Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementia.

Autor: Soares IFZ; Department of Neurosciences, Centro Universitário Saúde ABC, Santo Andre, São Paulo, Brazil., Christofolini DM; Department of Collective health, Centro Universitário Saúde ABC, Santo Andre, São Paulo, Brazil., Silva LG; Department of Neurosciences, Centro Universitário Saúde ABC, Santo Andre, São Paulo, Brazil., Feder D; Department of Neurosciences, Centro Universitário Saúde ABC, Santo Andre, São Paulo, Brazil., de Siqueira Carvalho AA; Department of Neurosciences, Centro Universitário Saúde ABC, Santo Andre, São Paulo, Brazil.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Nov; Vol. 8 (11), pp. e1491. Date of Electronic Publication: 2020 Sep 16.

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis.

Autor: Alecu, Julian E.¹ (AUTHOR), Saffari, Afshin¹ (AUTHOR), Jumo, Hellen^1,2 (AUTHOR), Ziegler, Marvin¹ (AUTHOR), Strelko, Oleksandr^1,2 (AUTHOR), Brownstein, Catherine A.^3,4 (AUTHOR), Gonzalez‐Heydrich, Joseph^4,5 (AUTHOR), Rodan, Lance H.^1,3,4 (AUTHOR), Gorman, Mark P.¹ (AUTHOR), Sahin, Mustafa^1,2,6 (AUTHOR), Ebrahimi‐Fakhari, Darius^1,4,6,7 (AUTHOR) darius.ebrahimi‐fakhari@childrens.harvard.edu

Publikováno v: Annals of Clinical & Translational Neurology. Apr2022, Vol. 9 Issue 4, p570-576. 7p.

Long-term administration of immunoglobulin in a patient with anti-SRP immune-mediated necrotizing myopathy.

Autor: Pinheiro, Filipe Oliveira¹ filipe.pinheiro92@gmail.com, Madureira, Pedro¹, Rato, Maria Seabra¹, Costa, Lúcia¹

Publikováno v: Rheumatology / Reumatologia. 2022, Vol. 60 Issue 6, p446-447. 2p.