共 29 条
- [1] Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation[J]. CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 2017, 44 (01) : 125 - 127Abath Neto, OsorioHeise, Carlos OttoMartins Moreno, Cristiane de AraujoEstephan, Eduardo de PaulaMesrob, LiliaLechner, DorisBoland, AnneDeleuze, Jean-FrancoisBulle Oliveira, Acary SouzaReed, Umbertina ContiBiancalana, ValerieLaporte, JocelynZanoteli, Edmar
- [2] Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy[J]. SCIENCE ADVANCES, 2019, 5 (09)Ahrens-Nicklas, Rebecca C.Pappas, Christopher T.Farman, Gerrie P.Mayfield, Rachel M.Larrinaga, Tania M.Medne, LivijaRitter, AlyssaKrantz, Ian D.Murali, ChayaLin, Kimberly Y.Berger, Justin H.Yum, Sabrina W.Carreon, Chrystalle KatteGregorio, Carol C.
- [3] Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 102 (05) : 858 - 873Burns, David T.Donkervoort, SandraMuller, Juliane S.Knierim, EllenBharucha-Goebel, DianaFaqeih, Eissa AliBell, Stephanie K.AlFaifi, Abdullah Y.Monies, DorotaMillan, FranciscaRetterer, KyleDyack, SarahMacKay, SaraMorales-Gonzalez, SusanneGiunta, MicheleMunro, BenjaminHudson, GavinScavina, MenaBaker, LauraMassini, Tara C.Lek, MonkolHu, YingEzzo, DanielAlKuraya, Fowzan S.Kang, Peter B.Griffin, HelenFoley, A. ReghanSchuelke, MarkusHorvath, RitaBonnemann, Carsten G.
- [4] Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy[J]. EUROPEAN JOURNAL OF NEUROLOGY, 2023, 30 (02) : 511 - 526Cipriani, SilviaGuerrero-Valero, MartaTozza, StefanoZhao, EdwardVollmer, VeithBeijer, DaniqueDanzi, MattRivellini, CristinaLazarevic, DejanPipitone, Giovanni BattistaGrosz, Bianca RoseLamperti, CostanzaMarzoli, Stefania BianchiCarrera, PaolaDevoto, MarcellaPisciotta, ChiaraPareyson, DavideKennerson, MarinaPrevitali, Stefano C.Zuchner, StephanScherer, Steven S.Manganelli, FioreBahler, MartinBolino, Alessandra
- [5] Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy[J]. NATURE COMMUNICATIONS, 2019, 10 (1)Cristina Estan, MariaFernandez-Nunez, ElisaZaki, Maha S.Isabel Esteban, MariaDonkervoort, SandraHawkins, CynthiaCaparros-Martin, Jose A.Saade, DimahHu, YingBolduc, VeroniqueRu-Yui Chao, KatherineNevado, JulianLamuedra, AnaLargo, RaquelHerrero-Beaumont, GabrielRagavendra, JavierHernandez-Chico, ConcepcionTizzano, Eduardo F.Martinez-Glez, VictorCarvajal, Jaime J.Zong, RuitingNelson, David L.Otaify, Ghada A.Temtamy, SamiaAglan, MonaIssa, MahmoudBonnemann, Carsten G.Lapunzina, PabloYoon, GraceRuiz-Perez, Victor L.
- [6] De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2021, 108 (01) : 186 - 193Djordjevic, DjurdjaPinard, MaximeGauthier, Marie-SoleilSmith-Hicks, ConstanceHoffman, Trevor L.Wolf, Nicole, IOegema, Renskevan Binsbergen, EllenBaskin, BerivanBernard, GenevieveFribourg, SebastienCoulombe, BenoitYoon, Grace
- [7] Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice[J]. NEUROLOGY, 2016, 87 (08) : 799 - 805Durmus, HacerAyhan, OzgecanCirak, SebahattinDeymeer, FezaParman, YesimFranke, AndreEiber, NaneChevessier, FredericSchloetzer-Schrehardt, UrsulaClemen, Christoph S.Hashemolhosseini, SaidSchroeder, RolfHemmrich-Stanisak, GeorgTolun, AslihanSerdaroglu-Oflazer, Piraye
- [8] Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis[J]. HUMAN GENETICS, 2020, 139 (11) : 1443 - 1454Ganapathi, MythilyArgyriou, LoukasMartinez-Azorin, FranciscoMorlot, SusanneYigit, GokhanLee, Teresa M.Auber, Berndvon Gise, AlexanderPetrey, Donald S.Thiele, HolgerCyganek, LukasSabater-Molina, MariaAhimaz, PriyankaCabezas-Herrera, JuanSorli-Garcia, MoisesZibat, ArneSiegelin, Markus D.Burfeind, PeterBuchovecky, Christie M.Hasenfuss, GerdHonig, BarryLi, YunIglesias, Alejandro D.Wollnik, Bernd
- [9] Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation[J]. SCIENCE TRANSLATIONAL MEDICINE, 2022, 14 (628)Hakui, HideyukiKioka, HidetakaMiyashita, YoheiNishimura, ShunsukeMatsuoka, KenKato, HisakazuTsukamoto, OsamuKuramoto, YukiTakuwa, AyakoTakahashi, YusukeSaito, ShigeyoshiOhta, KunioAsanuma, HiroshiFu, Hai YingShinomiya, HarukiYamada, NoriakiOhtani, TomohitoSawa, YoshikiKitakaze, MasafumiTakashima, SeijiSakata, YasushiAsano, Yoshihiro
- [10] Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 102 (06) : 1018 - 1030Iuso, ArcangelaWiersma, MaritSchueller, Hans-JoachimPode-Shakked, BenMarek-Yagel, DinaGrigat, MathiasSchwarzmayr, ThomasBerutti, RiccardoAlhaddad, BaderKanon, BartGrzeschik, Nicola A.Okun, Juergen G.Perles, ZeevSalem, YishayBarel, OrtalVardi, AmirRubinshtein, MarinaTirosh, TalDubnov-Raz, GalMessias, Ana C.Terrile, CaterinaBarshack, IrisVolkov, AlexAvivi, CamillaEyal, EranMastantuono, ElisaKumbar, MuhamadAbudi, ShacharBraunisch, MatthiasStrom, Tim M.Meitinger, ThomasHoffmann, Georg F.Prokisch, HolgerHaack, Tobias B.Brundel, Bianca J. J. M.Haas, DorotheaSibon, Ody C. M.Anikster, Yair