المؤلفون: Lee, MC, Nahorski, MS, Hockley, JRF, Lu, V, Ison, G, Pattison, LA, Callejo, G, Stouffer, K, Fletcher, E, Brown, C, Drissi, I, Wheeler, D, Ernfors, P, Menon, D, Reimann, F, Smith, ES, Woods, CG

المصدر: Cell reports. 32(3):107941

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:144246778

المؤلفون: Chen, YC, Auer-Grumbach, M, Matsukawa, S, Zitzelsberger, M, Themistocleous, AC, Strom, TM, Samara, C, Moore, AW, Cho, LTY, Young, GT, Weiss, C, Schabhuttl, M, Stucka, R, Schmid, AB, Parman, Y, Graul-Neumann, L, Heinritz, W, Passarge, E, Watson, RM, Hertz, JM, Moog, U, Baumgartner, M, Valente, EM, Pereira, D, Restrepo, CM, Katona, I, Dusl, M, Stendel, C, Wieland, T, Stafford, F, Reimann, F, Von Au, K, Finke, C, Willems, PJ, Nahorski, MS, Shaikh, SS, Carvalho, OP, Nicholas, AK, Karbani, G, McAleer, MA, Cilio, MR, McHugh, JC, Murphy, SM, Irvine, AD, Jensen, UB, Windhager, R, Weis, J, Bergmann, C, Rautenstrauss, B, Baets, J, De Jonghe, P, Reilly, MM, Kropatsch, R, Kurth, I, Chrast, R, Michiue, T, Bennett, DLH, Woods, CG, Senderek, J

المصدر: Nature genetics. 47(7):803

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:131562917

المؤلفون: Nahorski, MS, Borner, GHH, Shaikh, SS, Davies, AK, Al-Gazali, L, Antrobus, R, Woods, CG

المصدر: Nahorski , MS , Borner , GHH , Shaikh , SS , Davies , AK , Al-Gazali , L , Antrobus , R & Woods , CG 2018 , ' Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development. ' , Scientific Reports . https://doi.org/10.1038/s41598-018-19980-0

Relation: https://research.manchester.ac.uk/en/publications/30c72706-e83d-4817-9624-1fe37d930536

الاتاحة: https://research.manchester.ac.uk/en/publications/30c72706-e83d-4817-9624-1fe37d930536
https://doi.org/10.1038/s41598-018-19980-0
http://europepmc.org/abstract/med/29402896

المؤلفون: Nahorski, MS, Reiman, A, Lim, DHK, Nookala, RK, Seabra, L, Lu, XH, Fenton, J, Boora, U, Nordenskjold, M, Latif, F, Hurst, LD, Maher, ER

المصدر: Human mutation. 32(8):921-929

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:123077488

المؤلفون: Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P

المصدر: American Journal of Human Genetics, January 01, 2017

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/237791; https://eprints.ncl.ac.uk/fulltext.aspx?url=237791/9D11F881-3847-4190-84A3-AE5EB0BFDC49.pdf&pub_id=237791

الاتاحة: https://eprints.ncl.ac.uk/237791

المؤلفون: Hall, EA, Nahorski, MS, Murray, LM, Shaheen, R, Perkins, E, Dissanayake, KN, Kristaryanto, Y, Jones, RA, Vogt, J, Rivagorda, M, Handley, MT, Mali, GR, Quidwai, T, Soares, DC, Keighren, MA, McKie, L, Mort, RL, Gammoh, N, Garcia-Munoz, A, Davey, T, Vermeren, M, Walsh, D, Budd, P, Aligianis, IA, Faqeih, E, Quigley, AJ, Jackson, IJ, Kulathu, Y, Jackson, M, Ribchester, RR, von Kriegsheim, A, Alkuraya, FS, Woods, CG, Maher, ER, Mill, P

مصطلحات موضوعية: Phospholipase A2-activating protein, Ufd3, autophagy, cerebellum, endolysosomal trafficking, microcephaly, seizures, synapse, synaptic vesicle recycling, ubiquitin

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/264425

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/264425
https://doi.org/10.17863/CAM.9712

المؤلفون: Nahorski, MS, Seabra, L, Reiman, A, Lu, X, Maher, ER, Straatman-Iwanowska, A, Gissen, P, Wingenfeld, A, Hatzfeld, M, Klomp, JA, Teh, BT

المصدر: Human Molecular Genetics , 21 (24) 5268 - 5279. (2012)

