부산대학교 도서관

Berkovic, Samuel F.; Neale, Benjamin M.; Zsurka, Gábor; Zizovic, Milena; Zimprich, Fritz; Zara, Federico; Zahnert, Felix; Zagaglia, Sara; Yücesan, Emrah; Yolken, Robert; Yis, Uluc; Yapıcı, Zuhal; Yamakawa, Kazuhiro; Wu, David; von Wrede, Randi; Wong, Isaac; Wolking, Stefan; Wolff, Markus; Wolf, Steven M.; Wiebe, Samuel; Widdess-Walsh, Peter; Weckhuysen, Sarah; Weber, Yvonne G.; Watts, Nick; Wagner, Ryan G.; von Spiczak, Sarah; von Brauchitsch, Sophie; Vlčková, Markéta; Vetro, Annalisa; Vari, Maria Stella; van Baalen, Andreas; Valton, Luc; Vaidiswaran, Priya; Utkus, Algirdas; Uğur-İşeri, Sibel; Turkdogan, Dilsad; Tumiene, Birute; Tsai, Meng-Han; Topaloglu, Pınar; Todaro, Marian; Tinuper, Paolo; Timpson, Nicholas John; Timonen, Oskari; Tanteles, George A.; Taneja, Randip S.; Talkowski, Michael E.; Talarico, Mariagrazia; Suzuki, Toshimitsu; Surges, Rainer; Strzelczyk, Adam; Striano, Pasquale; Stipa, Carlotta; Stewart, William C.; Štěrbová, Katalin; Stephani, Ulrich; Steinhoff, Bernhard J.; Stamberger, Hannah; Sperling, Michael R.; Sparks, Kathryn R.; Spalletta, Gianfranco; Solomonson, Matthew; Smoller, Jordan W.; Sisodiya, Sanjay M.; Sills, Graeme J.; Siena, S. Anthony; Shiedley, Beth R.; Sham, Pak C.; Shain, Catherine; Sedláčková, Lucie; Scudieri, Paolo; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schneider, Natascha; Scheffer, Ingrid E.; Schankin, Christoph J.; Schaller, André; Schachter, Steven; Scala, Marcello; Sammarra, Ilaria; Salpietro, Vincenzo; Salmon, Andrea; Salman, Barış; Sadleir, Lynette G.; Saarela, Anni; Ryvlin, Philippe; Rosenow, Felix; Rojas, Enrique; Riva, Antonella; Ring, Susan M.; Rheims, Sylvain; Reinthaler, Eva; Reif, Andreas; Regan, Brigid M.; Rees, Mark I.; Raynes, Hillary R.; Rau, Sarah; Ramirez-Hamouz, Byron; Ragona, Francesca; Rademacher, Annika; Privitera, Michael; Powell, Robert H. W.; Posthuma, Danielle; Pondrelli, Federica; Poduri, Annapurna; Piras, Federica; Piras, Fabrizio; Pippucci, Tommaso; Pinto, Dalila; Pinsky, Rebecca; Pickrell, William O.; Petrovski, Slavé; Pennell, Page B.; Pendziwiat, Manuela; Pato, Michele; Pato, Carlos; Parrini, Elena; Papacostas, Savvas S.; Palotie, Aarno; Özkara, Çiğdem; Owusu-Agyei, Seth; O’Brien, Terence J.; Novod, Sam; Northstone, Kate; Noebels, Jeffrey L.; Newton, Charles R. J. C.; Neubauer, Bernd A.; Neaves, Samuel; Nasreddine, Wassim; Najm, Imad M.; Müller-Schlüter, Karen; Muhle, Hiltrud; Muccioli, Lorenzo; Mostacci, Barbara; Montomoli, Martino; Minardi, Raffaella; Millichap, John J.; Michel, Véronique; Mei, Davide; Meador, Kimford J.; McQuillan, Andrew; McIntosh, Andrew; McGraw, Christopher M.; McGoldrick, Patricia; McCarroll, Steven M.; McArdle, Wendy; Mayer, Thomas; May, Patrick; Matthews, Abigail G.; Marson, Anthony G.; Marques, Paula; Marcuse, Lara; Maillard, Louis; Magri, Stefania; Madia, Francesca; Madeleyn, Rene; Macedo-Souza, Lucia Inês; Lui, Colin H. T.; Lubbers, Laura; Lowther, Chelsea; Lowenstein, Daniel H.; Lo, Warren; Linnankivi, Tarja; Lin, Kuang-Lin; Lin, Chih-Hsiang; Licchetta, Laura; Liao, Calwing; Li, Gloria Hoi-Yee; Lewis-Smith, David; Lewin, Naomi; Leu, Costin; Lesca, Gaetan; Lerche, Holger; Lemke, Johannes R.; Lehesjoki, Anna-Elina; Leech, Stephanie L.; Lawthom, Charlotte; Lauxmann, Stephan; Laššuthová, Petra; Lal, Dennis; Lacey, Austin; Labate, Angelo; Vega-Talbott, Maite La; Kwan, Patrick; Kuzniecky, Ruben I.; Kurlemann, Gerhard; Kunz, Wolfram S.; Krey, Ilona; Krestel, Heinz; Krenn, Martin; Krause, Roland; Kousiappa, Ioanna; Koupparis, Andreas; Korinthenberg, Rudolf; Korczyn, Amos D.; Kok, Fernando; Knake, Susanne; Kluger, Gerhard; Klein, Karl Martin; King, Chontelle; Khoury, Jean; Khoueiry-Zgheib, Nathalie; Kesim, Yeşim; Kegele, Josua; Kariuki, Symon M.; Kara, Bulent; Kanaan, Moien; Kälviäinen, Reetta; Johnstone, Mandy; Johnson, Michael R.; Jehi, Lara; Ishii, Atsushi; Inuzuka, Luciana Midori; Inoue, Yushi; Iacomino, Michele; Hung, Po-Chen; Hucks, Donald; Howrigan, Daniel P.; Hoeper, Olivia; Ho, Chen-Jui; Hirsch, Edouard; Hirose, Shinichi; Heyne, Henrike; Hengsbach, Christian; Helbig, Ingo; Heinzen, Erin L.; Hegde, Manu; Häusler, Martin; Haryanyan, Garen; Hakonarson, Hakon; Haas, Kevin; Gupta, Namrata; Gundogdu-Eken, Aslı; Guerrini, Renzo; Greenberg, David A.; Grant, Riley; Granata, Tiziana; Goldstein, David B.; Goldman, Alica; Goldberg, Ethan; Glauser, Tracy A.; Gili, Tommaso; Giangregorio, Tania; Gauthier, Laura; Gambardella, Antonio; Gagliardi, Monica; Gabriel, Stacey; Fu, Jack M.; Freri, Elena; French, Jacqueline A.; Franceschetti, Silvana; Fortunato, Francesco; Fonferko-Shadrach, Beata; Fitzgerald, Mark; Fields, Madeline C.; Feucht, Martha; Ferri, Lorenzo; Silva, Izabela Ferreira Da; Ferraro, Thomas N.; Ferguson, Lisa; Feng, Yen-Chen Anne; Faucon, Annika; Evans, Meghan; Epstein, Leon; Ellis, Colin A.; El-Naggar, Hany; Doherty, Colin P.; Doccini, Viola; Dlugos, Dennis J.; Dickerson, Faith; Vito, Lidia Di; Devinsky, Orrin; Derambure, Philippe; Depondt, Chantal; Dennig, Dieter; Delanty, Norman; Jonghe, Peter De; Davis, Lea K.; Daly, Mark J.; Cusick, Caroline; Cotsapas, Chris; Cossette, Patrick; Cosico, Mahgenn; Cole, Andrew J.; Clark, Peggy O.; Ciullo, Valentina; Churchhouse, Claire; Chung, Seo-Kyung; Chou, I-Jun; Cheung, Ching-Lung; Cherny, Stacey S.; Cherian, Christina; Chassoux, Francine; Cerrato, Felecia; Cavalleri, Gianpiero L.; Castellotti, Barbara; Canavati, Christina; Canafoglia, Laura; Caglayan, S. Hande; Busch, Robyn M.; Buono, Russell J.; Brockmann, Knut; Brand, Harrison; Braatz, Vera; Bosselmann, Christian; Borggräfe, Ingo; Blatt, Ilan; Blackwood, Douglas; Bisulli, Francesca; Bianchini, Claudia; Beydoun, Ahmad; Bennett, Caitlin A.; Becker, Felicitas; Bebek, Nerses; Baykan, Betül; Baumgartner, Tobias H.; Baum, Larry W.; Bass, Nick; Bartolomei, Fabrice; Barboza, Karen; Barba, Carmen; Banks, Eric; Balestrini, Simona; Balagura, Ganna; Baker, Mark D.; Bahlo, Melanie; Auce, Pauls; Arslan, Mutluay; Annesi, Grazia; Andrade, Danielle M.; Anderson, Joe; Anderson, Alison; Amadori, Elisabetta; Ali, Quratulain Zulfiqar; Afawi, Zaid; Abou-Khalil, Bassel W.; Chen, Siwei

Nature Neuroscience. 27(10):1864-1879

Uhrova Meszarosova, Anna; Galiart, Elea; Lassuthova, Petra; Kolokotronis, Konstantinos; Seidl, Benjamin; Musilova, Alena; Peckova, Anna; Takacsova, Alena; Vyhnalkova, Emilie; Grecmalova, Dagmar; Vlckova, Eva; Skutilova, Vladana; Steindl, Katharina; Rauch, Anita; Stettner, Georg M.; Safka Brozkova, Dana

FRONTIERS IN MEDICINE; JAN 8 2026, 12 p1704209 12p.

Lauerova, Barbora; Mazanec, Radim; Eggerman, Katja; Brozkova, Dana Safka; Lischka, Annette; Seeman, Pavel; Mikula, Mikulas; Lassuthova, Petra

EUROPEAN JOURNAL OF MEDICAL GENETICS; DEC 2025, 78 p105055 9p.

Cortese, Andrea; Dohrn, Maike F.; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J.; Fernandez-Eulate, Gorka; Haddad, Saif; Laura, Matilde; Rossor, Alexander M.; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N.; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F.; Achenbach, Pascal; Schone, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D.; Winter, Natalie; Creigh, Peter D.; Sowden, Janet E.; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K. L.; Brennan, Kathryn M.; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R.; Kennerson, Marina L.; Kayserili, Hulya; Amado, Defne A.; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J.; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C.; Lee, Yi-Chung; Basak, Ayse N.; Hamed, Sherifa A.; Rojas-Garcia, Ricardo; Claeys, Kristl G.; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N.; Scherer, Steven S.; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan; Inherited Neuropathy Consortium

BRAIN; AUG 26 2025, 11p.

