المؤلفون: Leray, Xavier, Conti, Rossella, Li, Yan, Debacker, Cécile, Castelli, Florence, Fenaille, François, Zdebik, Anselm A., Pusch, Michael, Gasnier, Bruno

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2021 Aug 01. 118(32), 1-10.

URL الوصول: https://www.jstor.org/stable/27052787

المؤلفون: Wager, Kim, Zdebik, Anselm A, Fu, Sonia, Cooper, Jonathan D, Harvey, Robert J, Russell, Claire

المصدر: PloS one. 11(6)

مصطلحات موضوعية: Myocardium, Brain, Axons, Retina, Lysosomes, Animals, Zebrafish, Epilepsy, Disease Models, Animal, Gliosis, Nerve Degeneration, Mitochondrial Proton-Translocating ATPases, Zebrafish Proteins, Protein Subunits, RNA, Antisense, Electroencephalography, Survival Analysis, Behavior, Animal, Motor Activity, Apoptosis, Cell Proliferation, Neuronal Ceroid-Lipofuscinoses, Gene Knockdown Techniques, Morpholinos, Behavior, Animal, Disease Models, RNA, Antisense, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9fw5n8x3

المؤلفون: Lo, Jacky, Forst, Anna-Lena, Warth, Richard, Zdebik, Anselm A.

مصطلحات موضوعية: 570 Biowissenschaften, Biologie, ddc:570

وصف الملف: application/pdf

Relation: https://epub.uni-regensburg.de/52018/1/fphys-13-852674.pdf; https://epub.uni-regensburg.de/52018/7/Warth_Frontiers_2022-0545228-3_16444194684941644419468494_1.pdf; Lo, Jacky, Forst, Anna-Lena , Warth, Richard und Zdebik, Anselm A. (2022) EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies. Frontiers in Physiology 2022 (13), S. 852674.

الاتاحة: https://epub.uni-regensburg.de/52018/
https://epub.uni-regensburg.de/52018/1/fphys-13-852674.pdf
https://epub.uni-regensburg.de/52018/7/Warth_Frontiers_2022-0545228-3_16444194684941644419468494_1.pdf
https://doi.org/10.3389/fphys.2022.852674
https://www.frontiersin.org/articles/10.3389/fphys.2022.852674/full#h1

المؤلفون: Schlingmann, Karl P., Renigunta, Aparna, Hoorn, Ewout J., Forst, Anna-Lena, Renigunta, Vijay, Atanasov, Velko, Mahendran, Sinthura, Barakat, Tahsin Stefan, Gillion, Valentine, Godefroid, Nathalie, Brooks, Alice S., Lugtenberg, Dorien, Lake, Jennifer, Debaix, Huguette, Rudin, Christoph, Knebelmann, Bertrand, Tellier, Stephanie, Rousset-Rouvière, Caroline, Viering, Daan, de Baaij, Jeroen H. F., Weber, Stefanie, Palygin, Oleg, Staruschenko, Alexander, Kleta, Robert, Houillier, Pascal, Bockenhauer, Detlef, Devuyst, Olivier, Vargas-Poussou, Rosa, Warth, Richard, Zdebik, Anselm A., Konrad, Martin

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service de néphrologie, UCL - (SLuc) Service de néphrologie pédiatrique

المصدر: Journal of the American Society of Nephrology, Vol. 32, no. 6, p. 1498-1512 (2021)

مصطلحات موضوعية: Nephrology, General Medicine

Relation: boreal:250524; http://hdl.handle.net/2078.1/250524; info:pmid/; urn:ISSN:1046-6673; urn:EISSN:1533-3450

الاتاحة: http://hdl.handle.net/2078.1/250524
https://doi.org/10.1681/asn.2020111587

المؤلفون: Leray, Xavier, Anne, Christine, Li, Yan, Zdebik, Anselm, A, Gasnier, Bruno

المساهمون: Laboratoire de Neurophotonique (UMR 8250), Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), University College of London London (UCL), Cystinosis Research Foundation

المصدر: Fifth International Cystinosis Research Symposium ; https://hal.inrae.fr/hal-04652904 ; Fifth International Cystinosis Research Symposium, Mar 2016, Irvine, CA, United States

