부산대학교 도서관

Akalu Y; Center for Genetic Errors of Immunity, Columbia University, New York, NY, USA.; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Taft J; Center for Genetic Errors of Immunity, Columbia University, New York, NY, USA.; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Berger T; Department of Pediatric Gastroenterology and Rheumatology, Children's Hospital Datteln, University Witten and Herdecke, Datteln, Germany.; Rostásy K; Department of Pediatric Neurology, Children's Hospital Datteln, University Witten and Herdecke, Datteln, Germany.; Dafsari HS; Department of Pediatrics, University of Cologne, Köln, Germany.; Max-Planck-Institute for Biology of Ageing, Köln, Germany.; Schönrade H; Department of Pediatrics, University of Cologne, Köln, Germany.; Cüceoğlu MK; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.; Özen S; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.; Faye A; Department of General Pediatrics, Pediatric Infectious Disease and Internal Medicine, Robert Debré University Hospital, Assistance Publique-Hôpitaux de Université Paris Cité Paris, Paris, France.; Melki I; Department of General Pediatrics, Paediatric Rheumatology Unit, Armand Trousseau Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, FHU INFLAMME, Paris, France.; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM U1163, Paris, France.; Dobroz I; Department of Child Neurology, LeukoFrance, Assistance Publique-Hôpitaux de Paris and UMR1141 Université Paris Cité-INSERM, Robert Debré University Hospital, Paris, France.; Boespflug-Tanguy O; Department of Child Neurology, LeukoFrance, Assistance Publique-Hôpitaux de Paris and UMR1141 Université Paris Cité-INSERM, Robert Debré University Hospital, Paris, France.; Kiykim A; Division of Immunology and Allergy, Department of Pediatrics, Istanbul University- Cerrahpasa, Istanbul, Turkey.; Sahin S; Department of Pediatric Rheumatology, Istanbul University-Cerrahpasa, Istanbul, Turkey.; Tahir Turanli E; Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Institute of Natural and Applied Sciences, Acibadem University, Istanbul, Turkey.; Akca ÜK; Department of Pediatric Rheumatology, Akdeniz University, Antalya, Turkey.; van Laar JAM; Departments of Internal Medicine and Immunology, Erasmus University Medical Center, Rotterdam, Netherlands.; van Pelt PA; Department of Rheumatology, Erasmus University Medical Center, Rotterdam, Netherlands.; Hollink IHIM; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands.; Pimpale Chavan P; Department of Pediatric Rheumatology, SRCC Children's Hospital, Mumbai, India.; Khubchandani R; Department of Pediatric Rheumatology, SRCC Children's Hospital, Mumbai, India.; Department of Pediatrics, Jaslok and Breach Candy Hospitals, Mumbai, India.; Aksentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, USA.; Bogunovic D; Center for Genetic Errors of Immunity, Columbia University, New York, NY, USA.; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Department of Pediatrics, Hiroshima University, Hiroshima, Japan.

Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 9919054337406676 Publication Model: eCollection Cited Medium: Internet ISSN: 3065-8993 (Electronic) Linking ISSN: 30658993 NLM ISO Abbreviation: J Hum Immun Subsets: PubMed not MEDLINE

Masnada S; Sarret C; Antonello CE; Fadilah A; Krude H; Mura E; Mordekar S; Nicita F; Olivotto S; Orcesi S; Porta F; Remerand G; Siri B; Wilpert N; Amir-Yazdani P; Bertini E; Schuelke M; Bernard G; Boespflug-Tanguy O; Tonduti D.

