about
Huntingtin Exists as Multiple Splice Forms in Human Brain.Specific expression of Kcna10, Pxn and Odf2 in the organ of Corti.S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse.Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain.
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Francesca Carlisle
@ast
Francesca Carlisle
@en
Francesca Carlisle
@es
Francesca Carlisle
@nl
type
label
Francesca Carlisle
@ast
Francesca Carlisle
@en
Francesca Carlisle
@es
Francesca Carlisle
@nl
prefLabel
Francesca Carlisle
@ast
Francesca Carlisle
@en
Francesca Carlisle
@es
Francesca Carlisle
@nl
P108
P106
P1153
55155909400
P31
P496
0000-0002-9734-113X