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

جغرافية الموضوع: Irvine, CA, United States

Relation: hal-04652904; https://hal.inrae.fr/hal-04652904; https://hal.inrae.fr/hal-04652904/document; https://hal.inrae.fr/hal-04652904/file/160303_Poster_CRF_PQLC2_XL_vf.pdf

الاتاحة: https://hal.inrae.fr/hal-04652904
https://hal.inrae.fr/hal-04652904/document
https://hal.inrae.fr/hal-04652904/file/160303_Poster_CRF_PQLC2_XL_vf.pdf

المؤلفون: Chambrey, Régine, Kurth, Ingo, Peti-Peterdi, Janos, Houillier, Pascal, Purkerson, Jeffrey M., Leviel, Françoise, Hentschke, Moritz, Zdebik, Anselm A., Schwartz, George J., Hübner, Christian A., Eladari, Dominique

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2013 May 01. 110(19), 7928-7933.

URL الوصول: https://www.jstor.org/stable/42656407

المؤلفون: Leray, Xavier, Li, Yan, Zdebik, Anselm, A, Gasnier, Bruno

المساهمون: Laboratoire de Neurophotonique (UMR 8250), Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), University College of London London (UCL), Haoxing Xu and Enrico Martinoia

المصدر: Gordon Research Conference (GRC) on Organellar Channels and Transporters ; https://hal.inrae.fr/hal-04652959 ; Gordon Research Conference (GRC) on Organellar Channels and Transporters, Jun 2015, West Dover, VT, United States

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

جغرافية الموضوع: West Dover, VT, United States

Relation: hal-04652959; https://hal.inrae.fr/hal-04652959; https://hal.inrae.fr/hal-04652959/document; https://hal.inrae.fr/hal-04652959/file/2015_GRC_PQLC2_poster_v3%20copie.pdf

الاتاحة: https://hal.inrae.fr/hal-04652959
https://hal.inrae.fr/hal-04652959/document
https://hal.inrae.fr/hal-04652959/file/2015_GRC_PQLC2_poster_v3%20copie.pdf

المؤلفون: Reichold, Markus, Zdebik, Anselm A., Lieberer, Evelyn, Rapedius, Markus, Schmidt, Katharina, Bandulik, Sascha, Sterner, Christina, Tegtmeier, Ines, Penton, David, Baukrowitz, Thomas, Hulton, Sally-Anne, Witzgall, Ralph, Ben-Zeev, Bruria, Howie, Alexander J., Kleta, Robert, Bockenhauer, Detlef, Warth, Richard, Giebisch, Gerhard

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2010 Aug 01. 107(32), 14490-14495.

URL الوصول: https://www.jstor.org/stable/25708929

المؤلفون: Poët, Mallorie, Kornak, Uwe, Schweizer, Michaela, Zdebik, Anselm A., Scheel, Olaf, Hoelter, Sabine, Wurst, Wolfgang, Schmitt, Anja, Fuhrmann, Jens C., Planells-Cases, Rosa, Mole, Sara E., Hübner, Christian A., Jentsch, Thomas J.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2006 Sep 01. 103(37), 13854-13859.

URL الوصول: https://www.jstor.org/stable/30050345

المؤلفون: Leray, Xavier, Anne, Christine, Zdebik, Anselm, A, Gasnier, Bruno

المساهمون: Laboratoire de Neurophotonique (UMR 8250), Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), University College of London London (UCL), Cystinosis Research Foundation

المصدر: Fourth International Cystinosis Research Symposium ; https://hal.inrae.fr/hal-04652928 ; Fourth International Cystinosis Research Symposium, Feb 2014, Irvine, CA, United States

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

جغرافية الموضوع: Irvine, CA, United States

Relation: hal-04652928; https://hal.inrae.fr/hal-04652928; https://hal.inrae.fr/hal-04652928/document; https://hal.inrae.fr/hal-04652928/file/Poster%20CRF%20PQLC2.pdf

الاتاحة: https://hal.inrae.fr/hal-04652928
https://hal.inrae.fr/hal-04652928/document
https://hal.inrae.fr/hal-04652928/file/Poster%20CRF%20PQLC2.pdf

