المؤلفون: Bolton, Shaun C., Soran, Vina, Marfa, Mercedes Pineda, Imrie, Jackie, Gissen, Paul, Jahnova, Helena, Sharma, Reena, Jones, Simon, Santra, Saikat, Crushell, Ellen, Stampfer, Miriam, Coll, Maria Jose, Dawson, Charlotte, Mathieson, Toni, Green, James, Dardis, Andrea, Bembi, Bruno, Patterson, Marc C., Vanier, Marie T., Geberhiwot, Tarekegn

المساهمون: Consumers, Health and Food Executive Agency

المصدر: Orphanet Journal of Rare Diseases ; volume 17, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-022-02200-4Test

المؤلفون: Neuray C, Maroofian R, Scala M, Sultan T, Pai GS, Mojarrad M, Khashab HE, deHoll L, Yue W, Alsaif HS, Zanetti MN, Bello O, Person R, Eslahi A, Khazaei Z, Feizabadi MH, Efthymiou S, SYNaPS Study Group, El-Bassyouni HT, Soliman DR, Tekes S, Ozer L, Baltaci V, Khan S, Beetz C, Amr KS, Salpietro V, Jamshidi Y, Alkuraya FS, Houlden H. Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Di Rosa G, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D Ferrari, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves A Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa

المساهمون: Neuray, C, Maroofian, R, Scala, M, Sultan, T, Pai, G, Mojarrad, M, Khashab, He, Deholl, L, Yue, W, Alsaif, H, Zanetti, Mn, Bello, O, Person, R, Eslahi, A, Khazaei, Z, Feizabadi, Mh, Efthymiou, S, SYNaPS Study, Group, El-Bassyouni, Ht, Soliman, Dr, Tekes, S, Ozer, L, Baltaci, V, Khan, S, Beetz, C, Amr, K, Salpietro, V, Jamshidi, Y, Alkuraya, F, Houlden H., Stanislav Groppa, Blagovesta Marinova, Karashova, Wolfgang, Nachbauer, Sylvia, Boesch, Larissa, Arning, Dagmar, Timmann, Bru, Cormand, Belen, Pérez-Dueña, Di Rosa, G, Jatinder, S Goraya, Tipu, Sultan, Jun, Mine, Daniela, Avdjieva, Hadil, Kathom, Radka, Tincheva, Selina, Banu, Mercedes, Pineda-Marfa, Pierangelo, Veggiotti, Michel, D Ferrari, Alberto, Verrotti, Giangluigi, Marseglia, Salvatore, Savasta, Mayte, García-Silva, Alfons Macaya, Ruiz, Barbara, Garavaglia, Eugenia, Borgione, Simona, Portaro, Benigno Monteagudo, Sanchez, Richard, Bole, Savvas, Papacosta, Michail, Vikeli, Eleni Zamba, Papanicolaou, Efthymios, Dardioti, Shazia, Maqbool, Shahnaz, Ibrahim, Salman, Kirmani, Nuzhat Noureen, Rana, Osama, Atawneh, George, Koutsi, Marianthi, Breza, Salvatore, Mangano, Carmela, Scuderi, Giovanna, Morello, Tanya, Stojkovic, Massimi, Zollo, Gali, Heimer, Yves, A Dauvillier, Pasquale, Striano, Issam, Al-Khawaja, Fuad, Al-Mutairi, Hamed, Sherifa

مصطلحات موضوعية: GAD1, cleft palate, epilepsy, muscle weakness, neurodevelopmental delay

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32705143; info:eu-repo/semantics/altIdentifier/wos/WOS:000825023900016; volume:143; issue:8; firstpage:2388; lastpage:2397; numberofpages:10; journal:BRAIN; https://hdl.handle.net/11570/3185113Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097368013; https://academic.oup.com/brain/article/143/8/2388/5875729?login=trueTest

الإتاحة: https://doi.org/10.1093/brain/awaa178Test
https://hdl.handle.net/11570/3185113Test
https://academic.oup.com/brain/article/143/8/2388/5875729?login=trueTest

المؤلفون: De Nittis P., Efthymiou S., Sarre A., Guex N., Chrast J., Putoux A., Sultan T., Raza Alvi J., Ur Rahman Z., Zafar F., Rana N., Rahman F., Anwar N., Maqbool S., Zaki M. S., Gleeson J. G., Murphy D., Galehdari H., Shariati G., Mazaheri N., Sedaghat A., Lesca G., Chatron N., Salpietro V., Christoforou M., Houlden H., Simonds W. F., Pedrazzini T., Maroofian R., Reymond A., SYNAPS STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa.

