학술논문

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MichaelGoldberg, Ronald N.Goldstein, Ricki F.Malcolm, William F.Mago-Shah, DeeshaAshley, Patricia L.Finkle, JoanneAuten, Kathy J.Fisher, Kimberley A.Grimes, SandraGustafson, Kathryn E.Lohmeyer, Melody B.Laughon, Matthew M.Bose, Carl L.Bernhardt, JaniceBose, GennieClark, CindyTalbert, JenniferWarner, DianeTrembath, AndreaO'Shea, T. MichaelWereszczak, JaniceKicklighter, Stephen D.Rhodes-Ryan, GingerWhite, DonnaPatel, Ravi M.Carlton, David P.Stoll, Barbara J.Hale, Ellen C.Loggins, Yvonne C.Adams-Chapman, IraBlackwelder, AnnBottcher, Diane I.Carter, Sheena L.Kendrick-Allwood, SalathielLaursen, JudithLaRossa, Maureen MulliganMackie, ColleenSanders, AmySeabrook, IrmaSmikle, GloriaWineski, Lynn C.Higgins, Rosemary D.Bremer, Andrew A.Archer, Stephanie WilsonSokol, Gregory M.Dusick, Anna M.Papile, Lu AnnGunn, SusanHamer, FaitheHarmon, Heidi M.Herron, Dianne E.Hines, Abbey C.Lytle, CarolynMiller, Lucy C.Minnich, Heike M.Richard, LeslieSmiley, LucyWilson, Leslie DawnTyson, Jon E.Kennedy, Kathleen A.Khan, Amir M.Duncan, AndreaMosquera, RicardoStephens, Emily K.McDavid, Georgia E.Alaniz, Nora I.Allain, ElizabethArldt-McAlister, JulieBurson, KatrinaDempsey, Allison G.Eason, ElizabethEvans, Patricia W.Garcia, CarmenGreen, CharlesHall, DonnaHarris, Beverly FoleyJiminez, MargaritaJohn, JaniceJones, Patrick M.Lillie, M. 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KennethZaterka-Baxter, Kristin M.Van Meurs, Krisa P.Chock, Valerie Y.Stevenson, David K.Adams, Marian M.Ball, M. BethanyBentley, BarbaraBruno, ElizabethDavis, Alexis S.Elena DeAnda, MariaDeBattista, Anne M.Huffman, Lynne C.Ismael, MagdyKohn, Jean G.Krueger, CaseyLowe, JaniceLucash, Ryan E.Palmquist, Andrew W.Patel, JessicaProud, Melinda S.Reichert, Elizabeth N.John, Nicholas H. St.Sivakumar, DharshiTaylor, Heather L.Wager, NatalieWilliams, R. JordanWeiss, HaliFrantz, Ivan D., IIIFiascone, John M.MacKinnon, Brenda L.Furey, AnneNylen, EllenChurch, Paige T.Sibley, Cecelia E.Brussa, Ana K.Carlo, Waldemar A.Ambalavanan, NamasivayamPeralta-Carcelen, MyriamNelson, Kathleen G.Bailey, Kirstin J.Biasini, Fred J.Chopko, Stephanie A.Collins, Monica V.Cosby, Shirley S.Johnston, Kristen C.Moses, Mary BethPatterson, Cryshelle S.Phillips, Vivien A.Preskitt, JulieRector, Richard V.Whitley, SallyDevaskar, UdayGarg, MeenaPurdy, Isabell B.Chanlaw, TeresaGeller, RachelFiner, Neil N.Vaucher, Yvonne E.Kaegi, DavidRasmussen, Maynard R.Arnell, KathyDemetrio, ClarenceFuller, Martha G.Rich, WadeBell, Edward F.Colaizy, Tarah T.Widness, John A.Brumbaugh, Jane E.Acarregui, Michael J.Johnson, Karen J.Eastman, Diane L.Goeke, Claire A.Schmelzel, Mendi L.Walker, Jacky R.Baack, Michelle L.Hogden, Laurie A.Broadbent, MeganElenkiwich, ChelseyHenning, Megan M.Van Muyden, SarahEllsbury, Dan L.Campbell, Donia B.Tud, Tracy L.Duara, ShahnazBauer, Charles R.Everett-Thomas, RuthFajardo-Hiriart, SylviaRigaud, ArielleCalejo, MariaFrade