Molecular Genetics and Metabolism. 135:109-113

Baquerre, C; Larosa, T; Boespflug-Tanguy, O; Pain, Bertrand

Mercuri E.; Muntoni F.; Baranello G.; Masson R.; Boespflug-Tanguy O.; Bruno C.; Corti S.; Daron A.; Deconinck N.; Servais L.; Straub V.; Ouyang H.; Chand D.; Tauscher-Wisniewski S.; Mendonca N.; Lavrov A.; Seferian A.; De Lucia S.; Tachibana S.; Jollet A.; Mouffak S.; Pedemonte M.; Brolatti N.; Morando S.; Vanlander A.; De Vos E.; Tahon V.; Govoni A.; Magri F.; Comi G.; Foa M.; Parente V.; Buscemi L.; Dal Farra F.; Schneider O.; Jonas A.; Defeldre A. C.; Pagliano E.; Zanin R.; Arnoldi M. T.; Schembri V.; Del Sole M.; Mandelli A.; Pera M. C.; Antonaci L.; Coratti G.; de Sanctis R.; Pane M.; Scoto M.; Groves K.; Edel L.; Abel F.; Van Ruiten H.; Lofra R. M.; Thompson E.

The Lancet Neurology. 20:832-841

Mutaz Amin; Cedric Vignal; Esraa Eltaraifee; Inaam N. Mohammed; Ahlam A. A. Hamed; Maha A. Elseed; Arwa Babai; Iman Elbadi; Doua Mustafa; Rayan Abubaker; Mohamed Mustafa; Severine Drunat; Liena E. O. Elsayed; Ammar E. Ahmed; Odile Boespflug-Tanguy; Imen Dorboz

BMC Medical Genomics, Vol 15, Iss 1, Pp 1-5 (2022)

Bertola N; Developmental Brain Disorders Laboratory, Institut Imagine, Université Paris Cité, INSERM, UMR 1163, 75015 Paris, France.; Blondiaux E; Department of Pediatric Radiology, Hôpital Armand-Trousseau, GRC IMAGES, APHP, Sorbonne Université, 75012 Paris, France.; Harion M; Service de Neuropédiatrie, CRMR des malformations et maladies congénitales du cervelet, APHP, Sorbonne Université, Hôpital Armand-Trousseau, 75012 Paris, France; Faculté de Médecine, Sorbonne Université, 75013 Paris, France.; Dorboz I; Service de Neurologie Pédiatrique, DMU INOV-RDB, APHP, Hôpital Robert Debré, 75019 Paris, France.; Passemard S; Service de Neurologie Pédiatrique, DMU INOV-RDB, APHP, Hôpital Robert Debré, 75019 Paris, France; Université Paris Cité, UMR 1141, INSERM, Hôpital Robert Debré, 75019 Paris, France.; Mercier S; Nantes Université, CHU de Nantes, Service de Génétique médicale, 44000 Nantes, France.; Conrad S; Nantes Université, CHU de Nantes, Service de Génétique médicale, 44000 Nantes, France.; Cogné B; Nantes Université, CHU de Nantes, Service de Génétique médicale, 44000 Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'Institut du thorax, 44000 Nantes, France.; Boyer J; Service d'ORL et chirurgie cervico-faciale, ORL pédiatrique, Centre Hospitalier Universitaire de Nantes, 44000 Nantes, France.; Uyttebroeck S; Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, Research Group Genetics, Reproduction and Development, Centre for Medical Genetics, 1090 Brussels, Belgium.; Van Schil K; Center for Medical Genetics Antwerp, Antwerp University Hospital, 2650 Antwerp, Belgium.; Wuyts W; Center for Medical Genetics Antwerp, Antwerp University Hospital, 2650 Antwerp, Belgium.; Rendtorff ND; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark.; Bertelsen M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark.; Mey K; Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.; Blanc P; Laboratoire SeqOIA, 75014 Paris, France.; Champ J; Laboratoire SeqOIA, 75014 Paris, France.; Boespflug-Tanguy O; Service de Neurologie Pédiatrique, DMU INOV-RDB, APHP, Hôpital Robert Debré, 75019 Paris, France; Université Paris Cité, UMR 1141, INSERM, Hôpital Robert Debré, 75019 Paris, France.; Cantagrel V; Developmental Brain Disorders Laboratory, Institut Imagine, Université Paris Cité, INSERM, UMR 1163, 75015 Paris, France.; Burglen L; Developmental Brain Disorders Laboratory, Institut Imagine, Université Paris Cité, INSERM, UMR 1163, 75015 Paris, France; Centre de référence des malformations et maladies congénitales du cervelet et Laboratoire de neurogénétique pédiatrique, Département de génétique, APHP, Sorbonne Université, Hôpital Armand-Trousseau, 75012 Paris, France. Electronic address: lydie.burglen@aphp.fr.; Coolen M; Developmental Brain Disorders Laboratory, Institut Imagine, Université Paris Cité, INSERM, UMR 1163, 75015 Paris, France. Electronic address: marion.coolen@inserm.fr.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Lebon S; Université Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France.; Bruneel A; Université Paris-Saclay, Inserm UMR1193, Faculté de Pharmacie, Orsay, France.; AP-HP Département de Biochimie Métabolique et Cellulaire, Hôpital Bichat, Paris, France.; Drunat S; Université Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France.; AP-HP Département de Génétique, Hôpital Robert Debré, Paris, France.; Albert A; Université Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France.; Csaba Z; Université Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France.; Elmaleh M; AP-HP Département de Radiologie Pédiatrique, Hôpital Robert Debré, Paris, France.; Ntorkou A; AP-HP Département de Radiologie Pédiatrique, Hôpital Robert Debré, Paris, France.; Ténier Y; Université Paris Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé, MetaboHUB, Gif sur Yvette, France.; Fenaille F; Université Paris Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé, MetaboHUB, Gif sur Yvette, France.; Gressens P; Université Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France.; Passemard S; Université Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France.; AP-HP Département de Neurologie Pédiatrique, Hôpital Robert Debré, Paris, France.; Boespflug-Tanguy O; Université Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France.; AP-HP Département de Neurologie Pédiatrique, Hôpital Robert Debré, Paris, France.; Dorboz I; Université Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France imen.dorboz@aphp.fr.; AP-HP Département de Neurologie Pédiatrique, Hôpital Robert Debré, Paris, France.; El Ghouzzi V; Université Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France vincent.elghouzzi@inserm.fr.

