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List of works by Emilia Servián-Morilla

A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.

scientific article

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain

scientific article published on 26 July 2018

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

scientific article published on 01 March 2019

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

scientific article published on 13 September 2018

Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi).

scientific article published in September 2017

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

scientific article published on 14 October 2019

Presenilin/γ-Secretase Regulates Neurexin Processing at Synapses ⬇️

scientific article published on April 29, 2011

Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release.

scientific article published on 11 December 2017

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