Eguaras, Silvia M.Berkowits, Michelle HarwoodGarcia, AndreaPierre, HelinaStoerger, AlexandraWatterberg, Kristi L.Fuller, JanellOhls, Robin K.Beauman, Sandra SundquistLacy, Conra BackstromDuncan, Andrea F.Hanson, MaryHartenberger, CarolKuan, ElizabethLowe, Jean R.Thomson, Rebecca A.DeMauro, Sara B.Eichenwald, Eric C.Schmidt, BarbaraKirpalani, HareshChaudhary, Aasma S.Abbasi, SorayaMancini, ToniCatts, ChristineCook, NoahCucinotta, Dara M.Bernbaum, Judy C.Gerdes, MarshaGhavam, SarvinHurt, HallamSnyder, JonathanVangala, SarithaZiolkowski, KristinaD'Angio, Carl T.Phelps, Dale L.Guillet, RonnieMyers, Gary J.Andrews-Hartley, MichelleJohnson, Julie BabishBinion, KyleBowman, MelissaBoylin, ElizabethBurnell, EricaColeman, Kelly R.Fallone, CaitFarooq, OsmanHunn, JulianneHust, DianeJensen, Rosemary L.Jones, RachelKachelmeyer, JenniferKushner, EmilyMaffett, DeannaMcKee, Kimberly G.Merzbach, JoanOrme, ConstancePrinzing, DianeReubens, Linda J.Rochez, DaisyRowan, MarySabaratnam, PreminiScorsone, Ann MarieWadkins, Holly I.M.Yost, KelleyZwetsch, LaurenLakshminrusimha, SatyanReynolds, Anne MarieSacilowski, Michael G.Guilford, StephanieLi, EmilyWilliams, AshleyZorn, William A.Wyckoff, Myra H.Brion, Luc P.Salhab, Walid A.Rosenfeld, Charles R.Heyne, Roy J.Vasil, Diana M.Adams, Sally S.Chen, LijunDe Leon, Maria M.Eubanks, FrancisGuzman, AliciaHensley, GaynelleHeyne, Elizabeth T.Lee, Lizette E.Leps, Melissa H.Madden, Linda A.McDougald, E. RebeccaMiller, Nancy A.Morgan, Janet S.Pavageau, LaraSepulveda, PollieannaTolentino-Plata, KristineBoatman, Cathy TwellVera, AzucenaWaterbury, JillianYoder, Bradley A.Baserga, MarianaFaix, Roger G.Winter, SarahMinton, Stephen D.Sheffield, Mark J.Rau, Carrie A.Baker, ShawnaBird, KarieBurnett, JillChristensen, SusanCole-Bledsoe, LauraDavis, BrandyElmont, Jennifer O.Jensen, Jennifer J.Loertscher, Manndi C.Jordan, JamieMarchant, TrishaMaxson, EarlMcGrath, Kandace M.Osborne, Karen A.Parry, D. MelodyReich, Brixen A.Schaefer, Susan T.Spencer, CynthiaSteffen, MichaelTice, KatherineWeaver-Lewis, KimberleeWoodbury, Kathryn D.Zanetti, KarenDillard, Robert G.Washburn, Lisa K.Jackson, Barbara G.Peters, NancyChiu, KorinneAllred, Deborah EvansGoldstein, Donald J.Halfond, RaquelPeterson, CarrollWaldrep, Ellen L.Welch, Cherrie D.Morris, Melissa WhalenHounshell, Gail WileyShankaran, SeethaSood, Beena G.Natarajan, GirijaPappas, AthinaAbramczyk, KatherineAgarwal, PrashantBajaj, MonikaBara, RebeccaBillian, ElizabethChawla, SanjayChilds, KirstenDe Jesus, Lilia C.Driscoll, DebraFebruary, MelissaGoldston, Laura A.Johnson, Mary E.Muran, GeraldinePanaitescu, BogdanPrentiss, Jeannette E.White, DianeWoldt, EuniceBarks, JohnWiggins, Stephanie A.Christensen, Mary K.Carlson, Martha D.Ehrenkranz, Richard A.Jacobs, HarrisButler, Christine G.Cervone, PatriciaGreisman, SheilaKonstantino, MonicaPoulsen, JoAnnTaft, JanetWilliams, JoanneRomano, ElaineVohr, Betty R.Travers, Colm P.Hintz, Susan R.
In The Journal of Pediatrics August 2023 259
Academic Journal
Chelban V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. v.chelban@ucl.ac.uk.; Neurobiology and Medical Genetics Laboratory, 'Nicolae Testemitanu' State University of Medicine and Pharmacy, 165, Stefan cel Mare si Sfant Boulevard, MD, 2004, Chisinau, Republic of Moldova. v.chelban@ucl.ac.uk.; Aksnes H; Department of Biomedicine, University of Bergen, Bergen, Norway. henriette.aksnes@uib.no.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; LaMonica LC; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.; Seabra L; Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.; Siggervåg A; Department of Biomedicine, University of Bergen, Bergen, Norway.; Devic P; Hospices Civils de Lyon, Groupement Hospitalier Sud, Service d'Explorations Fonctionnelles Neurologiques, Lyon, France.; Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Richard AC; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.; Quenez O; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.; Bonnevalle A; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.; Zanetti MN; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; South Kazakhstan Medical Academy Shymkent, Shymkent, 160019, Kazakhstan.; Salpietro V; 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.; Schottlaender LV; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Instituto de Investigaciones en Medicina Traslacional (IIMT), CONICET-Universidad Austral, Av. Juan Domingo Perón 1500, B1629AHJ, Pilar, Argentina.; Instituto de medicina genómica (IMeG), Hospital Universitario Austral, Universidad Austral, Av. Juan Domingo Perón 1500, B1629AHJ, Pilar, Argentina.; Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Tariq A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Pagnamenta AT; Oxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, Oxford, United Kingdom.; Pennavaria A; Department of Biomedicine, University of Bergen, Bergen, Norway.; Krogstad LS; Department of Biomedicine, University of Bergen, Bergen, Norway.; Bekkelund ÅK; Department of Biomedicine, University of Bergen, Bergen, Norway.; Caiella A; Department of Biomedicine, University of Bergen, Bergen, Norway.; Glomnes N; Department of Biomedicine, University of Bergen, Bergen, Norway.; Department of Clinical Science, University of Bergen, 5020, Bergen, Norway.; Brønstad KM; Department of Biomedicine, University of Bergen, Bergen, Norway.; Tury S; Institut de Recherche en Infectiologie de Montpellier, Université de Montpellier, CNRS, Montpellier, France.; Moreno De Luca A; Department of Radiology, Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada.; Boland-Auge A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.; Olaso R; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.; Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.; Anheim M; Neurology Department, Strasbourg University Hospital, Strasbourg, France.; Strasbourg Federation of Translational Medicine (FMTS), Strasbourg University, Strasbourg, France.; INSERM-U964; CNRS-UMR7104, University of Strasbourg, Illkirch-Graffenstaden, France.; Cretin B; Neurology Department, Strasbourg University Hospital, Strasbourg, France.; Strasbourg Federation of Translational Medicine (FMTS), Strasbourg University, Strasbourg, France.; INSERM-U964; CNRS-UMR7104, University of Strasbourg, Illkirch-Graffenstaden, France.; Vona B; Institute of Human Genetics, University Medical Center Göttingen, 37073, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37075, Göttingen, Germany.; Alajlan F; Department of Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Battini JL; Institut de Recherche en Infectiologie de Montpellier, Université de Montpellier, CNRS, Montpellier, France.; İpek R; Paediatric Neurology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey.; Bauer P; Centogene GmbH, Am Strande 7, 18055, Rostock, Germany.; Zifarelli G; Centogene GmbH, Am Strande 7, 18055, Rostock, Germany.; Gungor S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatrics, Division of Pediatric Neurology, Malatya, Turkey.; Kurul SH; Dokuz Eylul University, School of Medicine, Department of Paediatric Neurology, Izmir, Turkey.; Lochmuller H; Children's Hospital of Eastern Ontario Research Institute and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Da'as SI; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Weill Cornell Medical College, Doha, Qatar.; Gómez-Pascual A; Department of Information and Communications Engineering, University of Murcia, Campus Espinardo, 30100, Murcia, Spain.; Botía JA; Department of Information and Communications Engineering, University of Murcia, Campus Espinardo, 30100, Murcia, Spain.; Wood NW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Ernst AM; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.; School of Biological Sciences, Department of Cell and Developmental Biology, University of California San Diego, La Jolla, CA, USA.; Rothman JE; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; McEntagart M; Medical Genetics Department, St George's University Hospitals, London, SWI7 0RE, UK.; Crow YJ; Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Nicolas G; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.; Arnesen T; Department of Biomedicine, University of Bergen, Bergen, Norway. thomas.arnesen@uib.no.; Department of Surgery, Haukeland University Hospital, Bergen, Norway. thomas.arnesen@uib.no.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.