Publisher: Life Science Alliance, LLC Country of Publication: United States NLM ID: 101728869 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2575-1077 (Electronic) Linking ISSN: 25751077 NLM ISO Abbreviation: Life Sci Alliance Subsets: MEDLINE

Masson, R; Mazurkiewicz-Bełdzińska, M; Rose, K; Servais, L; Xiong, H; Zanoteli, E; Baranello, G; Bruno, C; Day, JW; Deconinck, N; Klein, A; Mercuri, E; Vlodavets, D; Wang, Y; Dodman, A; El-Khairi, M; Gorni, K; Jaber, B; Kletzl, H; Gaki, E; Fontoura, P; Darras, BT; Volpe, JJ; Posner, J; Kellner, U; Quinlivan, R; Gerber, M; Khwaja, O; Scalco, RS; Seabrook, T; Koch, A; Balikova, I; Joniau, I; Accou, G; Tahon, V; Wittevrongel, S; De Vos, E; de Holanda Mendonça, R; Matsui, C; Fornazieri Darcie, AL; Machado, C; Kiyoko Oyamada, M; Martini, J; Polido, G; Rodrigues Iannicelli, J; Caires de Oliveira Achili Ferreira, J; Hu, C; Zhu, X; Qian, C; Shen, L; Li, H; Shi, Y; Zhou, S; Xiao, Y; Zhou, Z; Wang, S; Sang, T; Wei, C; Dong, H; Cao, Y; Wen, J; Li, W; Qin, L; Barisic, N; Celovec, I; Galiot Delic, M; Ivkic, PK; Vukojevic, N; Kern, I; Najdanovic, B; Skugor, M; Tomas, J; Boespflug-Tanguy, O; De Lucia, S; Seferian, A; Barreau, E; Mnafek, N; Peche, H; Grange, A; Trang Nguyen, D; Milascevic, D; Tachibana, S; Pagliano, E; Bianchi Marzoli, S; Santarsiero, D; Garcia Sierra, M; Tremolada, G; Arnoldi, MT; Vigano, M; Dosi, C; Zanin, R; Schembri, V; Brolatti, N; Rao, G; Tassara, E; Morando, S; Tacchetti, P; Pedemonte, M; Priolo, E; Sposetti, L

