학술논문
'학술논문'
에서 검색결과 166건 | 목록
1~10
Academic Journal
Chiplunkar, Shwetha; Bindu, Parayil Sankaran; Nagappa, Madhu; Bineesh, Cheminikara; Govindaraj, Periyasamy; Gayathri, Narayanappa; Bharath, M. M. Srinivas; Arvinda, Hanumanthapura R.; Mathuranath, Pavagada S.; Sinha, Sanjib; Taly, Arun B.
Metabolic Brain Disease. October 2016 31(5):1195-1198
Academic Journal
Whittam, D. H.; Karthikeayan, V.; Gibbons, E.; Kneen, R.; Chandratre, S.; Ciccarelli, O.; Hacohen, Y.; de Seze, J.; Deiva, K.; Hintzen, R. Q.; Wildemann, B.; Jarius, S.; Kleiter, I.; Rostasy, K.; Huppke, P.; Hemmer, B.; Paul, F.; Aktas, O.; Pröbstel, A. K.; Arrambide, G.; Tintore, M.; Amato, M. P.; Nosadini, M.; Mancardi, M. M.; Capobianco, M.; Illes, Z.; Siva, A.; Altintas, A.; Akman-Demir, G.; Pandit, L.; Apiwattankul, M.; Hor, J. Y.; Viswanathan, S.; Qiu, W.; Kim, H. J.; Nakashima, I.; Fujihara, K.; Ramanathan, S.; Dale, R. C.; Boggild, M.; Broadley, S.; Lana-Peixoto, M. A.; Sato, D. K.; Tenembaum, S.; Cabre, P.; Wingerchuk, D. M.; Weinshenker, B. G.; Greenberg, B.; Matiello, M.; Klawiter, E. C.; Bennett, J. L.; Wallach, A. I.; Kister, I.; Banwell, B. L.; Traboulsee, A.; Pohl, D.; Palace, J.; Leite, M. I.; Levy, M.; Marignier, R.; Solomon, T.; Lim, M.; Huda, S.; Jacob, A.
Journal of Neurology. 267(12):3565-3577
Academic Journal
Kraus, V.; Dornfeld, E.; Elpers, C.; Lohmann, H.; Weddige, A.; Hagspiel, S.; Kirschner, J.; Brehm, M.; Blank, C.; Schubert, J.; Schimmel, M.; Pacheè, S.; Mohrbach, M.; Karenfort, M.; Kamp, G.; Lücke, T.; Neumann, H.; Lutz, S.; Gierse, A.; Sievers, S.; Schiffmann, H.; de Soye, I.; Trollmann, R.; Candova, A.; Rosner, M.; Neu, A.; Romer, G.; Seidel, U.; John, R.; Hofmann, C.; Schulz; Kinder, S.; Bertolatus, A.; Scheidtmann, K.; Lasogga, R.; Leiz, S.; Alber, M.; Kranz, J.; Bajer-Kornek, B.; Seidl, R.; Novak, A.; Storm van's Gravesande, K.; Calabrese, P.; Blaschek, A.; Rostásy, K.; Huppke, P.; Rothe, L.; Mall, V.; Kessler, J.; Kalbe, E.
In European Journal of Paediatric Neurology November 2019 23(6):792-800
Academic Journal
Huppke B; From the Department of Pediatric Neurology (B.H.), University Hospital Jena; Department of Pediatrics and Adolescent Medicine (M.-C.R., H.H.-A., W.S., J.G.), Pediatric Neurology, University Medical Center Göttingen, Georg August University Göttingen; and Department of Neuropediatrics (P.H.), University Hospital Jena, Germany. brenda.huppke@med.uni-jena.de.; Reinert MC; From the Department of Pediatric Neurology (B.H.), University Hospital Jena; Department of Pediatrics and Adolescent Medicine (M.-C.R., H.H.-A., W.S., J.G.), Pediatric Neurology, University Medical Center Göttingen, Georg August University Göttingen; and Department of Neuropediatrics (P.H.), University Hospital Jena, Germany.; Hummel-Abmeier H; From the Department of Pediatric Neurology (B.H.), University Hospital Jena; Department of Pediatrics and Adolescent Medicine (M.-C.R., H.H.-A., W.S., J.G.), Pediatric Neurology, University Medical Center Göttingen, Georg August University Göttingen; and Department of Neuropediatrics (P.H.), University Hospital Jena, Germany.; Stark W; From the Department of Pediatric Neurology (B.H.), University Hospital Jena; Department of Pediatrics and Adolescent Medicine (M.-C.R., H.H.-A., W.S., J.G.), Pediatric Neurology, University Medical Center Göttingen, Georg August University Göttingen; and Department of Neuropediatrics (P.H.), University Hospital Jena, Germany.; Gärtner J; From the Department of Pediatric Neurology (B.H.), University Hospital Jena; Department of Pediatrics and Adolescent Medicine (M.-C.R., H.H.-A., W.S., J.G.), Pediatric Neurology, University Medical Center Göttingen, Georg August University Göttingen; and Department of Neuropediatrics (P.H.), University Hospital Jena, Germany.; Huppke P; From the Department of Pediatric Neurology (B.H.), University Hospital Jena; Department of Pediatrics and Adolescent Medicine (M.-C.R., H.H.-A., W.S., J.G.), Pediatric Neurology, University Medical Center Göttingen, Georg August University Göttingen; and Department of Neuropediatrics (P.H.), University Hospital Jena, Germany. brenda.huppke@med.uni-jena.de.