وصف الملف: application/pdf; other

Relation: https://discovery.ucl.ac.uk/id/eprint/1368874/1/Nahorski_Human_Molecular_Genetics.pdf; https://discovery.ucl.ac.uk/id/eprint/1368874/2/Nahorski_Human_Molecular_Genetics_Supplementary_Data.pdf; https://discovery.ucl.ac.uk/id/eprint/1368874/3/Nahorski_Human_Molecular_Genetics_Supplementary_Figure_1.tif; https://discovery.ucl.ac.uk/id/eprint/1368874/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1368874/1/Nahorski_Human_Molecular_Genetics.pdf
https://discovery.ucl.ac.uk/id/eprint/1368874/2/Nahorski_Human_Molecular_Genetics_Supplementary_Data.pdf
https://discovery.ucl.ac.uk/id/eprint/1368874/3/Nahorski_Human_Molecular_Genetics_Supplementary_Figure_1.tif
https://discovery.ucl.ac.uk/id/eprint/1368874/

المؤلفون: Chavali PL, Stojic L, Meredith LW, Joseph N, Nahorski MS, Sanford TJ, Sweeney TR, Krishna BA, Hosmillo M, Firth AE, Bayliss R, Marcelis CL, Lindsay S, Goodfellow I, Woods CG, Gergely F

المصدر: Science, 1 June 2017

Relation: https://eprints.ncl.ac.uk/239928

الاتاحة: https://eprints.ncl.ac.uk/239928

المؤلفون: Chavali, PL, Stojic, L, Meredith, LW, Joseph, N, Nahorski, MS, Sanford, TJ, Sweeney, TR, Krishna, BA, Hosmillo, M, Firth, AE, Bayliss, R, Marcelis, CL, Lindsay, S, Goodfellow, I, Woods, CG, Gergely, F

وصف الملف: 83 - 88

Relation: SCIENCE; https://qmro.qmul.ac.uk/xmlui/handle/123456789/71745

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/71745
https://doi.org/10.1126/science.aam9243

المؤلفون: Nahorski, MS, Lim, D, Martin, L, Gille, J, McKay, K, Rehal, P, Ploeger, H, van Steensel, M, Tomlinson, I, Latif, F, Menko, F, Maher, E

Relation: https://ora.ox.ac.uk/objects/uuid:50ae6364-bfef-49bc-a670-6b0a23bf3ba6; https://doi.org/10.1136/jmg.2009.073304

الاتاحة: https://doi.org/10.1136/jmg.2009.073304
https://ora.ox.ac.uk/objects/uuid:50ae6364-bfef-49bc-a670-6b0a23bf3ba6

المؤلفون: Chen, YC, Auer-Grumbach, M, Matsukawa, S, Zitzelsberger, M, Themistocleous, AC, Strom, TM, Samara, C, Moore, AW, Cho, TY, Young, GT, Weiss, C, Schabhuttl, M, Stucka, R, Schmid, AB, Parman, Y, Graul-Neumann, L, Heinritz, W, Passarge, E, Watson, RM, Hertz, JM, Moog, U, Baumgartner, M, Valente, EM, Pereira, D, Restrepo, CM, Katona, I, Dusl, M, Stendel, C, Wieland, T, Stafford, F, Reimann, F, von Au, K, Finke, C, Willems, PJ, Nahorski, MS, Shaikh, SS, Carvalho, OP, Nicholas, AK, Karbani, G, McAleer, MA, Cilio, MR, McHugh, JC, Murphy, SM, Irvine, AD, Jensen, UB, Windhager, R, Weis, J, Bergmann, C, Rautenstrauss, B, Baets, J, De Jonghe, P, Reilly, MM, Kropatsch, R, Kurth, I, Chrast, R, Michiue, T, Bennett, DLH, Woods, CG, Senderek, J

المصدر: Nature genetics. 47(8):962-962

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:131711940

المؤلفون: Hall, EA, Nahorski, MS, Murray, LM, Shaheen, R, Perkins, E, Dissanayake, KN, Kristaryanto, Y, Jones, RA, Vogt, J, Rivagorda, M, Handley, MT, Mali, GR, Quidwai, T, Soares, DC, Keighren, MA, McKie, L, Mort, RL, Gammoh, N, Garcia-Munoz, A, Davey, T, Vermeren, M, Walsh, D, Budd, P, Aligianis, IA, Faqeih, E, Quigley, AJ, Jackson, IJ, Kulathu, Y, Jackson, M, Ribchester, RR, Von Kriegsheim, A, Alkuraya, FS, Woods, CG, Maher, ER, Mill, P

مصطلحات موضوعية: autophagy, Phospholipase A2-activating protein, Ufd3, cerebellum, synapse, ubiquitin, synaptic vesicle recycling, endolysosomal trafficking, microcephaly, 3. Good health, seizures

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e225e67e2ac0912fe89a91456bc03ba6