ddd.uab.cat:264453; urn:scopus_id:85121559630; urn:pmid:34930919; urn:articleid:20411723v12n1p7342; urn:pmc-uid:8688480; urn:pmcid:PMC8688480; urn:oai:pubmedcentral.nih.gov:8688480; urn:oai:egreta.uab.cat:publications/426a8b4f-45a1-4552-a802-00b4bd33edfc

الإتاحة: https://ddd.uab.cat/record/264453Test

المؤلفون: Kaiyrzhanov, R, Zharkinbekova, N, Shashkin, C, Khaibullin, T, Kaishibayeva, G, Akhmetzhanov, V, Sadykova, DZ, Seidinova, Z, Taskinbayeva, A, Karimova, A, Rizig, M, Houlden, H

المصدر: Journal of Parkinson’s Disease , 10 (2) pp. 707-709. (2020)

مصطلحات موضوعية: Parkinson’s disease, Parkinson’s disease in Asia, Central Asia, age of onset, progression

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10096337/1/jpd_2020_10-2_jpd-10-2-jpd191782_jpd-10-jpd191782.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10096337Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10096337/1/jpd_2020_10-2_jpd-10-2-jpd191782_jpd-10-jpd191782.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10096337Test/

المؤلفون: Kaiyrzhanov, R, Aitkulova, A, Shashkin, C, Zharkinbekova, N, Rizig, M, Zholdybayeva, E, Jarmukhanov, Z, Akhmetzhanov, V, Kaishibayeva, G, Khaibullin, T, Karimova, A, Akshulakov, S, Bralov, A, Kissamedenov, N, Seidinova, Z, Taskinbayeva, A, Muratbaikyzy, A, Houlden, H

المصدر: Parkinson's Disease , Article 2763838. (2020)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10093470/1/2763838.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10093470Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10093470/1/2763838.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10093470Test/

المؤلفون: Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., Rodan, L. H., Abbott, M. A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., McWalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., MacLennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S., Kruer, M. C.

مصطلحات موضوعية: ATPases Associated with Diverse Cellular Activities/genetics, Adolescent, Adult, Alleles, Animals, Cerebral Palsy/etiology/metabolism/*pathology, Child, Preschool, Epilepsy/etiology/metabolism/*pathology, Female, Genetic Predisposition to Disease, Genetic Variation, Hearing Loss/etiology/metabolism/*pathology, Humans, Infant, Newborn, Intellectual Disability/etiology/metabolism/*pathology, Male, Muscle Spasticity/etiology/metabolism/*pathology, Rats, Young Adult, AAA+ superfamily, ATPase, spata5l1, cerebral palsy, epilepsy, intellectual disability, movement disorder, neurodevelopmental disorder, sensorineural hearing loss

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(21)00302-5; Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi:10.1016/j.ajhg.2021.08.003.; https://rde.dspace-express.com/handle/11287/622267Test; American journal of human genetics; PMC8546233

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.08.003Test
https://rde.dspace-express.com/handle/11287/622267Test

المؤلفون: Kaiyrzhanov, R, Rizig, M, Aitkulova, A, Zharkinbekova, N, Shashkin, C, Kaishibayeva, G, Karimova, A, Khaibullin, T, Sadykova, D, Ganieva, M, Rasulova, K, Houlden, H

المصدر: Parkinson’s Disease , 2019 , Article 2905739. (2019)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10082314/1/Houlden_Parkinson%27s%20Disease%20in%20Central%20Asian%20and%20Transcaucasian%20Countries_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10082314Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10082314/1/Houlden_Parkinson%27s%20Disease%20in%20Central%20Asian%20and%20Transcaucasian%20Countries_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10082314Test/