Rice, G. I.; Park, S.; Gavazzi, F.; Adang, L. A.; Ayuk, L. A.; Van Eyck, L.; Seabra, L.; Barrea, C.; Battini, R.; Belot, A.; Berg, S.; de Villemeur, T. B.; Bley, A. E.; Blumkin, L.; Boespflug-Tanguy, O.; Briggs, T. A.; Brimble, E.; Dale, R. C.; Darin, Niklas, 1964; Debray, F. G.; De Giorgis, V.; Denecke, J.; Doummar, D.; af Hagelsrum, G. D.; Eleftheriou, D.; Estienne, M.; Fazzi, E.; Feillet, F.; Galli, J.; Hartog, N.; Harvengt, J.; Heron, B.; Heron, D.; Kelly, D. A.; Lev, D.; Levrat, V.; Livingston, J. H.; Marti, I.; Mignot, C.; Mochel, F.; Nougues, M. C.; Oppermann, I.; Perez-Duenas, B.; Popp, B.; Rodero, M. P.; Rodriguez, D.; Saletti, V.; Sharpe, C.; Tonduti, D.; Vadlamani, G.; Van Haren, K.; Vila, M. T.; Vogt, J.; Wassmer, E.; Wiedemann, A.; Wilson, C. J.; Zerem, A.; Zweier, C.; Zuberi, S. M.; Orcesi, S.; Vanderver, A. L.; Hur, S.; Crow, Y. J.

Human Mutation. 41(4):837-49

Goemans, N; Day, J; Deconinck, N; Mazzone, E; Nascimento, A; Oskoui, M; Saito, K; Vuillerot, C; Baranello, G; Boespflug-Tanguy, O; Kirschner, J; Kostera-Pruszczyk, A; Servais, L; Braid, J; Gerber, M; Gorni, K; Martin, C; Scalco, R; Yeung, W; Mercuri, E

