부산대학교 도서관

Benezit Dictionary of Artists, 2011, ill.

Vincent-Munnia, Nathalie; Apercé, Charlotte; Dard, Solyane; Ducasse, Marine; Montes, Emmanuelle

Lopriore P; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.; Scuola Superiore Sant'Anna, Ph.D. School in Translational Medicine, Pisa, Italy.; Ünlütürk Z; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.; Neurology Clinic, University of Health Sciences Kocaeli Derince Training Hospital, Turkey.; Klopstock T; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU) München, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Karaa A; Massachusetts General Hospital Genetics Division, Harvard Medical School, Boston, MA.; Rouzier C; Service de génétique médicale, Centre de référence des maladies mitochondriales, CHU Nice, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice, France.; Domínguez-González C; Servicio de Neurología - Unidad de Neuromuscular - ERN-NMD CIBERER. Instituto de Investigación imas12. Hospital Universitario 12 de Octubre Madrid, Spain.; Lamperti C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Medical Genetics and Neurogenetics Unit, Milan, Italy.; Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.; Cecchi G; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.; Montano V; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.; Siciliano G; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.; Nicoletta V; Fondazione IRCCS Istituto Neurologico Carlo Besta, Medical Genetics and Neurogenetics Unit, Milan, Italy.; Maioli M; Ospedale Binaghi, Cagliari, Italy.; Primiano G; Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.; Servidei S; Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.; La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy.; Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy.; Valentino ML; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy.; Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Arena IG; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Italy.; Musumeci O; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Italy.; Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, Siena, Italy.; Malandrini A; Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, Siena, Italy.; Gallus GN; Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, Siena, Italy.; Filosto M; NeMO- Brescia Clinical Center for Neuromuscular Diseases; Department of Clinical and Experimental Sciences, University of Brescia, Italy.; Bello L; Department of Neurosciences, University of Padova, Padua, Italy.; Pegoraro E; Department of Neurosciences, University of Padova, Padua, Italy.; Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Italy.; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Magri F; Neuromuscular and Rare Disease Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Italy.; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Di Fonzo A; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Percetti M; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Italy.; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Azzimonti M; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Büchner B; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU) München, Germany.; Prokisch H; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum Munich, Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Germany.; German Center for Child and Adolescent Health (DZKJ), Partner Site Munich, Germany.; Bermejo-Guerrero L; Servicio de Neurología - Unidad de Neuromuscular - ERN-NMD CIBERER. Instituto de Investigación imas12. Hospital Universitario 12 de Octubre Madrid, Spain.; Procaccio V; Department of Genetics, CHU Angers, Univ Angers, UMR CNRS 6015-INSERM U1083, France.; Gaignard P; Department of Biochemistry, Bicêtre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, France.; Echaniz-Laguna A; Department of Neurology, Bicêtre Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, France.; Schiff