Pedro-Filipe Teixeira

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy

Yeshaya Langer, Adi Avniel Aran, Süleyman Gülsüner, Bassam Abu Libdeh et autres

Objective To identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. Methods Identification of the underlying mutations by whole exome and whole genome sequencing. Consequences were examined in …

il, us, it, gb, se (code pays fourni par la source)

Remission of primary hyperaldosteronism consequent on adrenal venography.

Pedro-Filipe Teixeira, D. E. Dwyer, Geoffrey W. Viol