Harkness, J. Robert; Mcdermott, John H.; Marsden, Shea; Jamieson, Peter; Metcalfe, Kay A.; Khan, Naz; Macken, William L.; Pitceathly, Robert D. S.; Record, Christopher J.; Maroofian, Reza; Kleopa, Kleopas; Christodoulou, Kyproula; Sabir, Ataf; Islam, Lily; Santra, Saikat; Durmusalioglu, Enise Avci; Atik, Tahir; Isik, Esra; Cogulu, Ozgur; Urquhart, Jill E.; Beaman, Glenda M.; Demain, Leigh A.; Jackson, Adam; Blakes, Alexander J. M.; Byers, Helen J.; Bennett, Hayley; Lin, Wei-Hsiang; Adamson, Antony; Patel, Sanjai; Yue, Wyatt W.; Taylor, Robert W.; Reunert, Janine; Marquardt, Thorsten; Buchert, Rebecca; Haack, Tobias; Losch, Heike; Ryba, Lukas; Lassuthova, Petra; Valkovicova, Radka; Haberlova, Jana; Lauerova, Barbora; Trusikova, Eva; Polavarapu, Kiran; Kilicarslan, Ozge Aksel; Lochmuller, Hanns; Zamani, Mina; Chamanrou, Niloofar; Shariati, Gholamreza; Sadeghian, Saeid; Azizimalamiri, Reza; Maddirevula, Sateesh; Almuhaizea, Muhammad; Alkuraya, Fowzan S.; Horvath, Rita; Gungor, Serdal; Manzur, Adnan; Munot, Pinki; Matthews, Rachael; Banka, Siddharth; Reilly, Mary M.; Bennett, Daimark; O'keefe, Raymond T.; Newman, William G.

LANCET NEUROLOGY; AUG 2025, 24 8, p667-p680, 14p.

Musilova, Alena; Lassuthova, Petra; Uhrova Meszarosova, Anna; Straka, Barbora; Krejcikova, Jana; Berounska, Anna; Vlckova, Marketa; Musova, Zuzana; Safka Brozkova, Dana

NEUROLOGY-GENETICS; AUG 2025, 11 4, pe200272 13p.

Montanucci, L; Lewis-Smith, D; Collins, RL; Niestroj, LM; Parthasarathy, S; Xian, J; Ganesan, S; Macnee, M; Brünger, T; Thomas, RH; Talkowski, M; Motelow, JE; Povysil, G; Dhindsa, RS; Stanley, KE; Allen, AS; Goldstein, DB; Feng, YCA; Howrigan, DP; Abbott, LE; Tashman, K; Cerrato, F; Cusick, C; Singh, T; Heyne, H; Byrnes, AE; Churchhouse, C; Watts, N; Solomonson, M; Lal, D; Gupta, N; Neale, BM; Berkovic, SF; Lerche, H; Lowenstein, DH; Cavalleri, GL; Cossette, P; Cotsapas, C; De Jonghe, P; Dixon-Salazar, T; Guerrini, R; Hakonarson, H; Heinzen, EL; Helbig, I; Kwan, P; Marson, AG; Petrovski, S; Kamalakaran, S; Sisodiya, SM; Stewart, R; Weckhuysen, S; Depondt, C; Dlugos, DJ; Scheffer, IE; Striano, P; Freyer, C; Krause, R; May, P; McKenna, K; Regan, BM; Bennett, CA; Leech, SL; Leu, C; O’Brien, TJ; Todaro, M; Stamberger, H; Depondti, C; Andrade, DM; Ali, QZ; Sadoway, TR; Krestel, H; Schaller, A; Papacostas, SS; Kousiappa, I; Tanteles, GA; Yiolanda, C; Šterbová, K; Vlcková, M; Sedlácková, L; Laššuthová, P; Klein, KM; Rosenow, F; Reif, PS; Knake, S; Neubauer, BA; Zimprich, F; Feucht, M; Reinthaler, E; Kunz, WS; Zsurka, G; Surges, R; Baumgartner, TH; Von Wrede, R; Pendziwiat, M; Muhle, H; Rademacher, A; Van Baalen, A; Von Spiczak, S

Möller B; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Becker LL; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Institute for Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Saffari A; Heidelberg University, Medical Faculty Heidelberg, University Hospital Heidelberg, Center for Pediatrics and Adolescent Medicine, Department of Pediatrics I, Division of Child Neurology and Metabolic Medicine, 69120 Heidelberg, Germany.; Afenjar A; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Intellectual Disabilities of Rare Causes, Department of Genetics and Medical Embryology, Sorbonne University, Trousseau Hospital Paris, 75012 Paris, France.; Coci EG; Department of Paediatrics, Otto-von-Guericke-University Magdeburg, 39120 Magdeburg, Germany.; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.; Williamson R; Akron Children's Hospital Genetic Center, Akron, OH 44308, USA.; Ward-Melver C; Akron Children's Hospital Genetic Center, Akron, OH 44308, USA.; Gibaud M; Service de pédiatrie, CHU de Nantes, 44000 Nantes, France.; Sedláčková L; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; Laššuthová P; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; Libá Z; Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; Vlčková M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; William N; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55901, USA.; Klee EW; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN 55905, USA.; Gavrilova RH; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN 55905, USA.; Lévy J; Genetics Department, AP-HP, Robert-Debré University Hospital, 75019 Paris, France.; Capri Y; Genetics Department, AP-HP, Robert-Debré University Hospital, 75019 Paris, France.; Scavina M; Division of Neurology, Nemours Children's Health, Wilmington, Delaware 19803, USA.; Körner RW; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Valivullah Z; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA.; Weiß C; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Möller GM; Berlin University of Applied Sciences and Technology, 10587 Berlin, Germany.; Frazier Z; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Roberts A; Center for Cardiovascular Genetics, Boston Children's Hospital, Boston, MA 02115, USA.; Gener B; Department of Genetics, Cruces University Hospital, Biobizkaia Health Research Institute, Barakaldo 48903, Spain.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.; Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Thiel M; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.; Kamsteeg EJ; Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892, USA.; Duboc V; Department of Medical Genetics, Université Côte D'Azur, Centre Hospitalier Universitaire Nice, 06000 Nice, France.; Zaafrane-Khachnaoui K; Department of Medical Genetics, Université Côte D'Azur, Centre Hospitalier Universitaire Nice, 06000 Nice, France.; Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Trust, Cambridge CB2 3EH, UK.; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine unit, Kasr Al-Ainy School of Medicine, Cairo University, 4390330 Cairo, Egypt.; Selim L; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine unit, Kasr Al-Ainy School of Medicine, Cairo University, 4390330 Cairo, Egypt.; Margot H; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France.; Marin V; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France.; Beneteau C; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France.; Isidor B; Genetics Department, Nantes University, CHU de Nantes, 44000 Nantes, France.; Cogne B; Genetics Department, Nantes University, CHU de Nantes, 44000 Nantes, France.; Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, 75013 Paris, France.; Küsters B; Department of Pathology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Beggs AH; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02445, USA.; Sveden A; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Chopra M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Genetti CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02445, USA.; Nicolai J; Department of Neurology, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.; Dötsch J; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Koy A; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892, USA.; von der Hagen M; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307  Dresden, Germany.; von Kleist-Retzow JC; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Voermans NC; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, 6525 Nijmegen, The Netherlands.; Jungbluth H; Department of Paediatric Neurology-Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London SE1 7EH, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 1YR, UK.; Dafsari HS; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Department of Paediatric Neurology-Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London SE1 7EH, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 1YR, UK.; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, 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

P. Laššuthová; R. Mazanec; D. Staněk; L. Sedláčková; B. Plevová; J. Haberlová; P. Seeman

Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

Quartesan I; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Facchini S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Brain and Behavioural Sciences, University of Pavia, 27100 Pavia, Italy.; Manini A; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Centre, Università degli Studi di Milano, Milan, Italy.; Schnekenberg RP; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Pisciotta C; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Negri S; Laboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria - MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS, Pavia, 27100, Italy.; Gaetano C; Laboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria - MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS, Pavia, 27100, Italy.; Rebelo A; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Raposo JS; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Mazanec R; Neurological Department of the Motol University Hospital, Prague, Czech Republic.; Curro R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Dominik N; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Laurà M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Grider T; Neurology, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA, USA.; Feely SM; Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, USA.; Fridman V; Department of Neurology, University of Colorado Denver School of Medicine, Aurora, CO 80045, USA.; Bertini A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Alves GM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders, University of São Paulo, Ribeirao Preto 14040-900, Brazil.; Ferullo L; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Clinical and Experimental Sciences, University of Brescia, 25121 Brescia, Italy.; Ghia A; Department of Brain and Behavioural Sciences, University of Pavia, 27100 Pavia, Italy.; Caccia C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Balistreri F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Saveri P; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Crivellari L; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Moroni I; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Danti FR; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Mongini T; Department of Neurosciences Rita Levi Montalcini, University of Turin, Turin, Italy.; Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Auer-Grumbach M; Department of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria.; Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Sleigh JN; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; UK Dementia Research Institute, University College London, London, UK.; Tucci A; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Laššuthová P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.; Seeman P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.; Basile A; Department of Molecular Medicine, Medical Genetics Unit, University of Pavia, 27100 Pavia, Italy.; Giorgio E; Department of Molecular Medicine, Medical Genetics Unit, University of Pavia, 27100 Pavia, Italy.; IRCCS Mondino Foundation, Neurogenetics Research Centre, 27100 Pavia, Italy.; Shy ME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.; Zuchner S; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Pareyson D; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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

Lauerova, Barbora; Dolanska, Anezka; Lassuthova, Petra; Stanclova, Denisa; Rohlenova, Marie; Morimoto, Marie; Zuchner, Stephan; Xu, Isaac R. L.; Rebelo, Adriana; Haberlova, Jana

NEUROMUSCULAR DISORDERS; JUN 2025, 51 p105366 5p.

Straka B; Department of Paediatric Neurology, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.; Koblížek M; Department of Pathology and Molecular Medicine, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.; Splítková B; Department of Paediatric Neurology, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.; Valkovičová R; Department of Paediatric Neurology, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.; Krsková L; Department of Pathology and Molecular Medicine, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.; Kalinová M; Department of Pathology and Molecular Medicine, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.; Vlčková M; Department of Biology and Medical Genetics, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.; Zámečník J; Department of Pathology and Molecular Medicine, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.; Laššuthová P; Department of Paediatric Neurology, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.; Sedláčková L; Department of Paediatric Neurology, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.; Staněk D; Second Faculty of Medicine, Charles University, Prague, Czech Republic.; Maulisová A; Department of Clinical Psychology, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.; Tichý M; Department of Neurosurgery, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.; Kynčl M; Department of Radiology, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.; Kršek P; Department of Paediatric Neurology, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.