M; Reference Center for Mitochondrial Disorders (CARAMMEL) and Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris-Cité, MetabERN, France.; INSERM UMRS_1163, Imagine Institute, Paris, France.; Rötig A; INSERM UMRS_1163, Imagine Institute, Paris, France.; Toutain A; Service de Génétique, Centre Hospitalier Universitaire de Tours; UMR 1253, iBrain, Université de Tours, Inserm, France.; Paquis-Flucklinger V; Service de génétique médicale, Centre de référence des maladies mitochondriales, CHU Nice, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice, France.; Morel G; Service de génétique CHU de la Réunion - Hôpital Félix Guyon Bellepierre 97405 SAINT-DENIS, France.; Robin S; Service de pédiatrie CHU de la Réunion - Hôpital Félix Guyon Bellepierre 97405 SAINT-DENIS.; Nadaj-Pakleza A; Centre de Référence des Maladies Neuromusculaires Nord / Est / Ile-de-France and ERN Euro-NMD, Service de Neurologie, Hôpitaux Universitaires de Strasbourg, France.; Chanson JB; Centre de Référence des Maladies Neuromusculaires Nord / Est / Ile-de-France and ERN Euro-NMD, Service de Neurologie, Hôpitaux Universitaires de Strasbourg, France.; Chaussenot A; Service de génétique médicale, Centre de référence des maladies mitochondriales, CHU Nice, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice, France.; Ait-El-Mkadem Saadi S; Service de génétique médicale, Centre de référence des maladies mitochondriales, CHU Nice, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice, France.; Trimouille A; Univ. Bordeaux, Inserm U1211 MRGM, Bordeaux, France.; CHU Bordeaux, Service de Pathologie, Bordeaux, France.; Tranchant C; Service de Neurologie, HôpitauxUniversitaires de Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France.; Fédération de MédecineTranslationnelle de Strasbourg (FMTS), Université de Strasbourg, France.; Salort-Campana E; Neuromuscular reference center PACA Réunion Rhône Alpes, department of Pr Attarian, La Timone Hospital, CHU deMarseille, 264 Rue Saint-Pierre, France.; FILNEMUS, neuromuscular rare diseases health care professional network, La Timone hospital, CHU de Marseille, 264 Rue Saint-Pierre, France.; Bieth E; Service de GénétiqueMédicale, Hopital Purpan, Toulouse, France.; Sacconi S; Peripheral Nervous System and Muscle Department, Université Cote d'Azur, CHU, Nice, France.; Duval F; Service de Neurologie et Maladies Neuromusculaires (F.D.), Groupe Hospitalier Pellegrin, Hôpitaux de Bordeaux.; Restrepo Vera JL; Department of Neurology, NeuromuscularDiseases Unit, Hospital Universitari Vall d'Hebron, UniversitatAutònoma de Barcelona, Spain.; Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University Clinical Center, Budapest, Hungary.; Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.; Haas R; Department of Neurosciences and Pediatrics, UCSD Medical Center and Rady Children's Hospital San Diego, La Jolla, CA.; Larson A; Section of Genetics, Department of Pediatrics, University of Colorado Denver and Children's Hospital Colorado, Aurora, CO.; Enns GM; Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital, Palo Alto, CA.; Parikh S; Mitochondrial Medicine Center, Department of Neurology, Center for Child Neurology, Cleveland Clinic Children's Hospital, OH.; Goldstein A; Children's Hospital of Philadelphia, PA; and.; Hirano M; Department of Neurology, Columbia University Medical Center, New York.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Claire, Almyre; Nolwenn, Bounaix; François, Godard; Olivier R, Baris; Anne-Louise, Cayer; Elodie, Sardin; Marine, Bouhier; Anaïs, Hoarau; Laetitia, Dard; Jérémy, Richard; Vanessa, Bergeron; Aurélie, Renaud; Nadege, Loaëc; Naïg, Gueguen; Valérie, Desquiret-Dumas; Bénédicte, Lelievre; Aurore, Inisan; Cristina, Panozzo; Genevève, Dujardin; Marc, Blondel; Agnes, Rötig; Véronique, Paquis-Flucklinger; Stéphane, Azoulay; Nathalie, Bonnefoy; Carole H, Sellem; Agnès, Delahodde; Vincent, Procaccio; Déborah, Tribouillard-Tanvier

Human Molecular Genetics. 34:1072-1085

Paula Rubens; Anne Mayeur; Kalliopi Chatzovoulou; Nadine Gigarel; Sophie Monnot; Agnès Rötig; Arnold Munnich; Nelly Frydman; Julie Steffann

Human Reproduction. 40:956-961

Pauline Planté‐Bordeneuve; Claire‐Marine Bérat; Sylvain Hanein; Cyril Gitiaux; Julie Steffann; Isabelle Desguerre; Agnès Rötig; Nathalie Boddaert; Giulia Barcia

Developmental Medicine & Child Neurology.

Boutaud L; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Genetics and development of the cerebral cortex, Université Paris Cité, Imagine institute, 75015 Paris, France.; Embryology and genetics of human malformations, Université Paris Cité, Imagine institute, Inserm UMR 1163, 75015 Paris, France.; Ruzzenente B; Genetics of mitochondrial disorders, Université Paris Cité, Imagine Institute, Inserm UMR 1163, 75015 Paris, France.; Tessier A; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Anselem O; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France.; Pannier E; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France.; Grotto S; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France.; Talhi N; Pathological Anatomy and Cytology, Centre Hospitalier Intercommunal de Créteil, 94000 Créteil, France.; Amram D; Medical Genetics Department, Centre Hospitalier Intercommunal de Créteil, 94000 Créteil, France.; Willems M; Medical Genetics Department, Reference Center AD SOOR, AnDDI-RARE, Inserm U1298, INM, Montpellier University, Montpellier university Hospital, 34295 Montpellier, France.; Wells C; Medical Genetics Department, Montpellier university Hospital, 34295 Montpellier, France.; Pathological Anatomy and Cytology, Montpellier university Hospital, 34295 Montpellier, France.; Blanchet P; Pathological Anatomy and Cytology, Montpellier university Hospital, 34295 Montpellier, France.; Musizzano Y; Pathological Anatomy and Cytology, Montpellier university Hospital, 34295 Montpellier, France.; Jauny C; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France.; Nitschke P; Bioinformatics platform, Structure Fédérative de Recherche de Necker, Université Paris Cité, Institut Imagine, Inserm UMR 1163, 75015 Paris, France.; Bole-Feysot C; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Paris Descartes Sorbonne Paris Cite University, 75015 Paris, France.; Bessières B; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Salhi H; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Achaiaa A; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Metodiev MD; Genetics of mitochondrial disorders, Université Paris Cité, Imagine Institute, Inserm UMR 1163, 75015 Paris, France.; Razavi F; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Rötig A; Genetics of mitochondrial disorders, Université Paris Cité, Imagine Institute, Inserm UMR 1163, 75015 Paris, France.; Loeuilllet L; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Attié-Bitach T; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Genetics and development of the cerebral cortex, Université Paris Cité, Imagine institute, 75015 Paris, France.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Chatzovoulou K; Paris-Cité University, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163, Paris, France.; Mayeur A; Reproductive Biology Department, CECOS, Paris-Saclay University, Antoine-Béclère Hospital, APHP, Clamart, France.; Cagnard N; Bioinformatics Core Facility, Paris-Cité University-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France.; Zarhrate M; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 and INSERM US24/CNRS UAR3633, Paris Descartes Sorbonne Paris Cite University, Paris, France.; Bole C; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 and INSERM US24/CNRS UAR3633, Paris Descartes Sorbonne Paris Cite University, Paris, France.; Nitschke P; Bioinformatics Core Facility, Paris-Cité University-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France.; Jabot-Hanin F; Bioinformatics Core Facility, Paris-Cité University-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France.; Rötig A; Paris-Cité University, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163, Paris, France.; Monnot S; Genomic Medicine Department, Necker-Enfants Malades Hospital, APHP, Paris, France.; Munnich A; Paris-Cité University, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163, Paris, France.; Genomic Medicine Department, Necker-Enfants Malades Hospital, APHP, Paris, France.; Frydman N; Reproductive Biology Department, CECOS, Paris-Saclay University, Antoine-Béclère Hospital, APHP, Clamart, France.; Steffann J; Paris-Cité University, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163, Paris, France.; Genomic Medicine Department, Necker-Enfants Malades Hospital, APHP, Paris, France.

Publisher: Oxford University Press Country of Publication: England NLM ID: 8701199 Publication Model: Print Cited Medium: Internet ISSN: 1460-2350 (Electronic) Linking ISSN: 02681161 NLM ISO Abbreviation: Hum Reprod Subsets: MEDLINE

Fatemeh Peymani; Tomohiro Ebihara; Dmitrii Smirnov; Robert Kopajtich; Masahiro Ando; Enrico Bertini; Rosalba Carrozzo; Daria Diodato; Felix Distelmaier; Fang Fang; Daniele Ghezzi; Maja Hempel; Katarzyna Iwanicka-Pronicka; Thomas Klopstock; Sarah L Stenton; Costanza Lamperti; Zhimei Liu; Aysylu Murtazina; Yuji Okamoto; Yasushi Okazaki; Dorota Piekutowska-Abramczuk; Agnés Rötig; Oxana Ryzhkova; Christian Schlein; Olga Shagina; Hiroshi Takashima; Polina G Tsygankova; Michael Zech; Thomas Meitinger; Masaru Shimura; Kei Murayama; Holger Prokisch

Brain.