المساهمون: P., De Nitti, S., Efthymiou, A., Sarre, N., Guex, J., Chrast, A., Putoux, T., Sultan, J., Raza Alvi, Z., Ur Rahman, F., Zafar, N., Rana, F., Rahman, N., Anwar, S., Maqbool, M. S., Zaki, J. G., Gleeson, D., Murphy, H., Galehdari, G., Shariati, N., Mazaheri, A., Sedaghat, G., Lesca, N., Chatron, V., Salpietro, M., Christoforou, H., Houlden, W. F., Simond, T., Pedrazzini, R., Maroofian, A., Reymond, STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Synap, Marinova Karashova, Blagovesta, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, S Goraya, Jatinder, Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercede, Veggiotti, Pierangelo, Ferrari, Michel D., van den Maagdenberg, Arn M. J. M., Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Macaya Ruiz, Alfon, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Monteagudo Sanchez, Benigno, Boles, Richard, Papacostas, Savva, Vikelis, Michail, Zamba Papanicolaou, Eleni, Dardiotis, Efthymio, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Noureen Rana, Nuzhat, Atawneh, Osama, Koutsis, George, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, Massimo, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa., Hamed

مصطلحات موضوعية: cardiac conduction anomalie, Gnb5 -null mouse model, GNB5 variant, IDDCA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000729894000004; volume:58; issue:12; firstpage:815; lastpage:831; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11588/829429Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097244700

الإتاحة: https://doi.org/10.1136/jmedgenet-2020-107015Test
http://hdl.handle.net/11588/829429Test

المؤلفون: Abdul-Basit, Hasan, Adan-Omar, Munira, Ahmed, Halla, Amos-Phillips, Daniel, Asare, Zayn-Carl, Attom, Darren, Dioulo, Ayub, Pierre, Grace-Darielle Dixon, Dycha, Krzysztof, Filipov, Anton, Fernandez, Santiago Galmades, Gohar, Muhammad Moeiz, Hall, Aimee-Pearl, Hassan, Hussein, Hazelden, Reanna, Macrohon, Jasmine, Malik, Eesa, Mohamud, Yusra M, Mubin, Suhana, Nazir, Hanan, Owusu-Yaw, Angel, Ozeh, Ngozi, Ledesma, Mercedes Pineda, Rojas, Hector Santos, Stoychev, Petar, Thompson, Jaimee-Lea, Wilson-Marshalleck, Kasharn, Wu, Jueqi, Younus, Duaa

المصدر: Future Science OA ; volume 4, issue 5s, page 3-9 ; ISSN 2056-5623

الإتاحة: https://doi.org/10.4155/fsoa-2018-s005Test

المؤلفون: Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T, Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, Stampfer, Miriam, Imrie, Jackie, Hendriksz, Christian, Gissen, Paul, Crushell, Ellen, Coll, Maria J, Nadjar, Yann, Klünemann, Hans, Mengel, Eugen, Hrebicek, Martin, Jones, Simon A, Ory, Daniel, Bembi, Bruno, Patterson, Marc

مصطلحات موضوعية: WK Endocrine system. Endocrinology

وصف الملف: text

العلاقة: http://www.repository.uhblibrary.co.uk/id/eprint/1979/1/Consensus%20clinical%20management%20guidelines%20for%20Niemann-Pick%20disease%20type%20C.pdfTest; Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T, Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, Stampfer, Miriam, Imrie, Jackie, Hendriksz, Christian, Gissen, Paul, Crushell, Ellen, Coll, Maria J, Nadjar, Yann, Klünemann, Hans, Mengel, Eugen, Hrebicek, Martin, Jones, Simon A, Ory, Daniel, Bembi, Bruno and Patterson, Marc (2018) Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet journal of rare diseases, 13 (1). p. 50. ISSN 1750-1172. This article is available to all UHB staff and students login using a UHB Athens Account. Register for Athens here - https://openathens.nice.org.ukTest/

الإتاحة: https://doi.org/10.1186/s13023-018-0785-7Test
http://www.repository.uhblibrary.co.uk/id/eprint/1979Test/
http://www.repository.uhblibrary.co.uk/id/eprint/1979/1/Consensus%20clinical%20management%20guidelines%20for%20Niemann-Pick%20disease%20type%20C.pdfTest

المؤلفون: De Nittis P., Efthymiou S., Sarre A., Guex N., Chrast J., Putoux A., Sultan T., Raza Alvi J., Ur Rahman Z., Zafar F., Rana N., Rahman F., Anwar N., Maqbool S., Zaki M. S., Gleeson J. G., Murphy D., Galehdari H., Shariati G., Mazaheri N., Sedaghat A., Lesca G., Chatron N., Salpietro V., Christoforou M., Houlden H., Simonds W. F., Pedrazzini T., Maroofian R., Reymond A., SYNAPS STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa.

