Search filters

List of works by Alya R Raphael

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations

scientific article

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

scientific article

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

scientific article published on 19 February 2015

Exome sequencing to identify de novo mutations in sporadic ALS trios

scientific article published on 26 May 2013

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis

scientific article

Therapeutic modulation of eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models

scientific article

Paulina is supported by:

About Paulina

Help