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
Academic Journal
Wong KM; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany.; Wegener E; Department of Pediatrics and Adolescent Medicine, Division of Neuropediatrics, Pediatric Neurology University Medical Center Göttingen, Georg August University Göttingen, 37075 Göttingen, Germany.; Baradaran-Heravi A; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver BC V6T 1Z3, Canada.; Huppke B; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany.; Gärtner J; Department of Pediatrics and Adolescent Medicine, Division of Neuropediatrics, Pediatric Neurology University Medical Center Göttingen, Georg August University Göttingen, 37075 Göttingen, Germany.; Huppke P; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Academic Journal
European Journal of Neurology. Mar 01, 2014 21(3):441-446
Academic Journal
Peña‐Quintana, L.; Scherer, G.; Curbelo‐Estévez, M.L.; Jiménez‐Acosta, F.; Hartmann, B.; La Roche, F.; Meavilla‐Olivas, S.; Pérez‐Cerdá, C.; García‐Segarra, N.; Giguère, Y.; Huppke, P.; Mitchell, G.A.; Mönch, E.; Trump, D.; Vianey‐Saban, C.; Trimble, E.R.; Vitoria‐Miñana, I.; Reyes‐Suárez, D.; Ramírez‐Lorenzo, T.; Tugores, A.
Clinical Genetics. Sep 01, 2017 92(3):306-317
Academic Journal
Wong KM; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany.; Jepsen WM; Translational Genomics Research Institute, Neurogenomics Division-Huentelman Lab, Phoenix, AZ 85004, USA.; Efthymiou S; Department of Neuromuscular Disorders, UCL Institute of Neurology, London WC1N 3BG, UK.; Salpietro V; Department of Neuromuscular Disorders, UCL Institute of Neurology, London WC1N 3BG, UK.; Sanchez-Castillo M; Translational Genomics Research Institute, Neurogenomics Division-Huentelman Lab, Phoenix, AZ 85004, USA.; Yip J; Department of Neuromuscular Disorders, UCL Institute of Neurology, London WC1N 3BG, UK.; Kriouile Y; Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children's Hospital, BP 6527 Rabat, Morocco.; Diegmann S; Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, 37075 Goettingen, Germany.; Dreha-Kulaczewski S; Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, 37075 Goettingen, Germany.; Altmüller J; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Core Facility Genomics, Charitéplatz 1, 10117 Berlin, Germany.; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), 10117 Berlin, Germany.; Thiele H; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.; Nürnberg P; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.; Toosi MB; Department of Pediatric Neurology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad 45785, Iran.; Akhondian J; Department of Pediatric Neurology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad 45785, Iran.; Ghayoor Karimiani E; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad 45785, Iran.; Hummel-Abmeier H; Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, 37075 Goettingen, Germany.; Huppke B; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany.; Houlden H; Department of Neuromuscular Disorders, UCL Institute of Neurology, London WC1N 3BG, UK.; Gärtner J; Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, 37075 Goettingen, Germany.; Maroofian R; Department of Neuromuscular Disorders, UCL Institute of Neurology, London WC1N 3BG, UK.; Huppke P; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany.
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
Academic Journal
Gravesande, Karin Storm Van's; Blaschek, Astrid; Calabrese, Pasquale; Rostasy, Kevin; Huppke, Peter; Kessler, Josef J.; Kalbe, Elke; Mall, Volker; Kraus, V; Dornfeld, E.; Elpers, C.; Lohmann, H.; Weddige, A.; Hagspiel, S.; Kirschner, J.; Brehm, M.; Blank, C.; Schubert, J.; Schimmel, M.; Pachee, S.; Mohrbach, M.; Karenfort, M.; Kamp, G.; Luecke, T.; Neumann, H.; Lutz, S.; Gierse, A.; Sievers, S.; Schiffinann, H.; de Soye, I; Trollmann, R.; Candova, A.; Rosner, M.; Neu, A.; Romer, G.; Seidel, U.; John, R.; Hofmann, C.; Schulz; Kinder, S.; Bertolatus, A.; Scheidtmann, K.; Lasogga, R.; Leiz, S.; Alber, M.; Kranz, J.; Bajer-Kornek, B.; Seidl, R.; Novak, A.; MUSICADO Study Grp
Academic Journal
Gravesande, K. Storm Van's; Calabrese, P.; Blaschek, A.; Rostasy, K.; Huppke, P.; Rothe, L.; Mall, V; Kessler, J.; Kalbe, E.; Kraus, V; Dornfeld, E.; Elpers, C.; Lohmann, H.; Weddige, A.; Hagspiel, S.; Kirschner, J.; Brehm, M.; Blank, C.; Schubert, J.; Schimmel, M.; Pachee, S.; Mohrbach, M.; Karenfort, M.; Kamp, G.; Luecke, T.; Neumann, H.; Lutz, S.; Gierse, A.; Sievers, S.; Schiffmann, H.; de Soye, I; Trollmann, R.; Candova, A.; Rosner, M.; Neu, A.; Romer, G.; Seidel, U.; John, R.; Hofmann, C.; Schulz; Kinder, S.; Bertolatus, A.; Scheidtmann, K.; Lasogga, R.; Leiz, S.; Alber, M.; Kranz, J.; Bajer-Kornek, B.; Seidl, R.; Novak, A.; MUSICADO Study Grp
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