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
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Salpietro, VDixon, CLGuo, HBello, ODVandrovcova, JEfthymiou, SMaroofian, RHeimer, GBurglen, LValence, STorti, EHacke, MRankin, JTariq, HColin, EProcaccio, VStriano, PMankad, KLieb, AChen, SPisani, LBettencourt, CMannikko, RManole, ABrusco, AGrosso, EFerrero, GBArmstrong-Moron, JGueden, SBar-Yosef, OTzadok, MMonaghan, KGSantiago-Sim, TPerson, RECho, MTWillaert, RYoo, YChae, J-HQuan, YWu, HWang, TBernier, RAXia, KBlesson, AJain, MMotazacker, MMJaeger, BSchneider, ALBoysen, KMuir, AMMyers, CTGavrilova, RHGunderson, LSchultz-Rogers, LKlee, EWDyment, DOsmond, MParellada, MLlorente, CGonzalez-Penas, JCarracedo, AVan Haeringen, ARuivenkamp, CNava, CHeron, DNardello, RIacomino, MMinetti, CSkabar, AFabretto, AChez, MTsai, AFassi, EShinawi, MConstantino, JNDe Zorzi, RFortuna, SKok, FKeren, BBonneau, DChoi, MBenzeev, BZara, FMefford, HCScheffer, IEClayton-Smith, JMacaya, ARothman, JEEichler, EEKullmann, DMHoulden, HRaspall-Chaure, MHanna, MGBugiardini, EHostettler, IO'Callaghan, BKhan, ACortese, AO'Connor, EYau, WYBourinaris, TKaiyrzhanov, RChelban, VMadej, MDiana, MCVari, MSPedemonte, MBruno, CBalagura, GScala, MFiorillo, CNobili, LMalintan, NTZanetti, MNKrishnakumar, SSLignani, GJepson, JECBroda, PBaldassari, SRossi, PFruscione, FMadia, FTraverso, MDe-Marco, PPerez-Duenas, BMunell, FKriouile, YEl-Khorassani, MKarashova, BAvdjieva, DKathom, HTincheva, RVan-Maldergem, LNachbauer, WBoesch, SGagliano, AAmadori, EGoraya, JSSultan, TKirmani, SIbrahim, SJan, FMine, JBanu, SVeggiotti, PZuccotti, GFerrari, MDVan Den Maagdenberg, AMJVerrotti, AMarseglia, GLSavasta, SSoler, MAScuderi, CBorgione, EChimenz, RGitto, EDipasquale, VSallemi, AFusco, MCuppari, CCutrupi, MCRuggieri, MCama, ACapra, VMencacci, NEBoles, RGupta, NKabra, MPapacostas, SZamba-Papanicolaou, EDardiotis, EMaqbool, SRana, NAtawneh, OLim, SYShaikh, FKoutsis, GBreza, MCoviello, DADauvilliers, YAAlKhawaja, IAlKhawaja, MAl-Mutairi, FStojkovic, TFerrucci, VZollo, MAlkuraya, FSKinali, MSherifa, HBenrhouma, HTurki, IBYTazir, MObeid, MBakhtadze, SSaadi, NWZaki, MSTriki, CCBenfenati, FGustincich, SKara, MBelcastro, VSpecchio, NCapovilla, GKarimiani, EGSalih, AMOkubadejo, NUOjo, OOOshinaike, OOOguntunde, OWahab, KBello, AHAbubakar, SObiabo, YNwazor, EEkenze, OWilliams, UIyagba, ATaiwo, LKomolafe, MSenkevich, KShashkin, CZharkynbekova, NKoneyev, KManizha, GIsrofilov, MGuliyeva, USalayev, KKhachatryan, SRossi, SSilvestri, GHaridy, NRamenghi, LAXiromerisiou, GDavid, EAguennouz, MFidani, LSpanaki, CTucci, A
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