Browse by Author "Pintos Martínez, Elena"

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Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene

2015- Beiras Iglesias, Andrés; Castro Gago, Manuel; Pintos Martínez, Elena; Dacruz Álvarez, David
Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion

2014- Beiras Iglesias, Andrés; Castro Gago, Manuel; Pintos Martínez, Elena; Dacruz Álvarez, David
Levetiracetam following liver and kidney failure in late-onset anticonvulsant hypersensitivity syndrome

2014- Pardo Fernández, Julio; Rodríguez Osorio, Xiana; Novoa García, Daniel; López González, Francisco Javier; Pintos Martínez, Elena [et al.]
Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant.

2011- Castro Gago, Manuel; Gómez Lado, María del Carmen; Perez Gay, Laura; Eiris Puñal, Jesús; Pintos Martínez, Elena [et al.]
Unilateral calf atrophy secondary to a de novo mutation of the caveolin-3 gene.

2011- Arias Gómez, Manuel; Arias Rivas, Susana; Dapena Bolaño, Dolores; Navarro Fernández-Balbuena, Carmen; Pintos Martínez, Elena; [et al.]