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

Epi25 Collaborative; Feng YA; Howrigan DP; Abbott LE; Tashman K; Cerrato F; Singh T; Heyne H; Byrnes A; Churchhouse C; Watts N; Solomonson M; Lal D; Heinzen EL; Dhindsa RS; Stanley KE; Cavalleri GL; Hakonarson H; Helbig I; Krause R; May P; Weckhuysen S; Petrovski S; Kamalakaran S; Sisodiya SM; Cossette P; Cotsapas C; De Jonghe P; Dixon-Salazar T; Guerrini R; Kwan P; Marson AG; Stewart R; Depondt C; Dlugos DJ; Scheffer IE; Striano P; Freyer C; McKenna K; Regan BM; Bellows ST; Leu C; Bennett CA; Johns EMC; Macdonald A; Shilling H; Burgess R; Weckhuysen D; Bahlo M; O'Brien TJ; Todaro M; Stamberger H; Andrade DM; Sadoway TR; Mo K; Krestel H; Gallati S; Papacostas SS; Kousiappa I; Tanteles GA; Štěrbová K; Vlčková M; Sedláčková L; Laššuthová P; Klein KM; Rosenow F; Reif PS; Knake S; Kunz WS; Zsurka G; Elger CE; Bauer J; Rademacher M; Pendziwiat M; Muhle H; Rademacher A; van Baalen A; von Spiczak S; Stephani U; Afawi Z; Korczyn AD; Kanaan M; Canavati C; Kurlemann G; Müller-Schlüter K; Kluger G; Häusler M; Blatt I; Lemke JR; Krey I; Weber YG; Wolking S; Becker F; Hengsbach C; Rau S; Maisch AF; Steinhoff BJ; Schulze-Bonhage A; Schubert-Bast S; Schreiber H; Borggräfe I; Schankin CJ; Mayer T; Korinthenberg R; Brockmann K; Dennig D; Madeleyn R; Kälviäinen R; Auvinen P; Saarela A; Linnankivi T; Lehesjoki AE; Rees MI; Chung SK; Pickrell WO; Powell R; Schneider N; Balestrini S; Zagaglia S; Braatz V; Johnson MR; Auce P; Sills GJ; Baum LW; Sham PC; Cherny SS; Lui CHT; Barišić N; Delanty N; Doherty CP; Shukralla A; McCormack M; El-Naggar H; Canafoglia L; Franceschetti S; Castellotti B; Granata T; Zara F; Iacomino M; Madia F; Vari MS; Mancardi MM; Salpietro V; Bisulli F; Tinuper P; Licchetta L; Pippucci T; Stipa C; Minardi R; Gambardella A; Labate A; Annesi G; Manna L; Gagliardi M; Parrini E; Mei D; Vetro A; Bianchini C; Montomoli M; Doccini V; Marini C; Suzuki T; Inoue Y; Yamakawa K; Tumiene B; Sadleir LG; King C; Mountier E; Caglayan SH; Arslan M; Yapıcı Z; Yis U; Topaloglu P; Kara B; Turkdogan D; Gundogdu-Eken A; Bebek N; Uğur-İşeri S; Baykan B; Salman B; Haryanyan G; Yücesan E; Kesim Y; Özkara Ç; Poduri A; Shiedley BR; Shain C; Buono RJ; Ferraro TN; Sperling MR; Lo W; Privitera M; French JA; Schachter S; Kuzniecky RI; Devinsky O; Hegde M; Khankhanian P; Helbig KL; Ellis CA; Spalletta G; Piras F; Gili T; Ciullo V; Reif A; McQuillin A; Bass N; McIntosh A; Blackwood D; Johnstone M; Palotie A; Pato MT; Pato CN; Bromet EJ; Carvalho CB; Achtyes ED; Azevedo MH; Kotov R; Lehrer DS; Malaspina D; Marder SR; Medeiros H; Morley CP; Perkins DO; Sobell JL; Buckley PF; Macciardi F; Rapaport MH; Knowles JA; Fanous AH; McCarroll SA; Gupta N; Gabriel SB; Daly MJ; Lander ES; Lowenstein DH; Goldstein DB; Lerche H; Berkovic SF; Neale BM.

