María García-Murias

TL;DR: The data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans.

TL;DR: The detailed clinical picture is described, consisting of a late-onset, slowly progressive cerebellar syndrome with variable eye movement abnormalities and sensorineural hearing loss, and the origin of the founder mutation in Galicia is estimated to have occurred ∼1275 years ago.

TL;DR: Clinico-pathologic findings suggest a novel phenotype within the emerging group of hereditary myosin myopathies, which in this family presents typical characteristics of congenital fiber type disproportion in early stages and later evolves to myOSin storage myopathy.

TL;DR: It is demonstrated that poly(GP) is more abundant in SCA36 compared to c9ALS/FTD patient tissue due to canonical AUG-mediated translation from intron-retained GGCCTG repeat RNAs, and the frequency of the antisense RAN translation product poly(PR) is comparable between c9 ALS/ FTD and SCA 36 patient samples.

TL;DR: This case shows a novel PSEN1 mutation with outstanding amnesic and frontal symptoms, which can produce Alzheimer's disease, frontotemporal dementia, and dementia with Lewy bodies phenotypes, or a combination of them.