부산대학교 도서관

Krause, Matthias; Gräfe, Daniel; Metzger, Roman; Griessenauer, Christoph J.; Gburek-Augustat, Janina

Child's Nervous System. 41(1)

Krause, Matthias; Leibnitz, Florian; Knüpfer, Matthias Manfred; Merkenschlager, Andreas; Griessenauer, Christoph J.; Gburek-Augustat, Janina

Child's Nervous System. 41(1)

Matthias Krause; Janina Gburek‐Augustat; Daniel Gräfe; Roman Metzger; Marco Ginzel; Christoph J. Griessenauer; Lukas Grassner; Daniel Weghuber; Johann Gradl; Daniela Auer; Tanja Schally; Stefan Rund; Carina Kals; Christina Folie; Elisabeth Bayer; Mario Gimona; Eva Rohde

J Extracell Vesicles
Journal of Extracellular Vesicles, Vol 14, Iss 6, Pp n/a-n/a (2025)

Monica H. Wojcik; Gabrielle Lemire; Eva Berger; Maha S. Zaki; Mariel Wissmann; Wathone Win; Susan M. White; Ben Weisburd; Dagmar Wieczorek; Leigh B. Waddell; Jeffrey M. Verboon; Grace E. VanNoy; Ana Töpf; Tiong Yang Tan; Steffen Syrbe; Vincent Strehlow; Volker Straub; Sarah L. Stenton; Hana Snow; Moriel Singer-Berk; Josh Silver; Shirlee Shril; Eleanor G. Seaby; Ronen Schneider; Vijay G. Sankaran; Alba Sanchis-Juan; Kathryn A. Russell; Karit Reinson; Gianina Ravenscroft; Maximilian Radtke; Denny Popp; Tilman Polster; Konrad Platzer; Eric A. Pierce; Emily M. Place; Sander Pajusalu; Lynn Pais; Katrin Õunap; Ikeoluwa Osei-Owusu; Henry Opperman; Volkan Okur; Kaisa Teele Oja; Melanie O’Leary; Emily O’Heir; Chantal F. Morel; Andreas Merkenschlager; Rhett G. Marchant; Brian E. Mangilog; Jill A. Madden; Daniel MacArthur; Alysia Lovgren; Jordan P. Lerner-Ellis; Jasmine Lin; Nigel Laing; Friedhelm Hildebrandt; Julia Hentschel; Emily Groopman; Julia Goodrich; Joseph G. Gleeson; Roula Ghaoui; Casie A. Genetti; Janina Gburek-Augustat; Hanna T. Gazda; Vijay S. Ganesh; Mythily Ganapathi; Lyndon Gallacher; Jack M. Fu; Emily Evangelista; Eleina England; Sandra Donkervoort; Stephanie DiTroia; Sandra T. Cooper; Wendy K. Chung; John Christodoulou; Katherine R. Chao; Liam D. Cato; Kinga M. Bujakowska; Samantha J. Bryen; Harrison Brand; Carsten G. Bönnemann; Alan H. Beggs; Samantha M. Baxter; Tobias Bartolomaeus; Pankaj B. Agrawal; Michael Talkowski; Christina Austin-Tse; Rami Abou Jamra; Heidi L. Rehm; Anne O’Donnell-Luria

New England Journal of Medicine. 390:1985-1997

Gburek-Augustat J; Department of Pediatric Neurology, University Hospital for Children, Leipzig, Germany.; Lee IC; Department of Pediatrics, Taichung Tzu chi General Hospital, Taichung, Taiwan.; Rubino M; Department of Neuroscience, Reproductive Sciences and Odontostomatology, Federico II University of Naples, Naples, Italy.; Topçu V; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Chavez-Castillo M; Pediatric Epilepsy Clinic-Hospital Civil de Guadalajara, Guadalajara, Mexico.; Tu SC; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington, University School of Medicine, St. Louis, Missouri, USA.; Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington, University School of Medicine, St. Louis, Missouri, USA.; Alfradique-Dunham I; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Valtcheva M; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Adarmes-Gómez A; Unidad de Trastornos del Movimiento, Servicio de Neurología, Instituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen Del Rocío/Universidad de Sevilla, Sevilla, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.; Macias-Garcia D; Unidad de Trastornos del Movimiento, Servicio de Neurología, Instituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen Del Rocío/Universidad de Sevilla, Sevilla, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.; Laura Muñoz-Delgado L; Unidad de Trastornos del Movimiento, Servicio de Neurología, Instituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen Del Rocío/Universidad de Sevilla, Sevilla, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.; Jesús S; Unidad de Trastornos del Movimiento, Servicio de Neurología, Instituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen Del Rocío/Universidad de Sevilla, Sevilla, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.; Departamento de Medicina, Facultad de Medicina, Universidad de Sevilla, Sevilla, Spain.; Mir P; Unidad de Trastornos del Movimiento, Servicio de Neurología, Instituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen Del Rocío/Universidad de Sevilla, Sevilla, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.; Departamento de Medicina, Facultad de Medicina, Universidad de Sevilla, Sevilla, Spain.; Merkenschlager A; Department of Pediatric Neurology, University Hospital for Children, Leipzig, Germany.; Coppola A; Epilepsy Center, University Hospital Federico II, Naples, Italy.

Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE

De Falco, Alessandro ; De Dominicis, Angela ; Trivisano, Marina ; Specchio, Nicola ; Digilio, Maria Cristina ; Piscopo, Carmelo ; Capra, Valeria ; Scala, Marcello ; Iacomino, Michele ; Accogli, Andrea ; Romano, Ferruccio ; Salpietro, Vincenzo ; Mancardi, Margherita ; Striano, Pasquale ; Operto, Francesca Felicia ; Gburek-Augustat, Janina ; Perrin, Laurence ; Capri, Yline ; Lupo, Viviana ; Elia, Maurizio ; Manti, Filippo ; Pisani, Francesco ; Brunetti-Pierri, Nicola ; Terrone, Gaetano

In European Journal of Paediatric Neurology January 2025 54:8-17

Rohde, E.; Krause, M.; Gburek-Augustat, J.; Graefe, D.; Metzger, R.; Ginzel, M.; Griessenauer, C.; Grassner, L.; Weghuber, D.; Gradl, J.; Auer, D.; Schally, T.; Rund, S.; Kals, C.; Folie, C.; Bayer, E.; Gimona, M.

Cytotherapy. 27(5):S28-S29

J. Gburek-Augustat; I. Sorge; M. Stange; J. Kern; A. Merkenschlager; T. Nägele; I. Krägeloh-Mann

American Journal of Neuroradiology. 44:1090-1095

J. Lemke; K. Platzer; E. Berger; B. Bresack; L. Kulosik; C. Stockhaus; D. Wieczorek; S. Syrbe; V. Strehlow; M. Radtke; D. Popp; T. Polster; H. Oppermann; A. Merkenschlager; J. Hentschel; J. Gburek-Augustat; T. Bartolomaeus; R. Abou Jamra

Neuropediatrics. 55

Heba Morsy; Mehdi Benkirane; Elisa Cali; Clarissa Rocca; Kristina Zhelcheska; Valentina Cipriani; Evangelia Galanaki; Reza Maroofian; Stephanie Efthymiou; David Murphy; Mary O’Driscoll; Mohnish Suri; Siddharth Banka; Jill Clayton-Smith; Thomas Wright; Melody Redman; Jennifer A. Bassetti; Mathilde Nizon; Benjamin Cogne; Rami Abu Jamra; Tobias Bartolomaeus; Marion Heruth; Ilona Krey; Janina Gburek-Augustat; Dagmar Wieczorek; Felix Gattermann; Meriel Mcentagart; Alice Goldenberg; Lucie Guyant-Marechal; Hector Garcia-Moreno; Paola Giunti; Brigitte Chabrol; Severine Bacrot; Roger Buissonnière; Virginie Magry; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; Béla Melegh; András Szabó; Katalin Sümegi; Mireille Cossée; Monica Ziff; Russell Butterfield; David Hunt; Georgina Bird-Lieberman; Michael Hanna; Michel Koenig; Michael Stankewich; Jana Vandrovcova; Henry Houlden; J.C. Ambrose; P. Arumugam; E.L. Baple; M. Bleda; F. Boardman-Pretty; J.M. Boissiere; C.R. Boustred; H. Brittain; M.J. Caulfield; G.C. Chan; C.E.H. Craig; L.C. Daugherty; A. de Burca; A. Devereau; G. Elgar; R.E. Foulger; T. Fowler; P. Furió-Tarí; J.M. Hackett; D. Halai; A. Hamblin; S. Henderson; J.E. Holman; T.J.P. Hubbard; K. Ibáñez; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; L. Lahnstein; K. Lawson; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; J. Mason; E.M. McDonagh; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; C.A. Odhams; C. Patch; D. Perez-Gil; D. Polychronopoulos; J. Pullinger; T. Rahim; A. Rendon; P. Riesgo-Ferreiro; T. Rogers; M. Ryten; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; D. Smedley; K.R. Smith; A. Sosinsky; W. Spooner; H.E. Stevens; A. Stuckey; R. Sultana; E.R.A. Thomas; S.R. Thompson; C. Tregidgo; A. Tucci; E. Walsh; S.A. Watters; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki

Genet Med
Queen Square Genomics, Genomics England Research Consortium, Morsy, H, Benkirane, M, Cali, E, Rocca, C, Zhelcheska, K, Cipriani, V, Galanaki, E, Maroofian, R, Efthymiou, S, O'Driscoll, M, Suri, M, Banka, S, Clayton-Smith, J, Redman, M, Bassetti, J A, Nizon, M, Cogne, B, Jamra, R A, Bartolomaeus, T, Heruth, M, Krey, I, Gburek-Augustat, J, Wieczorek, D, Gattermann, F, Mcentagart, M, Goldenberg, A, Guyant-Marechal, L, Garcia-Moreno, H, Giunti, P, Chabrol, B, Bacrot, S, Buissonnière, R, Magry, V, Gowda, V K, Srinivasan, V M, Melegh, B, Szabó, A, Sümegi, K, Cossée, M, Ziff, M, Butterfield, R, Hunt, D, Bird-Lieberman, G, Hanna, M, Koenig, M, Stankewich, M, Vandrovcova, J & Houlden, H 2023, 'Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 1, pp. 76-89. https://doi.org/10.1016/j.gim.2022.09.013

Félixe Pelletier; Stefanie Perrier; Ferdy K Cayami; Amytice Mirchi; Stephan Saikali; Luan T Tran; Nicole Ulrick; Kether Guerrero; Emmanouil Rampakakis; Rosalina M L van Spaendonk; Sakkubai Naidu; Daniela Pohl; William T Gibson; Michelle Demos; Cyril Goizet; Ingrid Tejera-Martin; Ana Potic; Brent L Fogel; Bernard Brais; Michel Sylvain; Guillaume Sébire; Charles Marques Lourenço; Joshua L Bonkowsky; Coriene Catsman-Berrevoets; Pedro S Pinto; Sandya Tirupathi; Petter Strømme; Ton de Grauw; Dorota Gieruszczak-Bialek; Ingeborg Krägeloh-Mann; Hanna Mierzewska; Heike Philippi; Julia Rankin; Tahir Atik; Brenda Banwell; William S Benko; Astrid Blaschek; Annette Bley; Eugen Boltshauser; Drago Bratkovic; Klara Brozova; Icíar Cimas; Christopher Clough; Bernard Corenblum; Argirios Dinopoulos; Gail Dolan; Flavio Faletra; Raymond Fernandez; Janice Fletcher; Maria Eugenia Garcia Garcia; Paolo Gasparini; Janina Gburek-Augustat; Dolores Gonzalez Moron; Aline Hamati; Inga Harting; Christoph Hertzberg; Alan Hill; Grace M Hobson; A Micheil Innes; Marcelo Kauffman; Susan M Kirwin; Gerhard Kluger; Petra Kolditz; Urania Kotzaeridou; Roberta La Piana; Eriskay Liston; William McClintock; Meriel McEntagart; Fiona McKenzie; Serge Melançon; Anjum Misbahuddin; Mohnish Suri; Fernando I Monton; Sebastien Moutton; Raymond P J Murphy; Miriam Nickel; Hüseyin Onay; Simona Orcesi; Ferda Özkınay; Steffi Patzer; Helio Pedro; Sandra Pekic; Mercedes Pineda Marfa; Amy Pizzino; Barbara Plecko; Bwee Tien Poll-The; Vera Popovic; Dietz Rating; Marie-France Rioux; Norberto Rodriguez Espinosa; Anne Ronan; John R Ostergaard; Elsa Rossignol; Rocio Sanchez-Carpintero; Anna Schossig; Nesrin Senbil; Laura K Sønderberg Roos; Cathy A Stevens; Matthis Synofzik; László Sztriha; Daniel Tibussek; Dagmar Timmann; Davide Tonduti; Bart P van de Warrenburg; Maria Vázquez-López; Sunita Venkateswaran; Pontus Wasling; Evangeline Wassmer; Richard I Webster; Gert Wiegand; Grace Yoon; Joost Rotteveel; Raphael Schiffmann; Marjo S van der Knaap; Adeline Vanderver; Gabriel Á Martos-Moreno; Constantin Polychronakos; Nicole I Wolf; Geneviève Bernard