المساهمون: University of Lausanne (UNIL), University College of London [London] (UCL), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Children's Hospital [Lahore], Institute of Child Health [Lahore], Children's Hospital [Multan], Institute of Child Health [Multan], National Research Centre - NRC (EGYPT), Howard Hughes Medical Institute (HHMI), Shahid Chamran University of Ahvaz (SCU), Ahvaz Jundishapur University of Medical Sciences (AJUMS), National Institutes of Health [Bethesda] (NIH), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lausanne = University of Lausanne (UNIL), Herrada, Anthony, P., De Nitti, S., Efthymiou, A., Sarre, N., Guex, J., Chrast, A., Putoux, T., Sultan, J., Raza Alvi, Z., Ur Rahman, F., Zafar, N., Rana, F., Rahman, N., Anwar, S., Maqbool, M. S., Zaki, J. G., Gleeson, D., Murphy, H., Galehdari, G., Shariati, N., Mazaheri, A., Sedaghat, G., Lesca, N., Chatron, V., Salpietro, M., Christoforou, H., Houlden, W. F., Simond, T., Pedrazzini, R., Maroofian, A., Reymond, STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Synap, Marinova Karashova, Blagovesta, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, S Goraya, Jatinder, Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercede, Veggiotti, Pierangelo, Ferrari, Michel D., van den Maagdenberg, Arn M. J. M., Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Macaya Ruiz, Alfon, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Monteagudo Sanchez, Benigno, Boles, Richard, Papacostas, Savva, Vikelis, Michail, Zamba Papanicolaou, Eleni, Dardiotis, Efthymio, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Noureen Rana, Nuzhat, Atawneh, Osama, Koutsis, George, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, Massimo, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa., Hamed

المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2020-107015⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Batecs cardíacs, 0302 clinical medicine, Neurodevelopmental disorder, Heart Rate, Medicine, Child, Genetics (clinical), Mice, Knockout, Gnb5-null mouse models, GTP-Binding Protein beta Subunits, Cardiac muscle, Heart, Syndrome, IDDCA, Functional Genomics, Pedigree, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, cardiac conduction anomalies, Gnb5 -null mouse models, GNB5 variants, medicine.anatomical_structure, Child, Preschool, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Female, medicine.symptom, Signal Transduction, Bradycardia, Cardiac function curve, Gnb5 -null mouse model, medicine.medical_specialty, Adolescent, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Contractility, Young Adult, Brain damage, 03 medical and health sciences, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, GNB5variants, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Internal medicine, Exome Sequencing, Heart rate, Genetics, Animals, Humans, business.industry, Gene Expression Profiling, Heart beat, Proteins, Cardiac arrhythmia, Arrhythmias, Cardiac, GNB5 variant, medicine.disease, Mice, Inbred C57BL, Autonomic nervous system, 030104 developmental biology, Endocrinology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Lesions cerebrals, cardiac conduction anomalie, business, Proteïnes, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c9ebc9c3b81e32161c102409b0091dfTest
https://doi.org/10.1136/jmedgenet-2020-107015Test

المؤلفون: Eugen Mengel, Daniel W. Rosenberg, Patrick Moneuse, Mercedes Pineda, Marie T. Vanier, Marc C. Patterson

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, 1-Deoxynojirimycin, Ataxia, Adolescent, Population, Natural history, Neurological symptoms, lcsh:Medicine, Swallowing, Miglustat, medicine, Humans, Pharmacology (medical), Treatment evaluation, Prospective Studies, Registries, Disease course, Enzyme Inhibitors, education, Genetics (clinical), Dystonia, education.field_of_study, business.industry, Research, Niemann-Pick disease type C, NPC disease registry, lcsh:R, Niemann-Pick Disease, Type C, General Medicine, Tolerability, medicine.disease, Dysphagia, Treatment Outcome, Female, medicine.symptom, Safety, business, medicine.drug, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e8e9f2bb685da4d944cec6b75beefedTest
http://link.springer.com/article/10.1186/s13023-020-01363-2Test

المؤلفون: Paul Gissen, Saikat Santra, Jim Green, Maria Jose Coll, Andrea Dardis, Charlotte Dawson, Reena Sharma, Toni Mathieson, Shaun Bolton, Helena Jahnová, Jackie Imrie, Marc C. Patterson, Marie Therese Vanier, Tarekegn Geberhiwot, Vina Soran, Bruno Bembi, Ellen Crushell, Simon Jones, Mercedes Pineda Marfa, Miriam Stampfer

مصطلحات موضوعية: medicine.medical_specialty, Niemann–Pick disease, type C, business.industry, Medicine, business, Clinical disease, medicine.disease, Niemann–Pick disease, Dermatology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dd3b2e32b09f1edd24eacb9eb605e5f2Test
https://doi.org/10.21203/rs.3.rs-934191/v1Test

المؤلفون: Shaun C. Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Helena Jahnova, Reena Sharma, Simon Jones, Saikat Santra, Ellen Crushell, Miriam Stampfer, Maria Jose Coll, Charlotte Dawson, Toni Mathieson, James Green, Andrea Dardis, Bruno Bembi, Marc C. Patterson, Marie T. Vanier, Tarekegn Geberhiwot

المصدر: Orphanet journal of rare diseases. 17(1)

مصطلحات موضوعية: Adult, Infant, Newborn, Humans, Pharmacology (medical), Niemann-Pick Disease, Type C, General Medicine, Prospective Studies, Registries, Enzyme Inhibitors, Child, Genetics (clinical), Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee6c602ac958b735f1d172ae2b088f2fTest
https://pubmed.ncbi.nlm.nih.gov/35164809Test

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

المساهمون: Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Canadian Institutes of Health Research, Fonds de recherche du Québec, Fonds de Recherche du Québec - Santé, Neurology, Functional Genomics, 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., Sebire, G., Lourenco, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Stromme, P., de Grauw, T., Gieruszczak-Bialek, D., Krageloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., Mcclintock, W., Mcentagart, M., Mckenzie, F., Melancon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Ozkinay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. -F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sonderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., van de Warrenburg, B. P., Vazquez-Lopez, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., van der Knaap, M. S., Vanderver, A., Martos-Moreno, G. A., Polychronakos, C., Wolf, N. I., Bernard, G., Human genetics, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Cellular & Molecular Mechanisms

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 L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M S, Vanderver, A, Martos-Moreno, G, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700Test
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, Sebire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M, Vanderver, A, Martos-Moreno, G Á, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700Test
Journal of Clinical Endocrinology and Metabolism, 106, 2, pp. e660-e674
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2021, 106 (2), pp.E660-E674. ⟨10.1210/clinem/dgaa700⟩
Journal of Clinical Endocrinology and Metabolism, 106(2), E660-E674. Endocrine Society
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. Oxford University Press
The Journal of Clinical Endocrinology and Metabolism
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Clinical Endocrinology and Metabolism, 106, e660-e674
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. The Endocrine Society
The journal of clinical endocrinology & metabolism 106(2), e660-e674 (2021). doi:10.1210/clinem/dgaa700

مصطلحات موضوعية: Male, Recessive Mutations, Mitochondrial Diseases, genetics [Mitochondrial Diseases], hypomyelination, etiology [Endocrine System Diseases], Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Medizin, POLR3A protein, human, genetics [Endocrine System Diseases], Biochemistry, Cohort Studies, 0302 clinical medicine, Endocrinology, etiology [Growth Disorders], Diagnosis, epidemiology [Growth Disorders], 4H leukodystrophy, Online Only articles, Child, Prospective cohort study, Growth Disorders, genetics [Growth Disorders], POLR3-related leukodystrophy, 0303 health sciences, DNA-Directed RNA Polymerases, Pattern-Recognition, Diffuse Hypomyelination, Classification, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 3. Good health, epidemiology [Hereditary Central Nervous System Demyelinating Diseases], Hormone Deficiency, POLR1C protein, human, Child, Preschool, Female, medicine.symptom, AcademicSubjects/MED00250, Adult, Delayed puberty, Subunit, medicine.medical_specialty, Adolescent, Context (language use), Endocrine System Diseases, Short stature, genetics [Hereditary Central Nervous System Demyelinating Diseases], Genetic Heterogeneity, Young Adult, 03 medical and health sciences, SDG 3 - Good Health and Well-being, hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism, etiology [Hypogonadism], Internal medicine, medicine, genetics [RNA Polymerase III], Humans, Endocrine system, ddc:610, POLR3B protein, human, genetics [DNA-Directed RNA Polymerases], Clinical Research Articles, Retrospective Studies, 030304 developmental biology, complications [Hereditary Central Nervous System Demyelinating Diseases], business.industry, Hypogonadism, Biochemistry (medical), Leukodystrophy, Infant, Newborn, Infant, RNA Polymerase III, medicine.disease, complications [Mitochondrial Diseases], epidemiology [Mitochondrial Diseases], epidemiology [Endocrine System Diseases], Hereditary Central Nervous System Demyelinating Diseases, Cross-Sectional Studies, Biological Variation, Population, Mutation, epidemiology [Hypogonadism], business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Hormone

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1343e0c39bf5133e3bb46b5d53289c04Test
https://hdl.handle.net/1871.1/41a14d43-770b-4a89-bd8f-5704f4571b69Test