EUROPEAN JOURNAL OF NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Gerasimenko A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpital la Pitié Salpêtrière, Paris, France.; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France.; Mignot C; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpital la Pitié Salpêtrière, Paris, France.; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France.; Naggara O; Université Paris Cité, INSERM UMR 1266 IMA-BRAIN, GHU Paris, Service de Neuroradiologie, Paris, France.; APHP.Université Paris Cité, Institut Imagine, INSERM U1000, Hôpital Necker - Enfants Malades, Service de Radiologie Pédiatrique UMR 1163, Paris, France.; APHP.Université Paris Cité, Centre Français pour les AVC Pédiatriques, INSERM U894, Paris, France.; Coulet F; Sorbonne Université, INSERM, Unité Mixte de Recherche Scientifique 938 et SIRIC CURAMUS, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Paris, France.; Département de Génétique Médicale, APHP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France.; Ekram S; Department of Medical Genetics, College of Medicine, Umm Al-Qura University, Mecca, Saudi Arabia.; Heide S; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France.; Sorato C; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France.; Mazowiecki M; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France.; Perrin L; APHP.Université Paris Cité, Hôpital Robert-Debré, Service de Génétique, Paris, France.; Colas C; Université Paris Sciences Lettres, Institut Curie, Service de Génétique, Paris, France.; Cusin V; Département de Génétique Médicale, APHP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France.; Caux F; GH Paris Seine-Saint-Denis, INSERM UMR1125, Service de Dermatologie, Bobigny, France.; Dardenne A; APHP.Sorbonne Université, Hôpital Saint-Antoine, Oncologie Gigestive, Paris, France.; El Chehadeh S; Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Institut de Génétique Médicale d'Alsace (IGMA), Service de Génétique Médicale, Strasbourg, France.; Verloes A; APHP.Université Paris Cité, Hôpital Robert-Debré, Service de Génétique, Paris, France.; INSERM U1141, Hôpital Robert-Debré, Paris, France.; Maurey H; Hôpitaux Universitaires Paris Saclay, Hôpital Bicêtre, Centre National de Référence pour les Maladies Rares du Cerveau et de la Moelle Épinière, Service de Neurologie Pédiatrique, Le Kremlin Bicêtre, France.; Afenjar A; Groupe d'Étude Interdisciplinaire pour les Malformations Vasculaires, Hôpitaux Lariboisière, Bichat, Saint-Joseph, Clinique Alma, Paris, France.; Petit F; APHP.Sorbonne Université, GH Trousseau, Département de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France.; Barete S; Université de Lille, ULR7364 RADEME, CHU Lille, Clinique de Génétique, Guy Fontaine, Lille, France.; Boespflug-Tanguy O; APHP.Sorbonne Université, GH Pitié-Salpêtrière, Service de Dermatologie, Paris, France.; APHP.Université Paris Cité, Hôpital Robert Debré, Service de Neuropédiatrie, Paris, France.; Bourrat E; Université Paris Cité, NeuroDiderot, UMR 1141, Paris, France.; Capri Y; APHP.Université Paris Cité, Hôpital Robert-Debré, Service de Génétique, Paris, France.; Ciorna V; Hôpital-Saint Louis, CRMR MAGEC Nord St Louis, Service de Dermatologie, Paris, France.; Deb W; CHR Metz-Thionville, Service de Génétique, Metz, France.; Doummar D; CHU Nantes, Service de Génétique Médicale, Nantes, France.; Perrier A; Sorbonne Université, INSERM, Unité Mixte de Recherche Scientifique 938 et SIRIC CURAMUS, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Paris, France.; Département de Génétique Médicale, APHP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France.; Guédon A; APHP.Sorbonne Université, CHU Armand Trousseau, Service de Neuropédiatrie-Pathologie du développement, Centre de Référence Maladies Rares Neurogénétiques, Paris, France.; Houdart E; APHP.Sorbonne Université, CHU Armand Trousseau, Service de Neuropédiatrie-Pathologie du développement, Centre de Référence Maladies Rares Neurogénétiques, Paris, France.; Isidor B; CHR Metz-Thionville, Service de Génétique, Metz, France.; Jacquemont ML; APHP.Université Paris Cité, Service de Neuroradiologie Diagnostique et Interventionnelle, CHU Lariboisière, Paris, France.; Buffet C; Service de Génétique Médicale, CHU Ste-Justine, Montréal, Canada.; Mercier S; CHR Metz-Thionville, Service de Génétique, Metz, France.; Passemard S; APHP.Sorbonne Université, Service de pathologies Thyroïdiennes et Tumorales Endocrines, Hôpital La Pitié-Salpêtrière, Paris, France.; Riquet A; APHP.Université Paris Cité, Inserm UMR 1141, NeuroDiderotFrance, Hôpital Robert Debré, Service de Neurologie Pédiatrique, DMU INOV-RDB, Paris, France.; Ruaud L; APHP.Université Paris Cité, Hôpital Robert-Debré, Service de Génétique, Paris, France.; INSERM U1141, Hôpital Robert-Debré, Paris, France.; Schaefer E; Département de Neurologie Pédiatrique, GHICL, Hôpital Saint Vincent de Paul, Lille, France.; Heron D; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpital la Pitié Salpêtrière, Paris, France.; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France.; Bisdorff A; APHP.Sorbonne Université, CHU Armand Trousseau, Service de Neuropédiatrie-Pathologie du développement, Centre de Référence Maladies Rares Neurogénétiques, Paris, France.; CHU de Strasbourg, Service de Génétique Médicale, IGMA, Strasbourg, France.; Benusiglio PR; Sorbonne Université, INSERM, Unité Mixte de Recherche Scientifique 938 et SIRIC CURAMUS, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Paris, France.; Département de Génétique Médicale, APHP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Mercuri, E.; Vilchez, J.; Boespflug-Tanguy, O.; Zaidman, C.; Mah, J.; Goemans, N.; Müller-Felber, W.; Niks, E.; Munell, F.; Schara, U.; Bertini, E.; Comi, G.; Mathews, K.; Servais, L.; Vandenborne, K.; Cazzaniga, S.; Coceani, N.; Bettica, P.; McDonald, C.