المؤلفون: Richard E. M., Bakhtiari S., Marsh A. P. L., Kaiyrzhanov R., Wagner M., Shetty S., Pagnozzi A., Nordlie S. M., Guida B. S., Cornejo P., Magee H., Liu J., Norton B. Y., Webster R. I., Worgan L., Hakonarson H., Li J., Guo Y., Jain M., Blesson A., Rodan L. H., Abbott M. -A., Comi A., Cohen J. S., Alhaddad B., Meitinger T., Lenz D., Ziegler A., Kotzaeridou U., Brunet T., Chassevent A., Smith-Hicks C., Ekstein J., Weiden T., Hahn A., Zharkinbekova N., Turnpenny P., Tucci A., Yelton M., Horvath R., Gungor S., Hiz S., Oktay Y., Lochmuller H., Zollino M., Morleo M., Marangi G., Nigro V., Torella A., Pinelli M., Amenta S., Husain R. A., Grossmann B., Rapp M., Steen C., Marquardt I., Grimmel M., Grasshoff U., Korenke G. C., Owczarek-Lipska M., Neidhardt J., Radio F. C., Mancini C., Claps Sepulveda D. J., McWalter K., Begtrup A., Crunk A., Guillen Sacoto M. J., Person R., Schnur R. E., Mancardi M. M., Kreuder F., Striano P., Zara F., Chung W. K., Marks W. A., van Eyk C. L., Webber D. L., Corbett M. A., Harper K., Berry J. G., MacLennan A. H., Gecz J., Tartaglia M., Salpietro V., Christodoulou J., Kaslin J., Padilla-Lopez S., Bilguvar K., Munchau A., Ahmed Z. M., Hufnagel R. B., Fahey M. C., Maroofian R., Houlden H., Sticht H., Mane S. M., Rad A., Vona B., Jin S. C., Haack T. B., Makowski C., Hirsch Y., Riazuddin S., Kruer M. C.

المساهمون: Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., Rodan, L. H., Abbott, M. -A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., Mcwalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., Maclennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C.

مصطلحات موضوعية: AAA+ superfamily, ATPase, cerebral palsy, epilepsy, intellectual disability, movement disorder, neurodevelopmental disorder, sensorineural hearing lo, SPATA5L1, ATPases Associated with Diverse Cellular Activitie, Adolescent, Adult, Allele, Animal, Child, Preschool, Female, Hearing Lo, Human, Infant, Newborn, Male, Muscle Spasticity, Rat, Young Adult, Genetic Predisposition to Disease, Genetic Variation

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000705304300014; volume:108; issue:10; firstpage:2006; lastpage:2016; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11588/873451Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116905632

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.08.003Test
http://hdl.handle.net/11588/873451Test

المؤلفون: Richard E. M., Bakhtiari S., Marsh A. P. L., Kaiyrzhanov R., Wagner M., Shetty S., Pagnozzi A., Nordlie S. M., Guida B. S., Cornejo P., Magee H., Liu J., Norton B. Y., Webster R. I., Worgan L., Hakonarson H., Li J., Guo Y., Jain M., Blesson A., Rodan L. H., Abbott M. -A., Comi A., Cohen J. S., Alhaddad B., Meitinger T., Lenz D., Ziegler A., Kotzaeridou U., Brunet T., Chassevent A., Smith-Hicks C., Ekstein J., Weiden T., Hahn A., Zharkinbekova N., Turnpenny P., Tucci A., Yelton M., Horvath R., Gungor S., Hiz S., Oktay Y., Lochmuller H., Zollino M., Morleo M., Marangi G., Nigro V., Torella A., Pinelli M., Amenta S., Husain R. A., Grossmann B., Rapp M., Steen C., Marquardt I., Grimmel M., Grasshoff U., Korenke G. C., Owczarek-Lipska M., Neidhardt J., Radio F. C., Mancini C., Claps Sepulveda D. J., McWalter K., Begtrup A., Crunk A., Guillen Sacoto M. J., Person R., Schnur R. E., Mancardi M. M., Kreuder F., Striano P., Zara F., Chung W. K., Marks W. A., van Eyk C. L., Webber D. L., Corbett M. A., Harper K., Berry J. G., MacLennan A. H., Gecz J., Tartaglia M., Salpietro V., Christodoulou J., Kaslin J., Padilla-Lopez S., Bilguvar K., Munchau A., Ahmed Z. M., Hufnagel R. B., Fahey M. C., Maroofian R., Houlden H., Sticht H., Mane S. M., Rad A., Vona B., Jin S. C., Haack T. B., Makowski C., Hirsch Y., Riazuddin S., Kruer M. C.

المساهمون: Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., Rodan, L. H., Abbott, M. -A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., Mcwalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., Maclennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C.

مصطلحات موضوعية: AAA+ superfamily, ATPase, cerebral palsy, epilepsy, intellectual disability, movement disorder, neurodevelopmental disorder, sensorineural hearing lo, SPATA5L1, ATPases Associated with Diverse Cellular Activitie, Adolescent, Adult, Allele, Animal, Child, Preschool, Female, Hearing Lo, Human, Infant, Newborn, Male, Muscle Spasticity, Rat, Young Adult, Genetic Predisposition to Disease, Genetic Variation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34626583; info:eu-repo/semantics/altIdentifier/wos/WOS:000705304300014; volume:108; issue:10; firstpage:2006; lastpage:2016; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11591/460732Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116905632

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.08.003Test
http://hdl.handle.net/11591/460732Test