J Clin Endocrinol Metab
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sébire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M S, Vanderver, A, Martos-Moreno, G, Polychronakos, C, Wolf, N I & Bernard, G 2021, 'Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674. https://doi.org/10.1210/clinem/dgaa700
The journal of clinical endocrinology & metabolism 106(2), e660-e674 (2021). doi:10.1210/clinem/dgaa700
Journal of Clinical Endocrinology and Metabolism, 106, 2, pp. e660-e674
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Chiara Klöckner; J Pedro Fernández-Murray; Mahtab Tavasoli; Heinrich Sticht; Gisela Stoltenburg-Didinger; Leila Motlagh Scholle; Somayeh Bakhtiari; Michael C Kruer; Hossein Darvish; Saghar Ghasemi Firouzabadi; Alex Pagnozzi; Anju Shukla; Katta Mohan Girisha; Dhanya Lakshmi Narayanan; Parneet Kaur; Reza Maroofian; Maha S Zaki; Mahmoud M Noureldeen; Andreas Merkenschlager; Janina Gburek-Augustat; Elisa Cali; Selina Banu; Kamrun Nahar; Stephanie Efthymiou; Henry Houlden; Rami Abou Jamra; Jason Williams; Christopher R McMaster; Konrad Platzer

Brain. 145:1916-1923

Zarate, Yuri A.; Uehara, Tomoko; Abe, Kota; Oginuma, Masayuki; Harako, Sora; Ishitani, Shizuka; Lehesjoki, Anna-Elina; Bierhals, Tatjana; Kloth, Katja; Ehmke, Nadja; Horn, Denise; Holtgrewe, Manuel; Anderson, Katherine; Viskochil, David; Edgar-Zarate, Courtney L.; Sacoto, Maria J. Guillen; Schnur, Rhonda E.; Morrow, Michelle M.; Sanchez-Valle, Amarilis; Pappas, John; Rabin, Rachel; Muona, Mikko; Anttonen, Anna-Kaisa; Platzer, Konrad; Luppe, Johannes; Gburek-Augustat, Janina; Kaname, Tadashi; Okamoto, Nobuhiko; Mizuno, Seiji; Kaido, Yusaku; Ohkuma, Yoshiaki; Hirose, Yutaka; Ishitani, Tohru; Kosaki, Kenjiro

Genetics in Medicine. 23:1050-1057

Willim J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Woike D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Greene D; Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Das S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Pfeifer K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Yuan W; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Lindsey A; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Itani O; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Böhme AL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Tibbe D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hönck HH; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hassani Nia F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Zech M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.; Brunet T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Sorlin A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Vitobello A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Smol T; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Colson C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Baranano K; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Schatz K; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department for Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Spillmann R; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Conboy E; Indiana University School of Medicine, Indianapolis, IN, USA.; Vetrini F; Indiana University School of Medicine, Indianapolis, IN, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University of Leipzig Medical Center, Leipzig, Germany.; Grace AN; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.; Mitchell B; Baylor College of Medicine in San Antonio, San Antonio, TX, USA.; Stegmann A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Meeks N; Children's Hospital Colorado, Division of Clinical Genetics & Metabolism, Aurora, CO, USA.; Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO, USA.; Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Van-Gils J; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; de Sainte-Agathe JM; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Bebin EM; University of Alabama at Birmingham, Birmingham, AL, USA.; Weisz-Hubshman M; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, Tx, USA.; Tabet AC; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Harder S; Mass spectrometry and Proteome Analytics, Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Silverman GA; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Pak SC; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.; Mumford A; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.; Turro E; Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Schlein C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Kreienkamp@uke.de.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Manssen L; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University Munich, Munich, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Gburek-Augustat J; Division of Neuropediatrics, Hospital for Children and Adolescents, Department of Women and Child Health, University of Leipzig, Leipzig, Germany.; von Hagen C; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University Munich, Munich, Germany.; Kinderzentrum Munchen gemeinnutzige GmbH, kbo, Munich, Germany.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Merkenschlager A; Division of Neuropediatrics, Hospital for Children and Adolescents, Department of Women and Child Health, University of Leipzig, Leipzig, Germany.; Weigand H; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University Munich, Munich, Germany.; Makowski C; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University Munich, Munich, Germany.

Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE

M. Stange; S. Illsinger; J. Gburek-Augustat; H. Hartmann

Neuropediatrics. 48:S1-S45

S. Illsinger; P. Dabke; M. Chao; C. Kratz; M. Stange; J. Gburek-Augustat; H. Hartmann; A. Das

Neuropediatrics. 48:S1-S45

Lang, N. ; Esser, W. ; Evers, S. ; Kellinghaus, C. ; Nguento, A. ; Schlegel, U. ; Gaida, B. ; Gburek-Augustat, J. ; Altenmüller, D.M. ; Burghaus, L. ; Hoffmann, F. ; Fiedler, B. ; Bast, T. ; Rehfeld, T. ; Happe, S. ; Seitz, R.J. ; Boor, R. ; Stephani, U.

In Seizure: European Journal of Epilepsy July 2015 29:109-113

Moch J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Radtke M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University of Leipzig Medical Center, Leipzig, Germany.; Karnstedt M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Schönnagel S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Drukewitz SH; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Pilgram L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Schumann I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Traschütz A; Research Division 'Translational Genomics of Neurodegenerative Diseases,' Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Adarmes-Gómez AD; Movement Disorders Unit, Department of Neurology and Clinical Neurophysiology, Institute of Biomedicine of Seville, Virgen del Rocío University Hospital/CSIC/University of Seville, Seville, Spain.; Center for Biomedical Research Network on Neurodegenerative Diseases, Madrid, Spain.; Anheim M; Department of Neurology, Hautepierre Hospital, University Hospitals of Strasbourg, Strasbourg, France.; Federation of Translational Medicine of Strasbourg, University of Strasbourg, Strasbourg, France.; Institute of Genetics and Molecular and Cellular Biology, INSERM-U964/CNRS-UMR7104/University of Strasbourg, Illkirch, France.; Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Brais B; Department of Neurology, McGill University, Montreal Neurological Institute, Montreal, Quebec, Canada.; Gagnon C; CHUS Research Center and Health and Social Services Center of Saguenay-Lac-Saint-Jean, Faculty of Medicine, University of Sherbrooke, Quebec, Quebec, Canada.; Gburek-Augustat J; Division of Neuropediatrics, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.; Doss S; Department of Neurology, Charité-Universitätsmedizin Berlin, corporate member of Free University of Berlin, Humboldt University of Berlin, Berlin, Germany.; Department of Neurological Sciences, University of Nebraska Medical Center, Omaha, NE, USA.; Hanağası HA; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Kamm C; Department of Neurology, University of Rostock, Rostock, Germany.; Klivenyi P; Interdisciplinary Excellence Center, Department of Neurology, Faculty of Medicine, Albert Szent-Györgyi Clinical Center, University of Szeged, Szeged, Hungary.; Klockgether T; Department of Neurology, University Hospital Bonn, Bonn, Germany.; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Klopstock T; Department of Neurology, Friedrich Baur Institute, Ludwig Maximilian University of Munich, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology, Munich, Germany.; Minnerop M; Institute of Neuroscience and Medicine, Research Center Jülich, Jülich, Germany.; Department of Neurology, Center for Movement Disorders and Neuromodulation, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Münchau A; Institute of Systems Motor Science, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Renaud M; Clinical Genetics Service, CHRU of Nancy, Nancy, France.; INSERM-U1256 NGERE, University of Lorraine, Nancy, France.; Santorelli FM; IRCCS Foundation Stella Maris, Pisa, Italy.; Schöls L; Research Division 'Translational Genomics of Neurodegenerative Diseases,' Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Thieme A; Department of Neurology and Center for Translational Neuro and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen, Essen, Germany.; Vielhaber S; Department of Neurology, Otto von Guericke University, Magdeburg, Germany.; German Center for Neurodegenerative Diseases (DZNE), Magdeburg, Germany.; Center for Behavioral Brain Sciences, Otto von Guericke University Magdeburg, Magdeburg, Germany.; van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Childrens' Hospital, IRCCS, Rome, Italy.; Hilgers RD; Department of Medical Statistics, RWTH Aachen University, Aachen, Germany.; Synofzik M; Research Division 'Translational Genomics of Neurodegenerative Diseases,' Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE