부산대학교 도서관

Nunziata Maio; Rotem Orbach; Irina T. Zaharieva; Ana Töpf; Sandra Donkervoort; Pinki Munot; Juliane Mueller; Tracey Willis; Sumit Verma; Stojan Peric; Deepa Krishnakumar; Sniya Sudhakar; A. Reghan Foley; Sarah Silverstein; Ganka Douglas; Lynn Pais; Stephanie DiTroia; Christopher Grunseich; Ying Hu; Caroline Sewry; Anna Sarkozy; Volker Straub; Francesco Muntoni; Tracey A. Rouault; Carsten G. Bönnemann

The Journal of Clinical Investigation, Vol 134, Iss 12 (2024)

Sarah L. Stenton; Kristen Laricchia; Nicole J. Lake; Sushma Chaluvadi; Vijay Ganesh; Stephanie DiTroia; Ikeoluwa Osei-Owusu; Lynn Pais; Emily O’Heir; Christina Austin-Tse; Melanie O’Leary; Mayada Abu Shanap; Chelsea Barrows; Seth Berger; Carsten G. Bönnemann; Kinga M. Bujakowska; Dean R. Campagna; Alison G. Compton; Sandra Donkervoort; Mark D. Fleming; Lyndon Gallacher; Joseph G. Gleeson; Goknur Haliloglu; Eric A. Pierce; Emily M. Place; Vijay G. Sankaran; Akiko Shimamura; Zornitza Stark; Tiong Yang Tan; David R. Thorburn; Susan M. White; Maha S. Zaki; Eric Vilain; Monkol Lek; Heidi L. Rehm; Anne O’Donnell-Luria

HGG Advances, Vol 6, Iss 3, Pp 100441- (2025)

Ross JE; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Flowers M; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; McNulty S; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Patel M; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Yang H; GeneDx, Gaithersburg, MD, USA.; Palus B; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Abdelmoneim Elnagheeb M; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Eng L; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Owens E; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, National Institute of Neurological Disorders, Bethesda, USA.; Dowling J; Division of Neurology, Program for Genetics and Genome Biology, Hospital for Sick Children, Toronto, Canada.; Fattori F; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Ferreiro A; Basic and Translational Myology Laboratory, Université de Paris, Paris, France.; Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Gonorazky H; Basic and Translational Myology Laboratory, Université de Paris, Paris, France.; Lek M; Department of Genetics, Yale School of Medicine, New Haven, USA.; Lindy A; GeneDx, Gaithersburg, MD, USA.; Medne L; Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, USA.; Muntoni F; Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, UK.; Pajusalu S; Department of Genetics, Yale School of Medicine, New Haven, USA.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Pelin K; Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland.; Rendu J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.; Sarkozy A; Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, UK.; Vatta M; Labcorp Genetics Inc. (formerly Invitae Corp.), San Francisco, CA, USA.; Winder T; Labcorp Genetics Inc. (formerly Invitae Corp.), San Francisco, CA, USA.; Yoon G; Divisions of Neurology and Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, National Institute of Neurological Disorders, Bethesda, USA.; Ceyhan-Birsoy O; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Orbach, R.; Maio, N.; Donkervoort, S.; Foley, A.; Chao, K.; Lehky, T.; Silverstein, S.; Potticary, A.; Rouault, T.; Butterfield, R.; Bönnemann, C.

Neuromuscular Disorders. 43

Donkervoort, S.; Orbach, R.; Silverstein, S.; Potticary, A.; Stenton, S.; Karachunski, P.; Bönnemann, C.

Neuromuscular Disorders. 43

Haliloğlu, G.; Donkervoort, S.; Yıldız, S. Öz; Özel, E.; Pais, L.; Ganesh, V.; O'Donnell-Luria, A.; Bönnemann, C.

Neuromuscular Disorders. 43

Silverstein, S.; Donkervoort, S.; Cassini, T.; Vetrini, F.; Conboy, E.; Comer, A.; Treat, K.; Liaqat, K.; Mantcheva, L.; Patankar, A.; Bharucha-Goebel, D.; Foley, A.; Chao, K.; Neuhaus, S.; Grunseich, C.; Bonnemann, C.

Neuromuscular Disorders. 43

Maio N; Orbach R; Zaharieva I; Töpf A; Donkervoort S; Munot P; Mueller J; Willis T; Verma S; Peric S; Krishnakumar D; Sudhakar S; Foley AR; Silverstein S; Douglas G; Pais L; DiTroia S; Grunseich C; Hu Y; Sewry C; Sarkozy A; Straub V; Muntoni F; Rouault T; Bönnemann CG

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Bharucha-Goebel, D.; Lee, M.; Saade, D.; Donkervoort, S.; Yun, P.; Mohassel, P.; Neuhaus, S.; Ogata, T.; Averion, G.; Mendoza, C.; Alter, K.; Matsubara, J.; Stanley, C.; Zampieri, C.; Lehky, T.; Nickolls, A.; Chesler, A.; Foley, A.; Bonnemann, C.

