부산대학교 도서관

Husain RA; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany.; Jiao X; Department of Cell Biology and Neuroscience, Rutgers University, Piscataway, NJ 08854, USA.; Hennings JC; Institute of Human Genetics, Jena University Hospital, 07747 Jena, Germany.; Giesecke J; Department of Anaesthesiology and Intensive Care Medicine, Jena University Hospital, Member of the Leibniz Center for Photonics in Infection Research (LPI), 07747 Jena, Germany.; Palsule G; Department of Cell Biology and Neuroscience, Rutgers University, Piscataway, NJ 08854, USA.; Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Osmanović D; Institute of Human Genetics, Jena University Hospital, 07747 Jena, Germany.; Bjørgo K; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway.; Mir A; Department of Biological Sciences, Faculty of Sciences, International Islamic University, Islamabad 44000, Pakistan.; Ilyas M; Department of Biological Sciences, Faculty of Sciences, International Islamic University, Islamabad 44000, Pakistan.; Abbasi SM; Department of Biological Sciences, Faculty of Sciences, International Islamic University, Islamabad 44000, Pakistan.; Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Rankin J; Department of Clinical Genetics, Royal Devon University Hospital, Exeter, EX1 2ED, UK.; Pagnamenta AT; Oxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, Oxford, OX3 7BN, UK.; Nashabat M; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.; Altwaijri W; Department of Pediatrics, Neurology Division, King Abdullah Specialist Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.; Alfadhel M; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.; Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.; Khouj E; Department of Translational Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Reardon W; Blackrock Clinic, Dublin, A94 E4X7, Ireland.; El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, 27272, Sharjah, United Arab Emirates.; Department of Pediatrics, University Hospital Sharjah, 72772, Sharjah, United Arab Emirates.; Mekki M; Department of Pediatrics, University Hospital Sharjah, 72772, Sharjah, United Arab Emirates.; Houge G; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.; Beetz C; Centogene GmbH, 18055 Rostock, Germany.; Bauer P; Centogene GmbH, 18055 Rostock, Germany.; Putoux A; Groupement Hospitalier Est, Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, 69677 Bron Cedex, France.; Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, Univ Lyon, Univ Lyon 1, INSERM U1028 CNRS UMR5292, 69008 Lyon, France.; Lesca G; Groupement Hospitalier Est, Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, 69677 Bron Cedex, France.; Physiopathologie et Génétique du Neurone et du Muscle, Univ Lyon, Univ Lyon 1, CNRS, INSERM, UMR5261, U1315, Institut NeuroMyoGène, 69008 Lyon, France.; Sanlaville D; Groupement Hospitalier Est, Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, 69677 Bron Cedex, France.; Physiopathologie et Génétique du Neurone et du Muscle, Univ Lyon, Univ Lyon 1, CNRS, INSERM, UMR5261, U1315, Institut NeuroMyoGène, 69008 Lyon, France.; Alkuraya FS; Department of Translational Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Mentzel HJ; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany.; Section of Pediatric Radiology, Department of Radiology, Jena University Hospital, 07747 Jena, Germany.; Hübner CA; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany.; Institute of Human Genetics, Jena University Hospital, 07747 Jena, Germany.; Huppke P; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany.; Hart RP; Department of Cell Biology and Neuroscience, Rutgers University, Piscataway, NJ 08854, USA.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Kiledjian M; Department of Cell Biology and Neuroscience, Rutgers University, Piscataway, NJ 08854, USA.; Rubio I; Department of Anaesthesiology and Intensive Care Medicine, Jena University Hospital, Member of the Leibniz Center for Photonics in Infection Research (LPI), 07747 Jena, Germany.; Center for Sepsis Control and Care, 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

Husain, Ralf A.; Jiao, Xinfu; Hennings, J. Christopher; Giesecke, Jan; Palsule, Geeta; Beck-Woedl, Stefanie; Osmanovic, Dina; Bjorgo, Kathrine; Mir, Asif; Ilyas, Muhammad; Abbasi, Saad M.; Efthymiou, Stephanie; Dominik, Natalia; Maroofian, Reza; Houlden, Henry; Rankin, Julia; Pagnamenta, Alistair T.; Nashabat, Marwan; Altwaijri, Waleed; Alfadhel, Majid; Umair, Muhammad; Khouj, Ebtissal; Reardon, William; El-Hattab, Ayman W.; Mekki, Mohammed; Houge, Gunnar; Beetz, Christian; Bauer, Peter; Putoux, Audrey; Lesca, Gaetan; Sanlaville, Damien; Alkuraya, Fowzan S.; Taylor, Robert W.; Mentzel, Hans-Joachim; Huebner, Christian A.; Huppke, Peter; Hart, Ronald P.; Haack, Tobias B.; Kiledjian, Megerditch; Rubio, Ignacio

BRAIN; DEC 23 2023, 9p.

