المؤلفون: Laugwitz, Lucia, Schoenmakers, Daphne H., Adang, Laura A., Beck-Woedl, Stefanie, Bergner, Caroline, Bernard, Geneviève, Bley, Annette, Boyer, Audrey, Calbi, Valeria, Dekker, Hanka, Eichler, Florian, Eklund, Erik, Fumagalli, Francesca, Gavazzi, Francesco, Grønborg, Sabine W., van Hasselt, Peter, Langeveld, Mirjam, Lindemans, Caroline, Mochel, Fanny, Oberg, Andreas, Ram, Dipak, Saunier-Vivar, Elise, Schöls, Ludger, Scholz, Michael, Sevin, Caroline, Zerem, Ayelet, Wolf, Nicole I., Groeschel, Samuel

المصدر: European Journal of Paediatric Neurology. 49:141-154

مصطلحات موضوعية: Delphi, Expert consensus, Gene therapy, Lysosomal storage disorder, Metachromatic leukodystrophy, Newborn screening, Medicin och hälsovetenskap, Klinisk medicin, Pediatrik, Medical and Health Sciences, Clinical Medicine, Pediatrics

URL الوصول: https://lup.lub.lu.se/record/73fb1988-71de-409a-be29-295031c53881
http://dx.doi.org/10.1016/j.ejpn.2024.03.003

المؤلفون: Posern, Christian, Dreyer, Benjamin, Maier, Sarah L., Eichler, Florian, Gelb, Michael H., Santer, René, Bley, Annette, Murko, Simona

المصدر: Molecular Genetics and Metabolism ; page 108489 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2024.108489
https://api.elsevier.com/content/article/PII:S1096719224003731?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719224003731?httpAccept=text/plain

المؤلفون: Nagy, Amanda, Eichler, Florian, Bley, Annette, Bredow, Janna, Fay, Alexander, Townsend, Elise L., Leiro, Beth, Shaywitz, Adam, Laforet, Genevieve, Crippen-Harmon, Danielle, Williams, Rachel

المصدر: Human Gene Therapy ; volume 36, issue 1-2, page 45-56 ; ISSN 1043-0342 1557-7422

الاتاحة: https://doi.org/10.1089/hum.2024.168
https://www.liebertpub.com/doi/full-xml/10.1089/hum.2024.168
https://www.liebertpub.com/doi/pdf/10.1089/hum.2024.168

المؤلفون: Adang, Laura A., Bonkowsky, Joshua L., Boelens, Jaap Jan, Mallack, Eric, Ahrens-Nicklas, Rebecca, Bernat, John A., Bley, Annette, Burton, Barbara, Darling, Alejandra, Eichler, Florian, Eklund, Erik, Emrick, Lisa, Escolar, Maria, Fatemi, Ali, Fraser, Jamie L., Gaviglio, Amy, Keller, Stephanie, Patterson, Marc C., Orchard, Paul, Orthmann-Murphy, Jennifer, Santoro, Jonathan D., Schöls, Ludger, Sevin, Caroline, Srivastava, Isha N., Rajan, Deepa, Rubin, Jennifer P., Van Haren, Keith, Wasserstein, Melissa, Zerem, Ayelet, Fumagalli, Francesca, Laugwitz, Lucia, Vanderver, Adeline

المصدر: Cytotherapy. 26(7):739-748

مصطلحات موضوعية: gene therapy, leukodystrophy, metachromatic leukodystrophy, newborn screening, transplant, Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medical and Health Sciences, Clinical Medicine, Neurology

URL الوصول: https://lup.lub.lu.se/record/f84e2183-0f44-443f-960b-666d41998c4a
http://dx.doi.org/10.1016/j.jcyt.2024.03.487

المؤلفون: Schoenmakers, Daphne H, Beerepoot, Shanice, Adang, Laura A, Asbreuk, Marije A B C, Bergner, Caroline G, Bley, Annette E, Boelens, Jaap-Jan, Calbi, Valeria, Darling, Alejandra, Eklund, Erik, Cazorla, Ángeles García, Grønborg, Sabine W, Groeschel, Samuel, Hasselt, Peter M van, Hollak, Carla E M, Horgan, Claire, Jones, Simon, Koning, Tom de, Laugwitz, Lucia, Lindemans, Caroline

المصدر: Protein & Cell; Jan2025, Vol. 16 Issue 1, p12-15, 4p

المؤلفون: Weinhofer, Isabelle, Rommer, Paulus, Gleiss, Andreas, Ponleitner, Markus, Zierfuss, Bettina, Waidhofer-Söllner, Petra, Fourcade, Stéphane, Grabmeier-Pfistershammer, Katharina, Reinert, Marie-Christine, Göpfert, Jens, Heine, Anne, Yska, Hemmo A.F., Casasnovas, Carlos, Cantarín, Verónica, Bergner, Caroline G., Mallack, Eric, Forss-Petter, Sonja, Aubourg, Patrick, Bley, Annette, Engelen, Marc, Eichler, Florian, Lund, Troy C., Pujol, Aurora, Köhler, Wolfgang, Kühl, Jörn-Sven, Berger, Johannes

المصدر: eBioMedicine ; volume 96, page 104781 ; ISSN 2352-3964

الاتاحة: http://dx.doi.org/10.1016/j.ebiom.2023.104781
https://api.elsevier.com/content/article/PII:S235239642300347X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S235239642300347X?httpAccept=text/plain

المؤلفون: Bettinger, Charlotte Maria, Dulz, Simon, Atiskova, Yevgeniya, Guerreiro, Helena, Schön, Gerhard, Guder, Philipp, Maier, Sarah Lena, Denecke, Jonas, Bley, Annette E.

المصدر: Journal of Clinical Medicine; Sep2024, Vol. 13 Issue 17, p5114, 22p

مصطلحات موضوعية: EYE movement disorders, OPTICAL coherence tomography, VISUAL evoked potentials, DISABILITIES, MAGNETIC resonance imaging, LEUKODYSTROPHY

المؤلفون: Metabole ziekten patientenzorg, Child Health, Infection & Immunity, SCT patientenzorg, Regenerative Medicine and Stem Cells, Laugwitz, Lucia, Schoenmakers, Daphne H., Adang, Laura A., Beck-Woedl, Stefanie, Bergner, Caroline, Bernard, Geneviève, Bley, Annette, Boyer, Audrey, Calbi, Valeria, Dekker, Hanka, Eichler, Florian, Eklund, Erik, Fumagalli, Francesca, Gavazzi, Francesco, Grønborg, Sabine W., van Hasselt, Peter, Langeveld, Mirjam, Lindemans, Caroline, Mochel, Fanny, Oberg, Andreas, Ram, Dipak, Saunier-Vivar, Elise, Schöls, Ludger, Scholz, Michael, Sevin, Caroline, Zerem, Ayelet, Wolf, Nicole I., Groeschel, Samuel

URL: https://doi.org/10.1016/j.ejpn.2024.03.003
http://hdl.handle.net/1874/452676
https://dspace.library.uu.nl/handle/1874/452676
http://www.scopus.com/inward/record.url?scp=85189006272&partnerID=8YFLogxK
1090-3798
European Journal of Paediatric Neurology
49
141
154

المؤلفون: Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, Van Spaendonk, Rosalina M. L., Naidu, Sakkubai, Pohl, Daniela, Gibson, William T., Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenco, Charles Marques, Bonkowsky, Joshua L., Catsman-Berrevoets, Coriene, Pinto, Pedro S., Tirupathi, Sandya, Strømme, Petter, De Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S., Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice M., Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M., Innes, A. Micheil, Kauffman, Marcelo, Kirwin, Susan M., Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I., Moutton, Sebastien, Murphy, Raymond P. J., Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özklnay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R., Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K., Stevens, CA, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, Van De Warrenburg, Bart P., Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, Van Der Knaap, Marjo S., Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I., Bernard, Genevieve

المصدر: 0021-972X.

Relation: http://urn.nb.no/URN:NBN:no-96185; Pelletier, Félixe Perrier, Stefanie Cayami, Ferdy K. Mirchi, Amytice Saikali, Stephan Tran, Luan T. Ulrick, Nicole Guerrero, Kether Rampakakis, Emmanouil Van Spaendonk, Rosalina M. L. Naidu, Sakkubai Pohl, Daniela Gibson, William T. Demos, Michelle Goizet, Cyril Tejera-Martin, Ingrid Potic, Ana Fogel, Brent Brais, Bernard Sylvain, Michel Sébire, Guillaume Lourenco, Charles Marques Bonkowsky, Joshua L. Catsman-Berrevoets, Coriene Pinto, Pedro S. Tirupathi, Sandya Strømme, Petter De Grauw, Ton Gieruszczak-Bialek, Dorota Krägeloh-Mann, Ingeborg Mierzewska, Hanna Philippi, Heike Rankin, Julia Atik, Tahir Banwell, Brenda Benko, William S. Blaschek, Astrid Bley, Annette Boltshauser, Eugen Bratkovic, Drago Brozova, Klara Cimas, Icíar Clough, Christopher Corenblum, Bernard Dinopoulos, Argirios Dolan, Gail Faletra, Flavio Fernandez, Raymond Fletcher, Janice M. Garcia Garcia, Maria Eugenia Gasparini, Paolo Gburek-Augustat, Janina Gonzalez Moron, Dolores Hamati, Aline Harting, Inga Hertzberg, Christoph Hill, Alan Hobson, Grace M. Innes, A. Micheil Kauffman, Marcelo Kirwin, Susan M. Kluger, Gerhard Kolditz, Petra Kotzaeridou, Urania La Piana, Roberta Liston, Eriskay McClintock, William McEntagart, Meriel McKenzie, Fiona Melançon, Serge Misbahuddin, Anjum Suri, Mohnish Monton, Fernando I. Moutton, Sebastien Murphy, Raymond P. J. Nickel, Miriam Onay, Hüseyin Orcesi, Simona Özklnay, Ferda Patzer, Steffi Pedro, Helio Pekic, Sandra Pineda Marfa, Mercedes Pizzino, Amy Plecko, Barbara Poll-The, Bwee Tien Popovic, Vera Rating, Dietz Rioux, Marie-France Rodriguez Espinosa, Norberto Ronan, Anne Ostergaard, John R. Rossignol, Elsa Sanchez-Carpintero, Rocio Schossig, Anna Senbil, Nesrin Sønderberg Roos, Laura K. Stevens, CA Synofzik, Matthis Sztriha, László Tibussek, Daniel Timmann, Dagmar Tonduti, Davide Van De Warrenburg, Bart P. Vázquez-López, Maria Venkateswaran, Sunita Wasling, Pontus Wassmer, Evangeline Webster, Richard Wiegand, Gert Yoon, Grace Rotteveel, Joost Schiffmann, Raphael Van Der Knaap, Marjo S. Vanderver, Adeline Martos-Moreno, Gabriel Á Polychronakos, Constantin Wolf, Nicole I. Bernard, Genevieve . Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. Journal of Clinical Endocrinology and Metabolism (JCEM). 2021, 106(2), E660-E674; http://hdl.handle.net/10852/93640; 2007358; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Journal of Clinical Endocrinology and Metabolism (JCEM)&rft.volume=106&rft.spage=E660&rft.date=2021; Journal of Clinical Endocrinology and Metabolism (JCEM); 106; e660; e674; https://doi.org/10.1210/clinem/dgaa700; URN:NBN:no-96185; Fulltext https://www.duo.uio.no/bitstream/handle/10852/93640/1/Pelletier_et_al_2021.pdf

الاتاحة: http://hdl.handle.net/10852/93640
http://urn.nb.no/URN:NBN:no-96185
https://doi.org/10.1210/clinem/dgaa700

المؤلفون: Schoenmakers, Daphne H, Beerepoot, Shanice, van den Berg, Sibren, Adang, Laura, Bley, Annette, Boelens, Jaap-Jan, Fumagalli, Francesca, Goettsch, Wim G, Grønborg, Sabine, Groeschel, Samuel, van Hasselt, Peter M, Hollak, Carla E M, Lindemans, Caroline, Mochel, Fanny, Mol, Peter G M, Sevin, Caroline, Zerem, Ayelet, Schöls, Ludger, Wolf, Nicole I

المصدر: Schoenmakers , D H , Beerepoot , S , van den Berg , S , Adang , L , Bley , A , Boelens , J-J , Fumagalli , F , Goettsch , W G , Grønborg , S , Groeschel , S , van Hasselt , P M , Hollak , C E M , Lindemans , C , Mochel , F , Mol , P G M , Sevin , C , Zerem , A , Schöls , L & Wolf , N I 2022 , ' Modified Delphi procedure-based expert consensus on endpoints for an international ....

الاتاحة: https://research.vumc.nl/en/publications/d77d6490-e523-48bb-b674-b2525614b224
https://doi.org/10.1186/s13023-022-02189-w
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85124618706&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/35164810

المؤلفون: Schoenmakers, Daphne H., Beerepoot, Shanice, van den Berg, Sibren, Adang, Laura, Bley, Annette, Boelens, Jaap Jan, Fumagalli, Francesca, Goettsch, Wim G., Grønborg, Sabine, Groeschel, Samuel, van Hasselt, Peter M., Hollak, Carla E.M., Lindemans, Caroline, Mochel, Fanny, Mol, Peter G.M., Sevin, Caroline, Zerem, Ayelet, Schöls, Ludger, Wolf, Nicole I.

المساهمون: CTI Nierkens, Infection & Immunity, Regenerative Medicine and Stem Cells, Metabole ziekten patientenzorg, Child Health

مصطلحات موضوعية: Consensus, Humans, Leukodystrophy, Metachromatic/genetics, Quality of Life, Registries, Retrospective Studies, Journal Article, Research Support, Non-U.S. Gov't

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/446000

الاتاحة: https://dspace.library.uu.nl/handle/1874/446000

المؤلفون: Bayat, Allan, Valles‐Ibáñez, Guillem, Pendziwiat, Manuela, Knaus, Alexej, Alt, Kerstin, Biamino, Elisa, Bley, Annette, Calvert, Sophie, Carney, Patrick, Caro‐Llopis, Alfonso, Ceulemans, Berten, Cousin, Janice, Davis, Suzanne, Portes, Vincent, Edery, Patrick, England, Eleina, Ferreira, Carlos, Freeman, Jeremy, Gener, Blanca, Gorce, Magali, Heron, Delphine, Hildebrand, Michael S., Jezela‐Stanek, Aleksandra, Jouk, Pierre‐Simon, Keren, Boris, Kloth, Katja, Kuhn, Marius, Lemke, Johannes R., Li, Hong, Martinez, Francisco, Maxton, Caroline, Mefford, Heather C., Merla, Giuseppe, Mierzewska, Hanna, Muir, Alison, Monfort, Sandra, Nicolai, Joost, Norman, Jennifer, O'Grady, Gina, Oleksy, Barbara, Orellana, Carmen, Orec, Laura Elena, Peinhardt, Charlotte, Pronicka, Ewa, Rosello, Monica, Santos‐Simarro, Fernando, Schwaibold, Eva Maria Christina, Stegmann, Alexander P.A., Stumpel, Constance T., Szczepanik, Elzbieta, Terczyńska, Iwona, Thevenon, Julien, Tzschach, Andreas, Van Bogaert, Patrick, Vittorini, Roberta, Walsh, Sonja, Weckhuysen, Sarah, Weissman, Barbara, Wolfe, Lynne, Reymond, Alexandre, De Nittis, Pasquelena, Poduri, Annapurna, Olson, Heather, Striano, Pasquale, Lesca, Gaetan, Scheffer, Ingrid E., Møller, Rikke S., Sadleir, Lynette G.

المصدر: 0013-9580 ; Epilepsia

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000757417200001

الاتاحة: https://hdl.handle.net/10067/1861900151162165141
https://repository.uantwerpen.be/docstore/d:irua:10884

المؤلفون: Bayat, Allan, de Valles-Ibáñez, Guillem, Pendziwiat, Manuela, Knaus, Alexej, Alt, Kerstin, Biamino, Elisa, Bley, Annette, Calvert, Sophie, Carney, Patrick, Caro-Llopis, Alfonso, Ceulemans, Berten, Cousin, Janice, Davis, Suzanne, des Portes, Vincent, Edery, Patrick, England, Eleina, Ferreira, Carlos, Freeman, Jeremy, Gener, Blanca, Gorce, Magali, Heron, Delphine, Hildebrand, Michael S., Jezela-Stanek, Aleksandra, Jouk, Pierre Simon, Keren, Boris, Kloth, Katja, Kluger, Gerhard, Kuhn, Marius, Lemke, Johannes R., Li, Hong, Martinez, Francisco, Maxton, Caroline, Mefford, Heather C., Merla, Giuseppe, Mierzewska, Hanna, Muir, Alison, Monfort, Sandra, Nicolai, Joost, Norman, Jennifer, O'Grady, Gina, Oleksy, Barbara, Orellana, Carmen, Orec, Laura Elena, Peinhardt, Charlotte, Pronicka, Ewa, Rosello, Monica, Santos-Simarro, Fernando, Schwaibold, Eva Maria Christina, Stegmann, Alexander P.A., Stumpel, Constance T, Szczepanik, Elzbieta, Terczyńska, Iwona, Thevenon, Julien, Tzschach, Andreas, Van Bogaert, Patrick, Vittorini, Roberta, Walsh, Sonja, Weckhuysen, Sarah, Weissman, Barbara, Wolfe, Lynne, Reymond, Alexandre, De Nittis, Pasquelena, Poduri, Annapurna, Olson, Heather, Striano, Pasquale, Lesca, Gaetan, Scheffer, Ingrid E., Møller, Rikke S., Sadleir, Lynette G.

المصدر: Bayat , A , de Valles-Ibáñez , G , Pendziwiat , M , Knaus , A , Alt , K , Biamino , E , Bley , A , Calvert , S , Carney , P , Caro-Llopis , A , Ceulemans , B , Cousin , J , Davis , S , des Portes , V , Edery , P , England , E , Ferreira , C , Freeman , J , Gener , B , Gorce , M , Heron , D , Hildebrand , M S , Jezela-Stanek , A , Jouk , P S ....

مصطلحات موضوعية: congenital disorder of glycosylation, developmental and epileptic encephalopathy, epilepsy, GPI-anchoring disorder, intellectual disability, Seizures/genetics, Humans, Epilepsy/diagnostic imaging, Electroencephalography, Intellectual Disability/diagnostic imaging, Drug Resistant Epilepsy, Phenotype, Female

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/b3915670-983a-4fd9-bd6f-e583b8ae2f43
https://doi.org/10.1111/epi.17173
https://findresearcher.sdu.dk/ws/files/203032570/epi.17173.pdf

المؤلفون: Schoenmakers, Daphne H, Beerepoot, Shanice, van Hasselt, Peter M, Hollak, Carla E M, Lindemans, Caroline, Mochel, Fanny, Mol, Peter G M, Sevin, Caroline, Zerem, Ayelet, Schöls, Ludger, Wolf, Nicole I, van den Berg, Sibren, Adang, Laura, Bley, Annette, Boelens, Jaap-Jan, Fumagalli, Francesca, Goettsch, Wim G, Grønborg, Sabine, Groeschel, Samuel

المصدر: Orphanet journal of rare diseases 17(1), 48 (2022). doi:10.1186/s13023-022-02189-w

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Consensus, Humans, Leukodystrophy, Metachromatic: genetics, Quality of Life, Registries, Retrospective Studies, Delphi procedure, MLD, Metachromatic leukodystrophy, Rare disease registry, Rare diseases

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1750-1172; info:eu-repo/semantics/altIdentifier/pmid/pmid:35164810; https://pub.dzne.de/record/163398; https://pub.dzne.de/search?p=id:%22DZNE-2022-00160%22

الاتاحة: https://pub.dzne.de/record/163398
https://pub.dzne.de/search?p=id:%22DZNE-2022-00160%22

المؤلفون: Bekri, Soumeya, Bley, Annette, Brown, Heather A., Chanson, Charlotte, Church, Heather J., Gelb, Michael H., Hong, Xinying, Janzen, Nils, Kasper, David C., Mechtler, Thomas, Morton, Georgina, Murko, Simona, Oliva, Petra, Tebani, Abdellah, Wu, Teresa H.Y.

المساهمون: National Institutes of Health

المصدر: Molecular Genetics and Metabolism ; volume 142, issue 1, page 108436 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2024.108436
https://api.elsevier.com/content/article/PII:S1096719224002518?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719224002518?httpAccept=text/plain

المؤلفون: Bley, Annette, Denecke, Jonas, Kohlschütter, Alfried, Schön, Gerhard, Hischke, Sandra, Guder, Philipp, Bierhals, Tatjana, Lau, Heather, Hempel, Maja, Eichler, Florian S.

المصدر: Orphanet Journal of Rare Diseases, 16(1), 227, (2021-05-19)

مصطلحات موضوعية: Leukodystrophy, Early childhood neurodegeneration, Aspartoacylase deficiency, Spongy degeneration of the brain, Canavan-van bogaert-bertrand disease

Relation: https://zenodo.org/communities/eu; oai:zenodo.org:4782752

الاتاحة: https://doi.org/10.1186/s13023-020-01659-3

المؤلفون: Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M. L., Naidu, Sakkubai, Pohl, Daniela, Gibson, William T., Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L., Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L., Catsman-Berrevoets, Coriene, Pinto, Pedro S., Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S., Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M., Innes, A. Micheil, Kauffman, Marcelo, Kirwin, Susan M., Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I., Moutton, Sebastien, Murphy, Raymond P. J., Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R., Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K., Stevens, Cathy A., Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P., Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I., Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S., Vanderver, Adeline, Martos-Moreno, Gabriel Á., Polychronakos, Constantin, Wolf, Nicole I., Bernard, Geneviève

المساهمون: Neurology, School of Medicine

المصدر: PMC

مصطلحات موضوعية: 4H leukodystrophy, POLR3-related leukodystrophy, Hypogonadotropic hypogonadism, Hypomyelination

وصف الملف: application/pdf

Relation: The Journal of Clinical Endocrinology & Metabolism; Pelletier F, Perrier S, Cayami FK, et al. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab. 2021;106(2):e660-e674. doi:10.1210/clinem/dgaa700; https://hdl.handle.net/1805/39314

الاتاحة: https://hdl.handle.net/1805/39314

المؤلفون: Guder, Philipp, Löbel, Ulrike, Fiebig, Britta, Oppermann, Ilena, Berger, Angelika, Bley, Annette

المصدر: Brain Disorders ; volume 2, page 100006 ; ISSN 2666-4593

الاتاحة: http://dx.doi.org/10.1016/j.dscb.2021.100006
https://api.elsevier.com/content/article/PII:S2666459321000056?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666459321000056?httpAccept=text/plain

المؤلفون: Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Van Eyck, Lien, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, Billette de Villemeur, Thierry, Bley, Annette E., Blumkin, Lubov, Boespflug‐Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Drake af Hagelsrum, Gunilla, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Martí Carrera, María Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie Christine, Oppermann, Ilena, Pérez Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodríguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Van Haren, Keith, Tomás Vila, Miguel, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J.

المساهمون: European Commission

مصطلحات موضوعية: Aicardi-Goutieres syndrome, IFIH1, MDA5, Singleton Merten syndrome, type I interferonopathy, function mutation, disease

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/H2020/786142; http://hdl.handle.net/10810/42692

الاتاحة: http://hdl.handle.net/10810/42692
https://doi.org/10.1002/humu.23975

المؤلفون: Harting, Inga, Al-Saady, Murtadha, Krägeloh-Mann, Ingeborg, Bley, Annette, Hempel, Maja, Bierhals, Tatjana, Karch, Stephanie, Moog, Ute, Bernard, Geneviève, Huntsman, Richard, van Spaendonk, Rosalina M.L., Vreeburg, Maaike, Rodríguez-Palmero, Agustí, Pujol, Aurora, van der Knaap, Marjo S., Pouwels, Petra J.W., Wolf, Nicole I.

المصدر: Harting , I , Al-Saady , M , Krägeloh-Mann , I , Bley , A , Hempel , M , Bierhals , T , Karch , S , Moog , U , Bernard , G , Huntsman , R , van Spaendonk , R M L , Vreeburg , M , Rodríguez-Palmero , A , Pujol , A , van der Knaap , M S , Pouwels , P J W & Wolf , N I 2020 , ' POLR3A variants with striatal involvement and extrapyramidal movement disorder ' , Neurogenetics , vol. 21 , no. 2 , pp. ....

الاتاحة: https://research.vumc.nl/en/publications/1b31eb9c-1a72-4592-ad5a-da625eba77e2
https://doi.org/10.1007/s10048-019-00602-4
http://www.scopus.com/inward/record.url?scp=85078583445&partnerID=8YFLogxK