Neuromuscular Disorders. 43

Silverstein, S.; Ganapathy, K.; Donkervoort, S.; Moy, J.; Uapinyoying, B.; Gorokhova, S.; Ganesh, V.; Weisburd, B.; Orbach, R.; Foley, A.; Mohammadi, P.; Adams, D.; Bonnemann, C.

Neuromuscular Disorders. 43

Gunasekaran M; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.; Littel HR; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.; Wells NM; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.; Turner J; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.; Campos G; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.; Venigalla S; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.; Estrella EA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Ghosh PS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Daugherty AL; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.; Stafki SA; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.; Kunkel LM; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Toledo-Bravo de Laguna L; Department of Pediatrics, Hospital Materno-Infantil, Las Palmas de Gran Canaria, Spain.; Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Draper I; Molecular Cardiology Research Institute, Tufts Medical Center, Boston, MA, USA.; Bruels CC; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.; Pacak CA; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.; Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.; Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA.

Publisher: Published by Blackwell Pub. on behalf of the Federation of European Biochemical Societies Country of Publication: England NLM ID: 101229646 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1742-4658 (Electronic) Linking ISSN: 1742464X NLM ISO Abbreviation: FEBS J Subsets: MEDLINE

Haugland, S.; Orbach, R.; McAnally, M.; Donkervoort, S.; Foley, A.; Bonnemann, C.

Neuromuscular Disorders. 43

Sandra Donkervoort; Payam Mohassel; Melanie O'Leary; Devon E. Bonner; Taila Hartley; Nicole Acquaye; Astrid Brull; Tahseen Mozaffar; Mario A. Saporta; David A. Dyment; Jacinda B. Sampson; Sander Pajusalu; Christina Austin‐Tse; Kyle Hurth; Julie S. Cohen; Kirsty McWalter; Jodi Warman‐Chardon; Amy Crunk; A. Reghan Foley; Undiagnosed Diseases Network; Andrew L. Mammen; Matthew T. Wheeler; Anne O'Donnell‐Luria; Carsten G. Bönnemann

Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 629-640 (2024)

Foley, A.; Bolduc, V.; Guirguis, F.; Donkervoort, S.; Hu, Y.; Orbach, R.; Mohassel, P.; Zhou, H.; Aguti, S.; Jimenez-Mallebrera, C.; Lamandé, S.; Allamand, V.; Gualandi, F.; Ferlini, A.; Wilton, S.; Wagener, R.; Bertini, E.; Muntoni, F.; Bönnemann, C.

Neuromuscular Disorders. 43

Haliloğlu, G.; Donkervoort, S.; Weisburd, B.; Öz Yıldız, S.; Ceylaner, S.; Pais, L.; O'Donnell-Luria, A.; Bönnemann, C.

Neuromuscular Disorders. 43

McAnally, M.; Potticary, A.; Donkervoort, S.; Hu, Y.; Huryn, L.; Pais, L.; Harper, A.; Foley, A.; Bönnemann, C.

Neuromuscular Disorders. 43

McAnally, M.; Potticary, A.; Hayes, L.; Clayton, J.; Haliloğlu, G.; Donkervoort, S.; Yang, M.; Gibbons, M.; Gross, B.; Foley, A.; Guglieri, M.; Lee, T.; Munot, P.; Sarkozy, A.; Muntoni, F.; Straub, V.; Laing, N.; Beggs, A.; Bönnemann, C.

Neuromuscular Disorders. 43

Donkervoort, S.; McCarty, R.; Saade, D.; Munot, P.; Laverty, C.; Pinz, H.; Zou, Y.; McNally, M.; Yun, P.; Tian, C.; Töpf, A.; Phadke, R.; Malicki, D.; Friedman, J.; Foley, A.; Gleeson, J.; Lotze, T.; Muntoni, F.; Straub, V.; Bönnemann, C.

Neuromuscular Disorders. 43

Nagi, SS; Marshall, AG; Makdani, A; Jarocka, E; Liljencrantz, J; Ridderstrom, M; Shaikh, S; O'Neill, F; Saade, D; Donkervoort, S

SCIENCE ADVANCES. 5(7)

Potticary, A.; McAnally, M.; Donkervoort, S.; Bönnemann, C.

Neuromuscular Disorders. 43