American journal of human genetics (Online) 105 (2019): 267–282. doi:10.1016/j.ajhg.2019.05.020
info:cnr-pdr/source/autori:Feng Y.-C.A.; Howrigan D.P.; Abbott L.E.; Tashman K.; Cerrato F.; Singh T.; Heyne H.; Byrnes A.; Churchhouse C.; Watts N.; Solomonson M.; Lal D.; Heinzen E.L.; Dhindsa R.S.; Stanley K.E.; Cavalleri G.L.; Hakonarson H.; Helbig I.; Krause R.; May P.; Weckhuysen S.; Petrovski S.; Kamalakaran S.; Sisodiya S.M.; Cossette P.; Cotsapas C.; De Jonghe P.; Dixon-Salazar T.; Guerrini R.; Kwan P.; Marson A.G.; Stewart R.; Depondt C.; Dlugos D.J.; Scheffer I.E.; Striano P.; Freyer C.; McKenna K.; Regan B.M.; Bellows S.T.; Leu C.; Bennett C.A.; Johns E.M.C.; Macdonald A.; Shilling H.; Burgess R.; Weckhuysen D.; Bahlo M.; O'Brien T.J.; Todaro M.; Stamberger H.; Andrade D.M.; Sadoway T.R.; Mo K.; Krestel H.; Gallati S.; Papacostas S.S.; Kousiappa I.; Tanteles G.A.; Sterbova K.; Vlckova M.; Sedlackova L.; Lassuthova P.; Klein K.M.; Rosenow F.; Reif P.S.; Knake S.; Kunz W.S.; Zsurka G.; Elger C.E.; Bauer J.; Rademacher M.; Pendziwiat M.; Muhle H.; Rademacher A.; van Baalen A.; von Spiczak S.; Stephani U.; Afawi Z.; Korczyn A.D.; Kanaan M.; Canavati C.; Kurlemann G.; Muller-Schluter K.; Kluger G.; Hausler M.; Blatt I.; Lemke J.R.; Krey I.; Weber Y.G.; Wolking S.; Becker F.; Hengsbach C.; Rau S.; Maisch A.F.; Steinhoff B.J.; Schulze-Bonhage A.; Schubert-Bast S.; Schreiber H.; Borggrafe I.; Schankin C.J.; Mayer T.; Korinthenberg R.; Brockmann K.; Dennig D.; Madeleyn R.; Kalviainen R.; Auvinen P.; Saarela A.; Linnankivi T.; Lehesjoki A.-E.; Rees M.I.; Chung S.-K.; Pickrell W.O.; Powell R.; Schneider N.; Balestrini S.; Zagaglia S.; Braatz V.; Johnson M.R.; Auce P.; Sills G.J.; Baum L.W.; Sham P.C.; Cherny S.S.; Lui C.H.T.; Barisic N.; Delanty N.; Doherty C.P.; Shukralla A.; McCormack M.; El-Naggar H.; Canafoglia L.; Franceschetti S.; Castellotti B.; Granata T.; Zara F.; Iacomino M.; Madia F.; Vari M.S.; Mancardi M.M.; Salpietro V.; Bisulli F.; Tinuper P.; Licchetta L.; Pippucci T.; Stipa C.; Minardi R.; Gambardella A.; Labate A.; Annesi G.; Manna L.; Gagliardi M.; Parrini E.; Mei D.; Vetro A.; Bianchini C.; Montomoli M.; Doccini V.; Marini C.; Suzuki T.; Inoue Y.; Yamakawa K.; Tumiene B.; Sadleir L.G.; King C.; Mountier E.; Caglayan S.H.; Arslan M.; Yapici Z.; Yis U.; Topaloglu P.; Kara B.; Turkdogan D.; Gundogdu-Eken A.; Bebek N.; Ugur-Iseri S.; Baykan B.; Salman B.; Haryanyan G.; Yucesan E.; Kesim Y.; Ozkara C.; Poduri A.; Shiedley B.R.; Shain C.; Buono R.J.; Ferraro T.N.; Sperling M.R.; Lo W.; Privitera M.; French J.A.; Schachter S.; Kuzniecky R.I.; Devinsky O.; Hegde M.; Khankhanian P.; Helbig K.L.; Ellis C.A.; Spalletta G.; Piras F.; Piras F.; Gili T.; Ciullo V.; Reif A.; McQuillin A.; Bass N.; McIntosh A.; Blackwood D.; Johnstone M.; Palotie A.; Pato M.T.; Pato C.N.; Bromet E.J.; Carvalho C.B.; Achtyes E.D.; Azevedo M.H.; Kotov R.; Lehrer D.S.; Malaspina D.; Marder S.R.; Medeiros H.; Morley C.P.; Perkins D.O.; Sobell J.L.; Buckley P.F.; Macciardi F.; Rapaport M.H.; Knowles J.A.; Fanous A.H.; McCarroll S.A.; Gupta N.; Gabriel S.B.; Daly M.J.; Lander E.S.; Lowenstein D.H.; Goldstein D.B.; Lerche H.; Berkovic S.F.; Neale B.M./titolo:Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals/doi:10.1016%2Fj.ajhg.2019.05.020/rivista:American journal of human genetics (Online)/anno:2019/pagina_da:267/pagina_a:282/intervallo_pagine:267–282/volume:105
American Journal of Human Genetics, vol 105, iss 2
The American Journal of Human Genetics

Štěrbová, K.; Vlčková, M.; Hansíková, H.; Sebroňová, V.; Sedláčková, L.; Pavlíček, P.; Laššuthová, P.