المؤلفون: Jezegou, Adrien, Leray, Xavier, Llinares, Elisa, Anne, Christine, Kieffer-Jaquinod, Sylvie, O'Regan, Seana, Sagné, Corinne, Debacker, Cecile, Journet, Agnès, André, Bruno, Zdebik, Anselm A, Gasnier, Bruno

المساهمون: Laboratoire de dynamique membranaire et maladies neurologiques (UMR 8192), Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Université libre de Bruxelles (ULB), Laboratoire de Biologie à Grande Échelle (BGE - UMR S1038), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA), Genetics and Chemogenomics (GenChem), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes 2016-2019 (UGA 2016-2019 )-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes 2016-2019 (UGA 2016-2019 )-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), University College of London London (UCL), Eduard Paschke

المصدر: 19th European Study Group on Lysosomal Diseases (ESGLD) Workshop
https://hal.inrae.fr/hal-04652798
19th European Study Group on Lysosomal Diseases (ESGLD) Workshop, Sep 2013, Seggau castle, Austria

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

جغرافية الموضوع: Seggau castle, Austria

Relation: hal-04652798; https://hal.inrae.fr/hal-04652798; https://hal.inrae.fr/hal-04652798/document; https://hal.inrae.fr/hal-04652798/file/Poster%20ESGLD%20PQLC2.pdf

الاتاحة: https://hal.inrae.fr/hal-04652798
https://hal.inrae.fr/hal-04652798/document
https://hal.inrae.fr/hal-04652798/file/Poster%20ESGLD%20PQLC2.pdf

المؤلفون: Evans, Rhys, Zdebik, Anselm, Ciurtin, Coziana, Walsh, Stephen B.

مصطلحات موضوعية: REVIEWS

وصف الملف: text/html

Relation: http://rheumatology.oxfordjournals.org/cgi/content/short/54/9/1541; http://dx.doi.org/10.1093/rheumatology/kev223

الاتاحة: http://rheumatology.oxfordjournals.org/cgi/content/short/54/9/1541
https://doi.org/10.1093/rheumatology/kev223

المؤلفون: Mencacci, Niccolo E., Rubio-Agusti, Ignacio, Zdebik, Anselm, Asmus, Friedrich, Ludtmann, Marthe H.R., Ryten, Mina, Plagnol, Vincent, Hauser, Ann-Kathrin, Bandres-Ciga, Sara, Bettencourt, Conceição, Forabosco, Paola, Hughes, Deborah, Soutar, Marc M.P., Peall, Kathryn, Morris, Huw R., Trabzuni, Daniah, Tekman, Mehmet, Stanescu, Horia C., Kleta, Robert, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Lohmann, Ebba, Weissbach, Anne, Klein, Christine, Hardy, John, Pittman, Alan M., Foltynie, Thomas, Abramov, Andrey Y., Gasser, Thomas, Bhatia, Kailash P., Wood, Nicholas W.

المصدر: The American Journal of Human Genetics ; volume 96, issue 6, page 938-947 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2015.04.008
https://api.elsevier.com/content/article/PII:S0002929715001457?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929715001457?httpAccept=text/plain

المؤلفون: Parrock, Sophie, Hussain, Sofia, Issler, Naomi, Differ, Ann-Marie, Lench, Nicholas, Guarino, Stefano, Oosterveld, Michiel J S, Keijzer-Veen, Mandy, Brilstra, Eva, van Wieringen, Hester, Konijnenberg, A Yvette, Amin-Rasip, Sarah, Dumitriu, Simona, Klootwijk, Enriko, Knoers, Nine, Bockenhauer, Detlef, Kleta, Robert, Zdebik, Anselm A

المصدر: Parrock , S , Hussain , S , Issler , N , Differ , A-M , Lench , N , Guarino , S , Oosterveld , M J S , Keijzer-Veen , M , Brilstra , E , van Wieringen , H , Konijnenberg , A Y , Amin-Rasip , S , Dumitriu , S , Klootwijk , E , Knoers , N , Bockenhauer , D , Kleta , R & Zdebik , A A 2013 , ' KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16 ' , Nephron Physiology , vol. 123 , no. 3-4 , ....

مصطلحات موضوعية: Alanine/genetics, Animals, Female, Genotype, Hearing Loss, Sensorineural/genetics, Humans, Intellectual Disability/genetics, Oocytes/metabolism, Patch-Clamp Techniques, Point Mutation, Potassium Channels, Inwardly Rectifying/chemistry, Protein Multimerization, Seizures/genetics, Sequence Analysis, DNA, Valine/genetics, Xenopus

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/9350f0ce-3b5c-46e7-a74d-15b37dfe1f69

الاتاحة: https://hdl.handle.net/11370/9350f0ce-3b5c-46e7-a74d-15b37dfe1f69
https://research.rug.nl/en/publications/9350f0ce-3b5c-46e7-a74d-15b37dfe1f69
https://doi.org/10.1159/000356353
https://pure.rug.nl/ws/files/76632303/356353.pdf

المؤلفون: Mahmood, Fahad, Mozere, Monika, Zdebik, Anselm A., Stanescu, Horia C., Tobin, Jonathan, Beales, Philip L., Kleta, Robert, Bockenhauer, Detlef, Russell, Claire

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://dmm.biologists.org/cgi/content/short/dmm.009480v1; http://dx.doi.org/10.1242/dmm.009480

الاتاحة: http://dmm.biologists.org/cgi/content/short/dmm.009480v1
https://doi.org/10.1242/dmm.009480

المؤلفون: Zdebik, Anselm A., Mahmood, Fahad, Stanescu, Horia C., Kleta, Robert, Bockenhauer, Detlef, Russell, Claire

المساهمون: Chacron, Maurice J.

المصدر: PLoS ONE ; volume 8, issue 11, page e79765 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0079765
http://dx.plos.org/10.1371/journal.pone.0079765

المؤلفون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Schlingmann, Karl P., Renigunta, Aparna, Hoorn, Ewout J., Forst, Anna-Lena, Renigunta, Vijay, Atanasov, Velko, Mahendran, Sinthura, Barakat, Tahsin Stefan, Gillion, Valentine, Godefroid, Nathalie, Brooks, Alice S., Lugtenberg, Dorien, Lake, Jennifer, Debaix, Huguette, Rudin, Christoph, Knebelmann, Bertrand, Tellier, Stephanie, Rousset-Rouvière, Caroline, Viering, Daan, de Baaij, Jeroen H. F., Weber, Stefanie, Palygin, Oleg, Staruschenko, Alexander, Kleta, Robert, Houillier, Pascal, Bockenhauer, Detlef, Devuyst, Olivier, Vargas-Poussou, Rosa, Warth, Richard, Zdebik, Anselm A., Konrad, Martin

المصدر: Journal of the American Society of Nephrology, Vol. 32, no.6, p. 1498-1512 (2021)

مصطلحات الفهرس: Nephrology, General Medicine, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/250524

المؤلفون: Fawcett, Katherine A, Murphy, Sinead M, Polke, James M, Wray, Selina, Burchell, Victoria S, Manji, Hadi, Quinlivan, Ros M, Zdebik, Anselm A, Reilly, Mary M, Houlden, Henry

مصطلحات موضوعية: Neuromuscular

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/jnnp-2012-303055v1; http://dx.doi.org/10.1136/jnnp-2012-303055

الاتاحة: http://jnnp.bmj.com/cgi/content/short/jnnp-2012-303055v1
https://doi.org/10.1136/jnnp-2012-303055

المؤلفون: Zdebik, Anselm A.

المصدر: The Journal of Physiology ; volume 589, issue 24, page 5903-5903 ; ISSN 0022-3751 1469-7793

الاتاحة: http://dx.doi.org/10.1113/jphysiol.2011.221754
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1113%2Fjphysiol.2011.221754
https://physoc.onlinelibrary.wiley.com/doi/pdf/10.1113/jphysiol.2011.221754

المؤلفون: Jentsch, Thomas J., Maritzen, Tanja, Keating, Damien J., Zdebik, Anselm A., Thévenod, Frank

المصدر: Cell Metabolism ; volume 12, issue 4, page 307-308 ; ISSN 1550-4131

الاتاحة: http://dx.doi.org/10.1016/j.cmet.2010.08.014
https://api.elsevier.com/content/article/PII:S1550413110003013?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1550413110003013?httpAccept=text/plain