Bérat, Claire-Marine ; Hully, Marie ; Rötig, Agnès ; Barcia, Giulia ; Assouline, Zahra ; Abi-Warde, Marie-Thérèse ; Barnerias, Christine ; Payen, Elise ; Jaroussie, Marianne ; Gaignard, Pauline ; Lebigot, Elise ; Roubertie, Agathe ; Boddaert, Nathalie ; Roux, Charles-Joris ; de Lonlay, Pascale ; Desguerre, Isabelle ; Munnich, Arnold ; Schiff, Manuel ; Gitiaux, Cyril

In Molecular Genetics and Metabolism September-October 2025 146(1-2)

Sylvia Rose; Aurélien Trimouille; Didier Lacombe; Edoardo Malfatti; Zahra Assouline; Julie Steffann; Isabelle Desguerre; Arnold Munnich; Agnès Rötig; Giulia Barcia

Molecular Genetics and Metabolism Reports, Vol 43, Iss , Pp 101230- (2025)

Mandia, Daniele; Metodiev, Metodi D.; Benoist, Jean-francois; Gaignard, Pauline; Ruzzenente, Benedetta; Zuchner, Stephan; Beijer, Danique; Fernandez-eulate, Gorka; Rotig, Agnes; Lamari, Foudil; Rucheton, Benoit; Rouzier, Cecile; Navarro, Lucile Riera; Saadi, Samira Ait-El-Mkadem; Cintas, Pascal; Maquet, Julien; Masingue, Marion; Shor, Natalia; Nadjar, Yann

JOURNAL OF INHERITED METABOLIC DISEASE; JAN 8 2026, 49 1, pe70139 7p.

Andrew Y. Sung; Rachel M. Guerra; Laura H. Steenberge; Charlotte L. Alston; Kei Murayama; Yasushi Okazaki; Masaru Shimura; Holger Prokisch; Daniele Ghezzi; Alessandra Torraco; Rosalba Carrozzo; Agnès Rötig; Robert W. Taylor; James L. Keck; David J. Pagliarini

Nat. Metab., DOI: 10.1038/s42255-024-01039-2 (2024)

Daria Diodato; Manuel Schiff; Bruce H. Cohen; Enrico Bertini; Shamima Rahman; Anna Ardissone; John Christodoulou; Marni Falk; Amy Goldstein; Richard Haas; Rita Horvath; Robert McFarland; Kei Murayama; Hitoshi Osaka; Alessandro Prigione; Holger Prokisch; Agnès Rötig; Markus Schuelke; Anu Suomalainen-Waartiovara; David Thorburn; Jiri Zeman; Zarazuela Zolkipli-Cunningham; Pieti Pällijeff; Alessandra Pennisi; Matthew Klein; Alison Maguire; Katie Waller; null Amanda; Faye Wylie; Philip Yeske

Neuromuscular Disorders. 33:700-709

Sung, Andrew Y.; Guerra, Rachel M.; Steenberge, Laura H.; Alston, Charlotte L.; Murayama, Kei; Okazaki, Yasushi; Shimura, Masaru; Prokisch, Holger; Ghezzi, Daniele; Torraco, Alessandra; Carrozzo, Rosalba; Rötig, Agnès; Taylor, Robert W.; Keck, James L.; Pagliarini, David J.