neurogenetics. :1-2

Cooles, Faye; Vidal-Pedrola, Gemma; Naamane, Najib; Pratt, Arthur; Barron-Millar, Ben; Anderson, Amy; Hilkens, Catharien; Casement, John; Bondet, Vincent; Duffy, Darragh; Zhang, Fan; Shukla, Ruchi; Isaacs, John; Little, Martin; Payne, Miranda; Coupe, Nicholas; Fairfax, Benjamin; Taylor, Chelsea Alice; Mackay, Sophie; Milotay, Gusztav; Bos, Saskia; Hunter, Bethany; Mcdonald, David; Merces, George; Sheldon, Georgia; Pradere, Pauline; Majo, Joaquim; Pulle, Julian; Vanstapel, Arno; Vanaudenaerde, Bart M.; Vos, Robin; Filby, Andrew J.; Fisher, Andrew J.; Collier, Jack; Lambton, James; Suomi, Fumi; Prigent, Magali; Guissart, Claire; Erskine, Daniel; Rozanska, Agata; Mccorvie, Thomas; Trimouille, Aurelien; Imam, Aliza; Hobson, Emma; Mccullagh, Helen; Frengen, Eirik; Misceo, Doriana; Bjerre, Anna; Smeland, Marie; Klingenberg, Claus; Alkuraya, Fowzan; Mcfarland, Robert; Alston, Charlotte; Yue, Wyatt; Legouis, Renaud; Koenig, Michel; Lako, Majlinda; Mcwilliams, Thomas; Olahova, Monika; Taylor, Rob; Newman, William; Harkness, Rob; McDermott, John; Metcalfe, Kay; Khan, Naz; Macken, William; Pitceathly, Robert; Record, Christopher; Maroofian, Reza; Sabir, Ataf; Santra, Saikat; Urquhart, Jill; Demain, Leigh; Byers, Helen; Beaman, Glenda; Taylor, Robert; Durmusalioglu, Enise; Atik, Tahir; Isik, Esra; Cogulu, Ozgur; Reunert, Janine; Marquardt, Thorsten; Ryba, Lukas; Buchert-Lo, Rebecca; Haack, Tobias; Lassuthova, Petra; Polavarapu, Kiran; Lochmuller, Hans; Horvath, Rita; Jamieson, Peter; Reilly, Mary; O'Keefe, Ray; Boggan, Roisin; Ng, Yi Shiau; Franklin, Imogen; Blakely, Emma; Buechner, Boriana; Bugiardini, Enrico; Colclough, Kevin; Feeney, Catherine; Hanna, Michael; Hattersley, Andrew; Klopstock, Thomas; Kornblum, Cornelia; Mancuso, Michelangelo; Patel, Kashyap; Pizzamiglio, Chiara; Prokisch, Holger; Schaefer, Jochen; Schaefer, Andrew; Shepherd, Maggie; Thaele, Annemarie; Thomas, Rhys; Turnbull, Doug; Gorman, Grainne; Woodward, Cathy; McFarland, Robert; Cordell, Heather; Pickett, Sarah; Tsilifis, Christo; Pearce, Mark; Gennery, Andrew; Daly, Ann; Darlay, Rebecca; Zatorska, Michalina; Worthington, Sarah; Anstee, Quentin; Reeves, Helen; Nizami, Salem; Mauricio-Muir, Joao; McCain, Misti; Singh, Ranjeet; Wordsworth, James; Kadharusman, Marcello; Watson, Robyn; Masson, Steven; McPherson, Stuart; Burt, Alastair; Tiniakos, Dina; Littler, Peter; Nsengimana, Jeremie; Zhang, Sylvia; Mann, Derek; Jamieson, David; Leslie, Jack; Wilson, Caroline; Betts, Jill; Croall, Iain; Hoggard, Nigel; Bennett, Joshua; Hollingsworth, Kieren G.; Pratt, Arthur G.; Egail, Maha; Di Leo, Valeria; Taylor, Robert W.; Dodds, Richard; Anderson, Amy E.; Sayer, Avan Aihie; Isaacs, John D.; McCracken, Celeste; Condurache, Dorina-Gabriela; Szabo, Liliana; Elghazaly, Hussein; Walter, Fiona; Meade, Adam; Chakraverty, Ronjon; Harvey, Nicholas; Manisty, Charlotte; Petersen, Steffen; Neubauer, Stefan; Raisi-Estabragh, Zahra; Allen, Lowri; Taylor, Peter; Carlsson, Annelie; Hagopian, William; Hedlund, Emma; Hill, Anita; Jones, Angus; Ludvigsson, Johnny; Onengut-Gumuscu, Suna; Redondo, Maria; Rich, Stephen; Gillespie, Kathleen; Dayan, Colin; Oram, Richard; Resteu, Anastasia; Wonders, Kristy; Schattenberg, Joern; Straub, Beate; Ekstedt, Mattias; Berzigotti, Annalisa; Geier, Andreas; Francque, Sven; Driessen, Ann; Boursier, Jerome; Yki-Jarvinen, Hannele; Arola, Johanna; Aithal, Guruprasad; Holleboom, Adriaan; Verheij, Joanne; Yunis, Carla; Trylesinski, Aldo; Papatheodoridis, George; Petta, Salvatore; Romero-Gomez, Manuel; Bugianesi, Elisabetta; Paradis, Valerie; Ratziu, Vlad; Burton, Jenni; Ciminata, Giorgio; Geue, Claudia; Quinn, Terry; Glover, Emily; Morais, Mychel; Reynolds, Gary; Denby, Laura; Ali, Simi; Lennon, Rachel; Sheerin, Neil; Yang, Freda; Zounemat-Kermani, Nazanin; Dixey, Piers; Adcock, Ian M.; Bloom, Chloe I.; Chung, Kian Fan; Govaere, Olivier; Hasoon, Megan; Alexander, Leigh; Cockell, Simon; Schattenberg, Joern M.; Daly, Ann K.; Anstee, Quentin M.

QJM-AN INTERNATIONAL JOURNAL OF MEDICINE; SEP 19 2024, 12p.