S. C. Grünert; A. Schumann; P. Freisinger; S. Rosenbaum-Fabian; M. Schmidts; A. J. Mueller; S. Beck-Wödl; T. B. Haack; H. Schneider; H. Fuchs; U. Teufel; G. Gramer; L. Hannibal; U. Spiekerkoetter

BMC Pediatrics, Vol 20, Iss 1, Pp 1-7 (2020)

Kern J; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany.; Böhringer J; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany.; Timmann D; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany.; Trollmann R; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany.; Stendel C; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany.; Kamm C; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany.; Röbl M; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany.; Santhanakumaran V; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany.; Groeschel S; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany.; Beck-Wödl S; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany.; Göricke S; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany.; Krägeloh-Mann I; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany.; Synofzik M; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany.

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

Oppermann, Henry; Marcos-Graneda, Elia; Weiss, Linnea A.; Gurnett, Christina A.; Jelsig, Anne Marie; Vineke, Susanne H.; Isidor, Bertrand; Mercier, Sandra; Magnussen, Kari; Zacher, Pia; Hashim, Mona; Pagnamenta, Alistair T.; Race, Simone; Srivastava, Siddharth; Frazier, Zoe; Maiwald, Robert; Pergande, Matthias; Milani, Donatella; Rinelli, Martina; Levy, Jonathan; Krey, Ilona; Fontana, Paolo; Lonardo, Fortunato; Riley, Stephanie; Kretzer, Jasmine; Rankin, Julia; Reis, Linda M.; Semina, Elena V.; Reuter, Miriam S.; Scherer, Stephen W.; Iascone, Maria; Weis, Denisa; Fagerberg, Christina R.; Brasch-Andersen, Charlotte; Hansen, Lars Kjaersgaard; Kuechler, Alma; Noble, Nathan; Gardham, Alice; Tenney, Jessica; Rathore, Geetanjali; Beck-Woedl, Stefanie; Haack, Tobias B.; Pavlidou, Despoina C.; Atallah, Isis; Vodopiutz, Julia; Janecke, Andreas R.; Hsieh, Tzung-Chien; Lesmann, Hellen; Klinkhammer, Hannah; Krawitz, Peter M.; Lemke, Johannes R.; Abou Jamra, Rami; Nieto, Marta; Tumer, Zeynep; Platzer, Konrad

EUROPEAN JOURNAL OF HUMAN GENETICS; AUG 30 2023, 10p.

Grünert, S. C.; Schumann, A.; Freisinger, P.; Rosenbaum-Fabian, S.; Schmidts, M.; Mueller, A. J.; Beck-Wödl, S.; Haack, T. B.; Schneider, H.; Fuchs, H.; Teufel, U.; Gramer, G.; Hannibal, L.; Spiekerkoetter, U.

BMC Pediatrics. 20(1)

van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Wödl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hülya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; López-González, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.

Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(6):1295-1307

Laugwitz, L.; Groeschel, S.; Beck-Woedl, S.; Schoenmakers, D.H.; Wolf, N.I.; Adang, L.A.; Bergner, C.; Bernard, G.; Bley, A.; Boyer, A.; Saunier-Vivar, E.; Calbi, V.; Fumagalli, F.; Dekker, H.; Eichler, F.; Eklund, E.; Gavazzi, F.; Grønborg, S.W.; van Hasselt, P.; Langeveld, M.; Lindemans, C.; Mochel, F.; Oberg, A.; Ram, D.; Schöls, L.; Scholz, M.; Sevin, C.; Zerem, A.

In: European Journal of Paediatric Neurology. (European Journal of Paediatric Neurology, March 2024, 49:141-154)

Roos A; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, K1H 8L1, Canada.; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.; van der Ven PFM; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.; Alrohaif H; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; Kuwait Medical Genetics Center, Sabah Hospital, Kuwait City, Kuwait.; Kölbel H; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Heil L; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.; Della Marina A; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Aßent M; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.; Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Barresi R; San Camillo IRCCS, 30126 Venezia - Lido, Italy.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; O'Connor K; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, K1H 8L1, Canada.; Sickmann A; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.; Kohlschmidt N; Institute of Clinical Genetics and Tumour Genetics, 53111 Bonn, Germany.; El Gizouli M; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Meyer N; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Daya N; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.; Grande V; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.; Bois K; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Vorgerd M; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.; Schröder C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Schara-Schmidt U; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Gangfuss A; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Evangelista T; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, 75013 Paris, France.; Röbisch L; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.; Hentschel A; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.; Grüneboom A; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.; Fuerst DO; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Tzschach A; Medical Center, Faculty of Medicine, Institute of Human Genetics, University of Freiburg, 79106 Freiburg, Germany.; Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Lochmüller H; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, K1H 8L1, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, K1H 8L1, Canada.

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

van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Wödl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hülya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; López-González, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.

Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(9):2160-2161