Neuromuscular Disorders. 32:S95-S96

Mutaz Amin; Cedric Vignal; Ahlam A. A. Hamed; Inaam N. Mohammed; Maha A. Elseed; Rayan Abubaker; Yousuf Bakhit; Arwa Babai; Eman Elbadi; Esraa Eltaraifee; Doua Mustafa; Ashraf Yahia; Melka Osman; Mahmoud Koko; Mohamed Mustafa; Mohamed Alsiddig; Sahwah Haroun; Azza Elshafea; Severine Drunat; Liena E. O. Elsayed; Ammar E. Ahmed; Odile Boespflug-Tanguy; Imen Dorboz

Frontiers in Genetics, Vol 13 (2022)

Derome M; Généthon, Évry, France - Université Paris-Saclay, Univ Évry, Inserm, Généthon, Integrare research unit UMR_S951, Évry, France.; Denard J; Généthon, Évry, France - Université Paris-Saclay, Univ Évry, Inserm, Généthon, Integrare research unit UMR_S951, Évry, France.; Marinello M; Généthon, Évry, France - Université Paris-Saclay, Univ Évry, Inserm, Généthon, Integrare research unit UMR_S951, Évry, France.; Levade T; Unité mixte de recherche Inserm 1037, CNRS 5071, Université Toulouse III-Paul Sabatier, Centre de recherches en cancérologie de Toulouse (CRCT), Toulouse, France - Laboratoire de biochimie, Institut fédératif de biologie, CHU Purpan, Toulouse, France.; Boespflug-Tanguy O; Université Paris Cité, Inserm, UMR 1141 NeuroDiderot, Paris, France ; AP-HP, Service de neurologie pédiatrique, Hôpital Robert Debré et Hôpital Trousseau, Paris, France.; Buj-Bello A; Généthon, Évry, France - Université Paris-Saclay, Univ Évry, Inserm, Généthon, Integrare research unit UMR_S951, Évry, France.

Publisher: EDK Country of Publication: France NLM ID: 8710980 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1958-5381 (Electronic) Linking ISSN: 07670974 NLM ISO Abbreviation: Med Sci (Paris) Subsets: MEDLINE

Tonduti, D.; Orcesi, S.; Jenkinson, E.M.; Dorboz, I.; Renaldo, F.; Panteghini, C.; Rice, G.I.; Henneke, M.; Livingston, J.H.; Elmaleh, M.; Burglen, L.; Willemsen, M.A.A.P.; Chiapparini, L.; Garavaglia, B.; Rodriguez, D.; Boespflug-Tanguy, O.; Moroni, I.; Crow, Y.J.

European Journal of Paediatric Neurology, 20, 4, pp. 604-10
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Day, J.; Deconinck, N.; Mazzone, E.; Nascimento, A.; Oskoui, M.; Saito, K.; Vuillerot, C.; Baranello, G.; Boespflug-Tanguy, O.; Goemans, N.; Kirschner, J.; Kostera-Pruszczyk, A.; Servais, L.; Braid, J.; Gerber, M.; Gorni, K.; Martin, C.; Scalco, R.; Yeung, W.; Mercuri, E.

Neuromuscular Disorders. 32:S89-S90

De Giorgis V; Department of Child Neurology and Psychiatry, Mondino Foundation, Pavia, Italy.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.; Boespflug-Tanguy O; Service de Neurologie Pédiatrique, Centre de Référence Leucodystrophies et Leucoencephalopathies de Cause Rare (LEUKOFRANCE), APHP Robert-Debré, Paris, France.; Gras D; Service de Neurologie Pédiatrique, Centre de Référence Leucodystrophies et Leucoencephalopathies de Cause Rare (LEUKOFRANCE), APHP Robert-Debré, Paris, France.; Marina AD; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Desurkar A; Neurology Department, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom.; Toledo M; Epilepsy Unit, Neurology Department, Hospital Vall d'Hebron, Barcelona, Spain.; Miller I; Department of Neurology and Comprehensive Epilepsy Program, Brain Institute, Miami Children's Hospital, Miami, Florida, USA.; Rotstein M; Pediatric Movement Disorders Service, The Pediatric Neurology Unite and Child Development Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Schneider SA; Department of Neurology, Ludwig-Maximilians-University of München, Munich, Germany.; Tarquinio DC; Center for Rare Neurological Diseases, Norcross, Georgia, USA.; Weber Y; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Section of Epileptology, Department of Neurology, University Hospital RWTH Aachen, Aachen, Germany.; Brandabur M; Ultragenyx Pharmaceutical Inc., Novato, California, USA.; Mayhew J; Ultragenyx Pharmaceutical Inc., Novato, California, USA.; Koutsoukos T; Ultragenyx Pharmaceutical Inc., Novato, California, USA.; De Vivo DC; Department of Neurology and Pediatrics, Columbia University, New York, New York, USA.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Kerdreux E; CEA Paris-Saclay, Frederic Joliot Institute, NeuroSpin, UNIACT, Gif-sur-Yvette, France.; Université Paris Cité, Inserm, NeuroDiderot, inDEV, Paris, France.; Fraize J; CEA Paris-Saclay, Frederic Joliot Institute, NeuroSpin, UNIACT, Gif-sur-Yvette, France.; Université Paris Cité, Inserm, NeuroDiderot, inDEV, Paris, France.; Garzón P; CEA Paris-Saclay, Frederic Joliot Institute, NeuroSpin, UNIACT, Gif-sur-Yvette, France.; Université Paris Cité, Inserm, NeuroDiderot, inDEV, Paris, France.; Chalain E; Genetics Department, Centre of Excellence InovAND, Robert-Debré Hospital, AP-HP, Paris, France.; Etchebarren L; Pediatric Neurology Department, Centre of Excellence InovAND, Robert-Debré Hospital, AP-HP, Paris, France.; Sitbon D; Pediatric Neurology Department, Centre of Excellence InovAND, Robert-Debré Hospital, AP-HP, Paris, France.; Maruani A; Child and Adolescent Psychiatry Department, Centre of Excellence InovAND, Robert-Debré Hospital, AP-HP, Paris, France.; Boespflug-Tanguy O; Université Paris Cité, Inserm, NeuroDiderot, NeuroDEV, Paris, France.; Hertz-Pannier L; CEA Paris-Saclay, Frederic Joliot Institute, NeuroSpin, UNIACT, Gif-sur-Yvette, France.; Université Paris Cité, Inserm, NeuroDiderot, inDEV, Paris, France.; Noulhiane M; CEA Paris-Saclay, Frederic Joliot Institute, NeuroSpin, UNIACT, Gif-sur-Yvette, France.; Université Paris Cité, Inserm, NeuroDiderot, inDEV, Paris, France.; Pinabiaux C; Université Paris Nanterre, Department of Psychology, DysCo Lab, Nanterre, France.; Germanaud D; CEA Paris-Saclay, Frederic Joliot Institute, NeuroSpin, UNIACT, Gif-sur-Yvette, France.; Université Paris Cité, Inserm, NeuroDiderot, inDEV, Paris, France.; Genetics Department, Centre of Excellence InovAND, Robert-Debré Hospital, AP-HP, Paris, France.

