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收藏Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment
Harazi, Avi; Yakovlev, Lena; Ilouz, Nili; Selke, Philipp; Horstkorte, Rudiger; Fellig, Yakov; Lahat, Olga; Lifschytz, Tzuri; Abudi, Nathalie; Abramovitch, Rinat; Argov, Zohar; Mitrani-Rosenbaum, Stella
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收藏Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype
Benyamini, Hadar; Kling, Yehuda; Yakovlev, Lena; Cohen, Michal Becker; Nevo, Yuval; Elgavish, Sharona; Harazi, Avi; Argov, Zohar; Sela, Ilan; Mitrani-Rosenbaum, Stella
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收藏Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF
Lazar, Csilla H.; Kimchi, Adva; Namburi, Prasanthi; Mutsuddi, Mousumi; Zelinger, Lina; Beryozkin, Avigail; Ben-Simhon, Shiran; Obolensky, Alexey; Ben-Neriah, Ziva; Argov, Zohar; Pikarsky, Eli; Fellig, Yakov; Marks-Ohana, Devorah; Ratnapriya, Rinki; Banin, Eyal; Sharon, Dror; Swaroop, Anand
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收藏Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/-Cardiac Myosin (MYH7) Distal Myopathy
Lamont, Phillipa J.; Wallefeld, William; Hilton-Jones, David; Udd, Bjarne; Argov, Zohar; Barboi, Alexandru C.; Bonneman, Carsten; Boycott, Kym M.; Bushby, Kate; Connolly, Anne M.; Davies, Nicholas; Beggs, Alan H.; Cox, Gerald F.; Dastgir, Jahannaz; DeChene, Elizabeth T.; Gooding, Rebecca; Jungbluth, Heinz; Muelas, Nuria; Palmio, Johanna; Penttila, Sini; Schmedding, Eric; Suominen, Tiina; Straub, Volker; Staples, Christopher; Van den Bergh, Peter Y. K.; Vilchez, Juan J.; Wagner, Kathryn R.; Wheeler, Patricia G.; Wraige, Elizabeth; Laing, Nigel G.
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收藏A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity
Zeigler, Marsha; Meiner, Vardiella; Newman, J. P.; Steiner-Birmanns, Bettina; Bargal, Ruth; Sury, Vivi; Mengistu, Getu; Kakhlon, Or; Leyldn, Ina; Argov, Zohar; Abramsky, Oded; Lossos, Alexander
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收藏Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations
Tajsharghi, Homa; Hammans, Simon; Lindberg, Christopher; Lossos, Alexander; Clarke, Nigel F.; Mazanti, Ingrid; Waddell, Leigh B.; Fellig, Yakov; Foulds, Nicola; Katifi, Haider; Webster, Richard; Raheem, Olayinka; Udd, Bjarne; Argov, Zohar; Oldfors, Anders
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收藏Variable Phenotypes of Knockin Mice Carrying the M712T Gne Mutation
Sela, Ilan; Yakovlev, Lena; Cohen, Michal Becker; Elbaz, Moran; Yanay, Nurit; Ben Shlomo, Uri; Yotvat, Hagit; Fellig, Yakov; Argov, Zohar; Mitrani-Rosenbaum, Stella
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