Harkness, J.R.; McDermott, J.H.; Metcalfe, K.A.; Khan, N.; Urquhart, J.E.; Beaman, G.M.; Demain, L.A.; Jackson, A.; Blakes, A.J.M.; Byers, H.J.; Banka, S.; Newman, W.G.; O'Keefe, R.T.; Marsden, S.; Bennett, D.; Jamieson, P.; Macken, W.L.; Pitceathly, R.D.S.; Record, C.J.; Maroofian, R.; Reilly, M.M.; Kleopa, K.; Christodoulou, K.; Sabir, A.; Islam, L.; Santra, S.; Durmusalioglu, E.A.; Atik, T.; Isik, E.; Cogulu, O.; Bennett, H.; Lin, W.-H.; Adamson, A.; Patel, S.; Yue, W.W.; Taylor, R.W.; Reunert, J.; Marquardt, T.; Buchert, R.; Haack, T.; Losch, H.; Ryba, L.; Lassuthova, P.; Valkovičová, R.; Haberlová, J.; Lauerová, B.; Trúsiková, E.; Polavarapu, K.; Kilicarslan, O.A.; Lochmüller, H.; Zamani, M.; Chamanrou, N.; Shariati, G.; Sadeghian, S.; Azizimalamiri, R.; Maddirevula, S.; AlMuhaizea, M.; Alkuraya, F.S.; Horvath, R.; Gungor, S.; Manzur, A.; Munot, P.; Matthews, R.

In: The Lancet Neurology. (The Lancet Neurology, August 2025, 24(8):667-680)

Lischka A; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Eggermann K; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Dohrn MF; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.; Laššuthová P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia.; Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Dey D; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Beijer D; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.; Šoukalová J; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czechia.; Laura M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Mazanec R; Department of Neurology, Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Prague, Czechia.; Van Lent J; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium.; Tomaselli PJ; Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil.; Ungelenk M; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.; Debus KY; Center for Molecular Biomedicine Institute for Biophysics, Friedrich-Schiller Universität Jena, 07745 Jena, Germany.; Feely SME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA 98105, USA.; Gläser D; Center for Human Genetics, Genetikum®, 89231 Neu-Ulm, Germany.; Jagadeesh S; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.; Martin M; Davis and Davis Children's Hospital, University of California, Sacramento, CA 95817, USA.; Govindaraj GM; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.; Singhi P; Pediatric Neurology and Neurodevelopment, Medanta, The Medicity, Gurgaon, Haryana 122 001, India.; Baineni R; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India.; Biswal N; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India.; Ibarra-Ramírez M; Genetics Department, Hospital Universitario Dr. José Eleuterio González Universidad Autónoma de Nuevo León, 64460 Monterrey, Nuevo León, México.; Bonduelle M; Centre for Medical Genetics, Universitair Ziekenhuis Brussel, 1090 Jette, Brussels, Belgium.; Gess B; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; Department of Neurology, University Hospital, Evangelisches Klinikum Bethel, University of Bielefeld, 33617 Bielefeld, Germany.; Romero Sánchez J; Pediatría, Clínica Premium, 29601 Marbella, Spain.; Suthar R; Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh 160 012, India.; Udani V; Department of Child Neurology, PD Hinduja Hospital and Medical Research Centre, Mumbai, Maharashtra 400 016, India.; Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India.; Unnikrishnan G; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India.; Marques W Junior; Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil.; Mercier S; CHU Nantes, Service de Génétique Médicale, Centre de Référence des Maladies Neuromusculaires AOC, 44000 Nantes, France.; Procaccio V; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France.; Bris C; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France.; Suresh B; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.; Reddy V; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.; Skorupinska M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Bonello-Palot N; INSERM, MMG, U 1251, Marseille, France, Aix Marseille Univ, 13385 Marseille, France.; Mochel F; Genetics Department, Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, 75013 Paris, France.; Dahl G; Pediatric Neurology, Children's Hospital of the King's Daughters in Norfolk, Norfolk, VA 23507, USA.; Sasidharan K; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.; Devassikutty FM; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.; Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala 682 041, India.; Rodovalho Doriqui MJ; Department of Genetics, Hospital Infantil Doutor Juvêncio Mattos, São Luis, Maranhão 65015-460, Brazil.; Müller-Felber W; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, LMU Campus Innenstadt, University of Munich, 80337 Munich, Germany.; Vill K; Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, 80337 Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Abele M; Neurologie, Praxis für Neurologie und Schlafmedizin, 53359 Rheinbach, Germany.; Stucka R; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany.; Siddiqi S; Genomics Group, Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan.; Ullah N; Institute for Paramedical Sciences, Khyber Medical University, Peshawar, KPK 25100, Pakistan.; Spranger S; MVZ Humangenetik Bremen, Limbach Genetics, 28209 Bremen, Germany.; Chiabrando D; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10124 Turin, Italy.; Bolgül BS; Department of Pedodontics, Faculty of Dentistry, Dicle University, 21200 Diyarbakir, Turkey.; Parman Y; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Seeman P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia.; Lampert A; Institute of Neurophysiology, Medical Faculty, Uniklinik RWTH Aachen University, 52074 Aachen, Germany.; Schulz JB; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Research Centre Jülich GmbH, and RWTH Aachen University, 52056 Aachen, Germany.; Wood JN; Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK.; Cox JJ; Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK.; Auer-Grumbach M; Department of Orthopedics and Trauma Surgery, Medical University of Vienna, 1090 Vienna, Austria.; Timmerman V; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium.; de Winter J; Translational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2610 Antwerp, Belgium.; Themistocleous AC; Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK.; Shy M; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Bennett DL; Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK.; Baets J; Translational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2610 Antwerp, Belgium.; Hübner CA; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.; Leipold E; Department of Anesthesiology and Intensive Care and CBBM-Center of Brain, Behavior and Metabolism, University of Luebeck, 23562 Luebeck, Germany.; Züchner S; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Çakar A; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Senderek J; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany.; Hornemann T; Department of Clinical Chemistry, University Hospital Zurich, University of Zurich, 8006 Zurich, Switzerland.; Woods CG; Cambridge Institute for Medical Research, Keith Peters Building, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, 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

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