Publisher: Psychology Press Country of Publication: England NLM ID: 8806548 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-4144 (Electronic) Linking ISSN: 13854046 NLM ISO Abbreviation: Clin Neuropsychol Subsets: MEDLINE

Servais, L.; Baranello, G.; Boespflug-Tanguy, O.; Day, J.; Deconinck, N.; Klein, A.; Masson, R.; Mazurkiewicz-Bełdzińska, M.; Mercuri, E.; Rose, K.; Vlodavets, D.; Xiong, H.; Zanoteli, E.; El-Khairi, M.; Gerber, M.; Gorni, K.; Kletzl, H.; Palfreeman, L.; Dodman, A.; Gaki, E.; Darras, B.

Neuromuscular Disorders. 32:S88-S88

Beerepoot S; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC, Location Vrije Universiteit, Amsterdam, the Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, the Netherlands.; Nierkens and Lindemans Group, Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Schoenmakers DH; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC, Location Vrije Universiteit, Amsterdam, the Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, the Netherlands.; Platform 'Medicine for Society', Department of Endocrinology and Metabolism, Amsterdam UMC, Location University of Amsterdam, Amsterdam, the Netherlands.; Fumagalli F; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute, Milan, Italy.; Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurology and Neurophysiology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Groeschel S; Neuropaediatrics, General Paediatrics, Diabetology, Endocrinology and Social Paediatrics, University of Tübingen, University Hospital Tübingen, Tübingen, Germany.; Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Schiffmann R; Texas Christian University, Fort Worth, Texas, USA.; Wong S; Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China.; Boespflug-Tanguy O; AP-HP, Service de neuropédiatrie, French Reference Center for Leukodystrophies and Université Paris Cité, UMR 1141, INSERM, NeuroDiderot, Hopital Robert Debré, Paris, France.; Sevin C; TIDU GENOV, Institut du Cerveau et de la Moelle Épinière, ICM, Inserm UMR 1127, CNRS UMR 7225, Sorbonne Université, Paris, France.; Department of Neuropediatrics, French Reference Center for Leukodystrophies, Bicêtre Hospital, Paris, France.; Nadjar Y; Neuro-Metabolism Unit, Reference Center for Lysosomal and Metabolic Neurological Diseases, Department of Neurology, Pitié-Salpêtrière University Hospital, AP-HP, Paris, France.; Bley A; Department of Pediatrics, Leukodystrophy Clinic, University Medical Center Hamburg Eppendorf, Hamburg, Germany.; Mochel F; Reference Center for Neurometabolic Diseases and Leukodystrophies, Department of Medical Genetics, Pitié-Salpêtrière University Hospital, AP-HP, Paris, France.; Horn MA; Department of Neurology, Oslo University Hospital, Oslo, Norway.; Baldoli C; Neuroradiology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Locatelli S; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute, Milan, Italy.; Hengel H; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Laugwitz L; Neuropaediatrics, General Paediatrics, Diabetology, Endocrinology and Social Paediatrics, University of Tübingen, University Hospital Tübingen, Tübingen, Germany.; Hollak CEM; Platform 'Medicine for Society', Department of Endocrinology and Metabolism, Amsterdam UMC, Location University of Amsterdam, Amsterdam, the Netherlands.; Gieselmann V; Institute for Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany.; van der Knaap MS; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC, Location Vrije Universiteit, Amsterdam, the Netherlands.; Center for Neurogenomics and Cognitive Research, Integrative Neurophysiology, Amsterdam Neuroscience, Vrije Universiteit, Amsterdam, the Netherlands.; Wolf NI; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC, Location Vrije Universiteit, Amsterdam, the Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, the Netherlands.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE