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 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, Polychronakos, Constantin, Wolf, Nicole I., Bernard, Geneviève

المصدر: Pelletier , F , Perrier , S , Cayami , F K , Mirchi , A , Saikali , S , Tran , L T , Ulrick , N , Guerrero , K , Rampakakis , E , van Spaendonk , R M L , Naidu , S , Pohl , D , Gibson , W T , Demos , M , Goizet , C , Tejera-Martin , I , Potic , A , Fogel , B L , Brais , B , Sylvain , M , Sébire , G , Lourenço , C M , Bonkowsky , J ....

العلاقة: https://research.vumc.nl/en/publications/4ed1cf4c-2852-4385-8e8b-e7bc6af4a12aTest

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
https://research.vumc.nl/en/publications/4ed1cf4c-2852-4385-8e8b-e7bc6af4a12aTest
http://www.scopus.com/inward/record.url?scp=85097520880&partnerID=8YFLogxKTest

المؤلفون: Perrier, Stefanie, Pelletier, Felixe, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole

مصطلحات موضوعية: 4H leukodystrophy, Recessive Mutations, Hormone Deficiency, Subunit, Classification, Diagnosis, POLR3-related leukodystrophy, hypomyelination, hypogonadotropic hypogonadism, Diffuse Hypomyelination, Pattern-Recognition

العلاقة: Journal Of Clinical Endocrinology & Metabolism; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/77857Test; https://doi.org/10.1210/clinem/dgaa700Test; Suri, Mohnish/0000-0001-9037-701X; GOIZET, Cyril/0000-0002-1913-889X; van der Knaap, Marjo/0000-0001-8912-0954; Martos-Moreno, Gabriel Angel/0000-0001-5524-2646; Tonduti, Davide/0000-0001-9371-7454; Vervenne, Resie/0000-0002-6077-8725; Cayami, Ferdy/0000-0001-7284-7487; 106; E660; E674

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
https://hdl.handle.net/11454/77857Test

المؤلفون: Zakaria, Rohaya Binti Mohamad, Malta, Maisa, Pelletier, Felixe, Addour-Boudrahem, Nassima, Pinchefsky, Elana, Martin, Christine Saint, Srour, Myriam

المصدر: The Cerebellum ; ISSN 1473-4230

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.1007/s12311-023-01544-2Test

المؤلفون: Mirchi, Amytice, Pelletier, Félixe, Tran, Luan T, Keller, Stephanie, Braverman, Nancy, Tonduti, Davide, Vanderver, Adeline, Pizzino, Amy, Dilenge, Marie-Emmanuelle, Poulin, Chantal, Shevell, Michael, Majnemer, Annette, Sébire, Guillaume, Srour, Myriam, Osterman, Bradley, Boucher, Renée-Myriam, Vanasse, Michel, Rossignol, Elsa, Mitchell, John, Venkateswaran, Sunita, Pohl, Daniela, Kauffman, Marcelo, Schiffmann, Raphael, Goizet, Cyril, Moutton, Sebastien, Roncarolo, Federico, Bernard, Geneviève

المساهمون: A. Mirchi, F. Pelletier, L.T. Tran, S. Keller, N. Braverman, D. Tonduti, A. Vanderver, A. Pizzino, M. Dilenge, C. Poulin, M. Shevell, A. Majnemer, G. Sébire, M. Srour, B. Osterman, R. Boucher, M. Vanasse, E. Rossignol, J. Mitchell, S. Venkateswaran, D. Pohl, M. Kauffman, R. Schiffmann, C. Goizet, S. Moutton, F. Roncarolo, G. Bernard

مصطلحات موضوعية: Genetic leukoencephalopathie, Genetically determined leukoencephalopathie, Health-related quality of life, Leukodystrophie, Pediatric Quality of Life Inventory, Adolescent, Adult, Child, Preschool, Female, Human, Infant, Male, Severity of Illness Index, Young Adult, Leukoencephalopathie, Quality of Life, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29859719; info:eu-repo/semantics/altIdentifier/wos/WOS:000438328100005; volume:84; firstpage:21; lastpage:26; numberofpages:6; journal:PEDIATRIC NEUROLOGY; https://hdl.handle.net/2434/938859Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85047615685

الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2018.03.015Test
https://hdl.handle.net/2434/938859Test

المؤلفون: Pelletier, Félixe, Meijer, Inge

المصدر: Neurology ; volume 96, issue 15_supplement ; ISSN 0028-3878 1526-632X

الإتاحة: https://doi.org/10.1212/wnl.96.15_supplement.4998Test

المؤلفون: Yea, Carmen, Bitnun, Ari, Branson, Helen M, Ciftci-Kavaklioglu, Beyza, Rafay, Mubeen F, Fortin, Olivier, Moresoli, Paola, Sébire, Guillaume, Srour, Myriam, Decaluwe, Hélène, Marois, Louis, Pelletier, Félixe, Barton, Michelle, Nouri, Maryam Nabavi, Brophy, Jason, Venkateswaran, Sunita, Pohl, Daniela, Selby, Kathryn, Jones, Kevin, Robinson, Joan, Mineyko, Aleksandra, Licht, Christoph, Ertl-Wagner, Birgit, Yeh, E Ann

المصدر: The Lancet Child & Adolescent Health ; volume 4, issue 11, page 828-836 ; ISSN 2352-4642

مصطلحات موضوعية: Developmental and Educational Psychology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s2352-4642Test(20)30176-0
https://api.elsevier.com/content/article/PII:S2352464220301760?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2352464220301760?httpAccept=text/plainTest

المؤلفون: Yea, Carmen, Bitnun, Ari, Branson, Helen M., Ciftci-Kavaklioglu, Beyza, Rafay, Mubeen F., Fortin, Olivier, Moresoli, Paola, Sébire, Guillaume, Srour, Myriam, Decaluwe, Hélène, Marois, Louis, Pelletier, Félixe, Barton, Michelle, Nouri, Maryam Nabavi, Brophy, Jason, Venkateswaran, Sunita, Pohl, Daniela, Selby, Kathryn, Jones, Kevin, Robinson, Joan, Mineyko, Aleksandra, Licht, Christoph, Ertl-Wager, Birgit, Yeh, E. Ann

المصدر: SSRN Electronic Journal ; ISSN 1556-5068

الإتاحة: https://doi.org/10.2139/ssrn.3578795Test

المؤلفون: Mirchi, Amytice, Pelletier, Félixe, Tran, Luan T., Keller, Stephanie, Braverman, Nancy, Tonduti, Davide, Vanderver, Adeline, Pizzino, Amy, Dilenge, Marie Emmanuelle, Poulin, Chantal, Shevell, Michael, Majnemer, Annette, Sébire, Guillaume, Srour, Myriam, Osterman, Bradley, Boucher, Renée Myriam, Vanasse, Michel, Rossignol, Elsa, Mitchell, John, Venkateswaran, Sunita, Pohl, Daniela, Kauffman, Marcelo Andres, Schiffmann, Raphael, Goizet, Cyril, Moutton, Sebastien, Roncarolo, Federico, Bernard, Geneviève

مصطلحات موضوعية: GENETIC LEUKOENCEPHALOPATHIES, GENETICALLY DETERMINED LEUKOENCEPHALOPATHIES, HEALTH-RELATED QUALITY OF LIFE, LEUKODYSTROPHIES, PEDIATRIC QUALITY OF LIFE INVENTORY, https://purl.org/becyt/ford/3.2Test, https://purl.org/becyt/ford/3Test

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S0887899417310159Test; http://hdl.handle.net/11336/201451Test; Mirchi, Amytice; Pelletier, Félixe; Tran, Luan T.; Keller, Stephanie; Braverman, Nancy; et al.; Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy; Elsevier Science Inc.; Pediatric Neurology; 84; 7-2018; 21-26; CONICET Digital; CONICET

الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2018.03.015Test
http://hdl.handle.net/11336/201451Test