부산대학교 도서관

Rebecca Meyer-Schuman; Allison R. Cale; Jennifer A. Pierluissi; Kira E. Jonatzke; Young N. Park; Guy M. Lenk; Stephanie N. Oprescu; Marina A. Grachtchouk; Andrzej A. Dlugosz; Asim A. Beg; Miriam H. Meisler; Anthony Antonellis

HGG Advances, Vol 5, Iss 3, Pp 100324- (2024)

Meyer-Schuman, Rebecca; Cale, Allison R.; Pierluissi, Jennifer A.; Jonatzke, Kira E.; Park, Young N.; Lenk, Guy M.; Oprescu, Stephanie N.; Grachtchouk, Marina A.; Dlugosz, Andrzej A.; Beg, Asim A.; Meisler, Miriam H.; Antonellis, Anthony

In Human Genetics and Genomics Advances 18 July 2024 5(3)

Morelli, Kathryn H.; Griffin, Laurie B.; Pyne, Nettie K.; Wallace, Lindsay M.; Fowler, Allison M.; Oprescu, Stephanie N.; Takase, Ryuichi; Wei, Na; Meyer-Schuman, Rebecca; Mellacheruvu, Dattatreya; Kitzman, Jacob O.; Kocen, Samuel G.; Hines, Timothy J.; Spaulding, Emily L.; Lupski, James R.; Nesvizhskii, Alexey; Mancias, Pedro; Butler, Ian J.; Yang, Xiang-Lei; Hou, Ya-Ming; Antonellis, Anthony; Harper, Scott Q.; Burgess, Robert W.

Journal of Clinical Investigation. December, 2019, Vol. 129 Issue 12, p5568, 16 p.

Beijer D; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, B-2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, B-2610, Belgium.; Department for Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Marte S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Li JC; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Genetics Program, Graduate School of Biomedical Sciences, Tufts University, Boston, MA 02111, USA.; De Ridder W; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, B-2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, B-2610, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Wilrijk, B-2610, Belgium.; Chen JZ; Department of Neurology, Austin Health, Melbourne, VIC 3084, Australia.; Tadenev ALD; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Miers KE; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Deconinck T; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, B-2610, Belgium.; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, B-2650, Belgium.; Macdonell R; Department of Neurology, Austin Health, Melbourne, VIC 3084, Australia.; Marques W Jr; Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, SP, 14051-140, Brazil.; De Jonghe P; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, B-2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, B-2610, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Wilrijk, B-2610, Belgium.; Pratt SL; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Neuroscience Program, Graduate School of Biomedical Sciences, Tufts University, Boston, MA 02111, USA.; Meyer-Schuman R; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Züchner S; Department for Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Antonellis A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Burgess RW; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Genetics Program, Graduate School of Biomedical Sciences, Tufts University, Boston, MA 02111, USA.; Neuroscience Program, Graduate School of Biomedical Sciences, Tufts University, Boston, MA 02111, USA.; Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, B-2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, B-2610, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Wilrijk, B-2610, Belgium.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Meyer-Schuman R; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Cale AR; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Pierluissi JA; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Jonatzke KE; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Park YN; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Lenk GM; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Oprescu SN; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Grachtchouk MA; Department of Dermatology, University of Michigan, Ann Arbor, MI, USA.; Dlugosz AA; Department of Dermatology, University of Michigan, Ann Arbor, MI, USA.; Rogel Cancer Center, University of Michigan, Ann Arbor, MI, USA.; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI, USA.; Beg AA; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, USA.; Meisler MH; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Department of Neurology, University of Michigan, Ann Arbor, MI, USA.; Antonellis A; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Department of Neurology, University of Michigan, Ann Arbor, MI, USA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Meyer-Schuman, R.; Marte, S.; Antonellis, A.; Smith, T.J.; Koutmou, K.S.; Feely, S.M.E.; Shy, M.E.; Kennerson, M.; Nicholson, G.

In: Human Molecular Genetics. (Human Molecular Genetics, 1 July 2023, 32(13):2177-2191)

Galatolo D; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.; Kuo ME; Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, Michigan.; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, Michigan.; Mullen P; Department of Biochemistry, College of Medicine, University of Vermont, Burlington, Vermont.; Meyer-Schuman R; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan.; Doccini S; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.; Battini R; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.; Lieto M; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.; Tessa A; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.; Filla A; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.; Francklyn C; Department of Biochemistry, College of Medicine, University of Vermont, Burlington, Vermont.; Antonellis A; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, Michigan.; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan.; Santorelli FM; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Meyer-Schuman R; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.; Antonellis A; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.; Department of Neurology, University of Michigan, Ann Arbor, MI, 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

Rips J; Department of Pediatrics, Hadassah Ein-Kerem Medical Center, Jerusalem, Israel.; Meyer-Schuman R; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, United States.; Breuer O; Pediatric Pulmonology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.; Tsabari R; Pediatric Pulmonology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.; Shaag A; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.; Revel-Vilk S; Pediatric Hematology, Shaare Zedek Medical Center, Hebrew University, Jerusalem, Israel.; Reif S; Department of Pediatrics, Hadassah Ein-Kerem Medical Center, Jerusalem, Israel.; Elpeleg O; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Electronic address: elpeleg@hadassah.org.il.; Antonellis A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, United States; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI, United States.; Harel T; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Electronic address: tamarhe@hadassah.org.il.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Lee DC; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Meyer-Schuman R; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.; Bacon C; Department of Neurology, The University of Iowa, Iowa City, Iowa.; Shy ME; Department of Neurology, The University of Iowa, Iowa City, Iowa.; Antonellis A; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.; Scherer SS; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE