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: Adang, Laura, Gavazzi, Francesco, De Simone, Micaela, Fazzi, Elisa, Galli, Jessica, Koh, Jamie, Kramer-Golinkoff, Julia, De Giorgis, Valentina, Orcesi, Simona, Peer, Kyle, Ulrick, Nicole, Woidill, Sarah, Shults, Justine, Vanderver, Adeline

المساهمون: National Center for Advancing Translational Sciences of the National Institutes of Health

المصدر: Journal of Child Neurology ; volume 35, issue 1, page 7-16 ; ISSN 0883-0738 1708-8283

الإتاحة: https://doi.org/10.1177/0883073819870944Test

المؤلفون: Adang, Laura, Gavazzi, Francesco, Giorgis, Valentina De, Simone, Micaela De, Fazzi, Elisa, Galli, Jessica, Koh, Jamie, Kramer-Golinkoff, Julia, Orcesi, Simona, Peer, Kyle, Ulrick, Nicole

المصدر: Journal of Clinical and Translational Science ; volume 3, issue s1, page 45-45 ; ISSN 2059-8661

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1017/cts.2019.107Test
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S2059866119001079Test

المؤلفون: Adang, Laura A., Frank, David B., Gilani, Ahmed, Takanohashi, Asako, Ulrick, Nicole, Collins, Abigail, Cross, Zachary, Galambos, Csaba, Helman, Guy, Kanaan, Usama, Keller, Stephanie, Simon, Dawn, Sherbini, Omar, Hanna, Brian D., Vanderver, Adeline L.

المساهمون: National Center for Advancing Translational Sciences of the National Institutes of Health, CURE grant and the Lysosomal Disease Network, Jayden DeLuca Foundation, Delman Fund for Pediatric Neurology Education, Kamens endowed chair

المصدر: Molecular Genetics and Metabolism ; volume 125, issue 4, page 351-358 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2018.09.004Test
https://api.elsevier.com/content/article/PII:S1096719218304025?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719218304025?httpAccept=text/plainTest

المؤلفون: Ng, Yi Shiau, Alston, Charlotte L., Diodato, Daria, Morris, Andrew A., Ulrick, Nicole, Kmoch, Stanislav, Houstek, Josef, Martinelli, Diego, Haghighi, Alireza, Atiq, Mehnaz, Gamero, Montserrat Anton, Garcia-Martinez, Elena, Kratochvilova, Hana, Santra, Saikat, Brown, Ruth M., Brown, Garry K., Ragge, Nicola, Monavari, Ahmad, Pysden, Karen, Ravn, Kirstine, Casey, Jillian P., Khan, Arif, Chakrapani, Anupam, Vassallo, Grace, Simons, Cas, McKeever, Karl, O'Sullivan, Siobhan, Childs, Anne-Marie, Ostergaard, Elsebet, Vanderver, Adeline, Goldstein, Amy, Vogt, Julie, Taylor, Robert W., McFarland, Robert

المساهمون: Ng, Yi Shiau Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England, Alston, Charlotte L. Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England, Taylor, Robert W. Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England, McFarland, Robert Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England, Diodato, Daria Children Res Hosp Bambino Gesu, Neuromuscular & Neurodegenerat Dis Unit, Rome, Italy, Morris, Andrew A. Cent Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Dept Med Genet, Manchester, Lancs, England, Ulrick, Nicole George Washington Univ, Sch Med, Childrens Natl Hlth Syst, Dept Neurol, Washington, DC USA, Vanderver, Adeline George Washington Univ, Sch Med, Childrens Natl Hlth Syst, Dept Neurol, Washington, DC USA, Kmoch, Stanislav Charles Univ Prague, Inst Inherited Metab Disorders, Fac Med 1, Prague, Czech Republic, Houstek, Josef Acad Sci Czech Republic, Inst Physiol, Prague, Czech Republic, Martinelli, Diego Children Res Hosp Bambino Gesu, Div Metab, Rome, Italy, Haghighi, Alireza Harvard Med Sch, Dept Genet, Boston, MA USA, Haghighi, Alireza Brigham & Womens Hosp, Dept Med, 75 Francis St, Boston, MA 02115 USA, Haghighi, Alireza Brigham & Womens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA, Atiq, Mehnaz Aga Khan Univ, Dept Pediat, Karachi, Pakistan, Gamero, Montserrat Anton Hosp Univ Reina Sofia, Pediat Nephrol Unit, Cordoba, Spain, Garcia-Martinez, Elena Hosp Univ Reina Sofia, Pediat Nephrol Unit, Cordoba, Spain, Kratochvilova, Hana Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Prague, Czech Republic, Kratochvilova, Hana Gen Univ Hosp Prague, Prague, Czech Republic, Santra, Saikat Birmingham Childrens Hosp NHS Fdn Trust, Dept Clin Inherited Metab Disorders, Birmingham, W Midlands, England, Brown, Ruth M. Oxford Univ Hosp NHS Fdn Trust, Churchill Hosp, Oxford Med Genet Labs, Oxford, England, Brown, Garry K. Oxford Univ Hosp NHS Fdn Trust, Churchill Hosp, Oxford Med Genet Labs, Oxford, England, Ragge, Nicola Birmingham Womens NHS Fdn Trust, West Midlands Reg Genet Serv, Clin Genet Unit, Birmingham, W Midlands, England, Monavari, Ahmad Temple St Childrens Univ Hosp, Natl Ctr Inherited Metab Disorders, Dublin, Ireland, Pysden, Karen Leeds Gen Infirm, Dept Paediat Med, Leeds, W Yorkshire, England, Childs, Anne-Marie Leeds Gen Infirm, Dept Paediat Med, Leeds, W Yorkshire, England, Ravn, Kirstine Rigshosp, Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark, Ostergaard, Elsebet Rigshosp, Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark, Casey, Jillian P. Temple St Childrens Univ Hosp, Dept Clin Genet, Dublin, Ireland, Khan, Arif Leicester Royal Infirm, Leicester Childrens Hosp, Leicester, Leics, England, Chakrapani, Anupam Great Ormond St Hosp NHS Fdn Trust, Dept Metab Med, London, England, Vassallo, Grace Cent Manchester Univ Hosp NHS Fdn Trust, Dept Paediat Neurol, Manchester, Lancs, England, Simons, Cas Univ Queensland, Inst Mol Biosci, St Lucia, Qld, Australia, McKeever, Karl Royal Belfast Hosp Sick Children, Dept Paediat Med, Belfast, Antrim, North Ireland, O'Sullivan, Siobhan Royal Belfast Hosp Sick Children, Dept Paediat Med, Belfast, Antrim, North Ireland, Goldstein, Amy Childrens Hosp Pittsburgh, Div Child Neurol, Pittsburgh, PA USA, Vogt, Julie Univ Birmingham, Sch Clin & Expt Med, Ctr Rare Dis & Personalised Med, Dept Med & Mol Genet, Birmingham, W Midlands, England, Ragge, Nicola Oxford Brookes Univ, Fac Hlth & Life Sci, Oxford, England, Wellcome Trust, Medical Research Council, UK NHS Specialised Services and Newcastle upon Tyne Hospitals NHS Foundation Trust, National Institute for Health Research (NIHR), Charles University, BIOCEV -Biotechnology and Biomedicine Centre of the Academy of Sciences, European Regional Development Fund, Grant Agency of the Czech Republic, Ministry of Education of the Czech Republic, Ministry of Education, Ministry of Health of the Czech Republic, MRC, National Institute for Health Research, NIHR Newcastle Biomedical Research Centre

مصطلحات موضوعية: Complex deficiencies, Rmnd1 mutation, Renal-failure, Encephaloneuromyopathy, Translation, Defect

العلاقة: http://hdl.handle.net/10668/19038Test; https://jmg.bmj.com/content/jmedgenet/53/11/768.full.pdfTest; 387977600008

الإتاحة: https://doi.org/10.1136/jmedgenet-2016-103910Test
http://hdl.handle.net/10668/19038Test
https://jmg.bmj.com/content/jmedgenet/53/11/768.full.pdfTest

المؤلفون: Rice, Gillian I., Kitabayashi, Naoki, Barth, Magalie, Briggs, Tracy A., Burton, Annabel C. E., Carpanelli, Maria Luisa, Cerisola, Alfredo M., Colson, Cindy, Dale, Russell C., Danti, Federica Rachele, Darin, Niklas, de Azua, Begoña, de Giorgis, Valentina, de Goede, Christian G. L., Desguerre, Isabelle, de Laet, Corinne, Eslahi, Atieh, Fahey, Michael C., Fallon, Penny, Fay, Alex, Fazzi, Elisa, Gorman, Mark P., Gowrinathan, Nirmala Rani, Hully, Marie, Kurian, Manju A., Leboucq, Nicolas, Lin, Jean-Pierre S.-M., Lines, Matthew A., Mar, Soe S., Maroofian, Reza, Martí-Sanchez, Laura, Mccullagh, Gary, Mojarrad, Majid, Narayanan, Vinodh, Orcesi, Simona, Ortigoza-Escobar, Juan Dario, Pérez-Dueñas, Belén, Petit, Florence, Ramsey, Keri M., Rasmussen, Magnhild, Rivier, Francois, Rodriguez-Pombo, Pilar, Roubertie, Agathe, Stödberg, Tommy I., Toosi, Mehran Beiraghi, Toutain, Annick, Uettwiller, Florence, Ulrick, Nicole, Vanderver, Adeline, Waldman, Amy, Livingston, John H., Crow, Yanick J.

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurologie pédiatrique CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département de Neuroradiologie Montpellier, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service de génétique Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau

المصدر: ISSN: 0174-304X.

مصطلحات موضوعية: Aicardi–Goutières syndrome, bilateral striatal necrosis, spastic paraparesis, dystonia, idiopathic basal ganglia calcification, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28561207; hal-01761366; https://hal.science/hal-01761366Test; https://hal.science/hal-01761366/documentTest; https://hal.science/hal-01761366/file/2017%20Rice%20et%20al.,%20Genetic,%20Phenotypic.pdfTest; PUBMED: 28561207

الإتاحة: https://doi.org/10.1055/s-0037-1601449Test
https://hal.science/hal-01761366Test
https://hal.science/hal-01761366/documentTest
https://hal.science/hal-01761366/file/2017%20Rice%20et%20al.,%20Genetic,%20Phenotypic.pdfTest

المؤلفون: Miyake, Noriko, Wolf, Nicole I., Cayami, Ferdy K., Crawford, Joanna, Bley, Annette, Bulas, Dorothy, Conant, Alex, Bent, Stephen J., Gripp, Karen W., Hahn, Andreas, Humphray, Sean, Kimura-Ohba, Shihoko, Kingsbury, Zoya, Lajoie, Bryan R., Lal, Dennis, Micha, Dimitra, Pizzino, Amy, Sinke, Richard J., Sival, Deborah, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Ulrick, Nicole, Taft, Ryan J., Ogata, Tsutomu, Ozono, Keiichi, Matsumoto, Naomichi, Neubauer, Bernd A., Simons, Cas, Vanderver, Adeline

المصدر: Miyake , N , Wolf , N I , Cayami , F K , Crawford , J , Bley , A , Bulas , D , Conant , A , Bent , S J , Gripp , K W , Hahn , A , Humphray , S , Kimura-Ohba , S , Kingsbury , Z , Lajoie , B R , Lal , D , Micha , D , Pizzino , A , Sinke , R J , Sival , D , Stolte-Dijkstra , I , Superti-Furga , A , Ulrick , N , Taft , R J , ....

مصطلحات موضوعية: Hypomyelination, Spondylometaphyseal dysplasia, Whole exome sequencing (WES), AIFM1 gene, Mitochondrial leukodystrophy, Myelin, APOPTOSIS-INDUCING FACTOR, MENTAL-RETARDATION, NEUROPATHY, LEUKODYSTROPHIES, CHONDRODYSPLASIA, MINERALIZATION, DISORDERS, PHENOTYPE, VARIANTS, SPECTRUM

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/efc12237-57f5-4508-93d4-52edfd7619c5Test

الإتاحة: https://doi.org/10.1007/s10048-017-0520-xTest
https://hdl.handle.net/11370/efc12237-57f5-4508-93d4-52edfd7619c5Test
https://research.rug.nl/en/publications/efc12237-57f5-4508-93d4-52edfd7619c5Test
https://pure.rug.nl/ws/files/51310246/00395230.pdfTest

المؤلفون: Gavazzi, Francesco, Cross, Zachary M., Woidill, Sarah, McMann, Joseph M., Rand, Elizabeth B., Takanohashi, Asako, Ulrick, Nicole, Shults, Justine, Vanderver, Adeline L., Adang, Laura

المصدر: Neuropediatrics ; volume 52, issue 06, page 441-447 ; ISSN 0174-304X 1439-1899

الإتاحة: https://doi.org/10.1055/s-0040-1722673Test

المؤلفون: Ulrick, Nicole

المصدر: PCOM Physician Assistant Studies Student Scholarship

مصطلحات موضوعية: MDMA, PTSD, Medicine and Health Sciences, psy, envir

العلاقة: https://digitalcommons.pcom.edu/context/pa_systematic_reviews/article/1516/viewcontent/Does_MDMA_assisted_psychotherapy_result_in_symptom_improvement_in_adults_w_posttraumatic_stress_disorder__PTSD____Ulrick__N.pdfTest; https://digitalcommons.pcom.edu/pa_systematic_reviews/551Test

الإتاحة: https://digitalcommons.pcom.edu/context/pa_systematic_reviews/article/1516/viewcontent/Does_MDMA_assisted_psychotherapy_result_in_symptom_improvement_in_adults_w_posttraumatic_stress_disorder__PTSD____Ulrick__N.pdfTest
https://digitalcommons.pcom.edu/pa_systematic_reviews/551Test