Nature Metabolism. 6(6):1128-1142

Clément Pontoizeau; Clovis Gaborit; Nolan Tual; Marcelo Simon‐Sola; Irina Rotaru; Marion Benoist; Pasqualina Colella; Antonin Lamazière; Anaïs Brassier; Jean‐Baptiste Arnoux; Agnès Rötig; Chris Ottolenghi; Pascale de Lonlay; Federico Mingozzi; Marina Cavazzana; Manuel Schiff

Journal of Inherited Metabolic Disease. 47:41-49

Rötig, Agnès; Gaignard, Pauline; Barcia, Giulia; Assouline, Zahra; Berat, Claire-Marine; Barth, Magalie; Damaj, Léna; Laborde, Nolwenn; Abi-Warde, Marie-Thérèse; Chabrol, Brigitte; De Lonlay, Pascale; Desguerre, Isabelle; Goldenberg, Alice; Gonzales, Emmanuel; Jacquemin, Emmanuel; Amati -Bonneau, Patrizia; Bonneau, Dominique; Abadie, Véronique; Bonnemains, Chrystèle; Broue, Pierre; de Saint-Martin, Anne; Durand, Philippe; Fouilhoux, Alain; Isidor, Bertrand; Jaroussie, Marianne; Jedraszak, Guillaume; Maurey, Hélène; Mention, Karine; Odent, Sylvie; Pasquier, Laurent; Rougeot-Jung, Christelle; Gitiaux, Cyril; Roux, Charles-Joris; Boddaert, Nathalie; Munnich, Arnold; Schiff, Manuel

Neurol Genet

Durrant, Christelle; Fuehring, Jana I; Willemetz, Alexandra; Chrétien, Dominique; Sala, Giusy; Ghidoni, Riccardo; Katz, Abram; Rötig, Agnès; Thelestam, Monica; Ermonval, Myriam; Moore, Stuart E H

International Journal of Molecular Sciences. 21(6)

Pulman J; INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.; Ruzzenente B; INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.; Bianchi L; INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.; Rio M; Departments of Pediatrics, Neurology and Genetics, Hôpital Necker-Enfants Malades, Paris, France.; Boddaert N; Department of Pediatric Radiology, INSERM 1000 and INSERM UMR1163, Hôpital Necker-Enfants Malades AP-HP, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.; Munnich A; INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.; Departments of Pediatrics, Neurology and Genetics, Hôpital Necker-Enfants Malades, Paris, France.; Rötig A; INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.; Metodiev MD; INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E. ; Schlieben, Lea D. ; Prokisch, Holger ; Feichtinger, René G. ; Mayr, Johannes A. ; Brennenstuhl, Heiko ; Schröter, Julian ; Pechlaner, Agnes ; Alkuraya, Fowzan S. ; Baker, Joshua J. ; Barcia, Giulia ; Baric, Ivo ; Braverman, Nancy ; Burnyte, Birute ; Christodoulou, John ; Ciara, Elzbieta ; Coman, David ; Das, Anibh M. ; Darin, Niklas ; Della Marina, Adela ; Distelmaier, Felix ; Eklund, Erik A. ; Ersoy, Melike ; Fang, Weiyan ; Gaignard, Pauline ; Ganetzky, Rebecca D. ; Gonzales, Emmanuel ; Howard, Caoimhe ; Hughes, Joanne ; Konstantopoulou, Vassiliki ; Kose, Melis ; Kerr, Marina ; Khan, Aneal ; Lenz, Dominic ; McFarland, Robert ; Margolis, Merav Gil ; Morrison, Kevin ; Müller, Thomas ; Murayama, Kei ; Nicastro, Emanuele ; Pennisi, Alessandra ; Peters, Heidi ; Piekutowska-Abramczuk, Dorota ; Rötig, Agnès ; Santer, René ; Scaglia, Fernando ; Schiff, Manuel ; Shagrani, Mohmmad ; Sharrard, Mark ; Soler-Alfonso, Claudia ; Staufner, Christian ; Storey, Imogen ; Stormon, Michael ; Taylor, Robert W. ; Thorburn, David R. ; Teles, Elisa Leao ; Wang, Jian-She ; Weghuber, Daniel ; Wortmann, Saskia

In Genetics in Medicine June 2023 25(6)