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• lamont pJ, WalleFelD W, Hilton-Jones D, uDD b, arGoV z, barboi ac, bonneman c, boycott Km, busHby K, connolly am, DaVies n, beGGs aH, cox GF, DastGir J, DecHene et, GooDinG r, JunGblutH H, muelas n, palmio J, penttilä s, scHmeDDinG e, suominen t, straub V, staples c, Van Den berGH py, VilcHez JJ, WaGner Kr, WHeeler pG, WraiGe e, lainG nG. Novel mutations widen the phenotypic spectrum of slow skeletal/ß- cardiac myosin (MYH7) distal myopathy . Hum Mutat; 2014 Jul . 35(7):868-79 . PMID: 24664454 Doi: 10 .1002/humu .22553 .
• pérez-GarriGues H, siVera r, VílcHez JJ, espinós c, palau F, seVilla t. Vestibular impairment in Charcot- Marie-Tooth disease type 4C . J Neurol Neurosurg Psychiatry; 2014 Jul . 85(7):824-7 . PMID: 24614092 Doi: 10 .1136/jnnp-2013-307421 .
• KornaK u, maDeman i, scHinKe m, VoiGt m, KraWitz p, HecHt J, barVenciK F, scHinKe t, Giesselmann s, beil Ft, pou-serraDell a, VílcHez JJ, beetz c, DeconincK t, timmerman V, KaetHer c, De JonGHe p, Hübner ca, Gal a, amlinG m, munDlos s, baets J, KurtH i. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3 . Brain; 2014 Mar . 137(Pt 3):683-92 . PMID: 24459106 Doi: 10 .1093/brain/awt357 .
• sabater l, GaiG c, Gelpi e, bataller l, leWerenz J, torres-VeGa e, contreras a, Giometto b, compta y, embiD c, Vilaseca i, iranzo a, santamaría J, Dalmau J, Graus F. A novel non-rapid-eye movement and rapid-eye- movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study . Lancet Neurol; 2014 Jun . 13(6):575- 86 . PMID: 24703753 Doi: 10 .1016/S1474-4422(14)70051-1 .
• petit-peDrol m, armanGue t, penG x, bataller l, cellucci t, DaVis r, mccracKen l, martinez-HernanDez e, ma- son Wp, Kruer mc, ritacco DG, GrisolD W, meaney bF, alcalá c, silleVis-smitt p, titulaer mJ, balice-GorDon r, Graus F, Dalmau J. Encephalitis with refractory seizures, status epilepticus, and antibodies to the GA- BAA receptor: a case series, characterisation of the antigen, and analysis of the effects of antibodies . Lancet Neurol; 2014 Mar . 13(3):276-86 . PMID: 24462240 Doi: 10 .1016/S1474-4422(13)70299-0 .
Institución: Fundación para la Investigación del Hospital la Fe Contacto: Hospital Universitario de La Fe . Avda Fernando Abril Martorell, 106 . 46009 Valencia
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