Associated Papers
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
Khani M et al.
Molecular Neurodegeneration, 2022
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis.
Liu YX et al.
Frontiers in Pediatrics, 2021
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.
Blumenau S et al.
Scientific Reports, 2020
Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice.
Takano T et al.
Kidney International, 2019
Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.
Liu J et al.
Frontiers of Medicine, 2017
Cellular and molecular modifier pathways in tauopathies: the big picture from screening invertebrate models.
Hannan SB et al.
Journal of Neurochemistry, 2016
A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood.
Tsvetkov D et al.
Clinical Medicine Insights. Case Reports, 2016
Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.
Vardarajan BN et al.
Annals of Neurology, 2015
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.
Joshi S et al.
Acta Paediatrica (oslo, Norway : 1992), 2013
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
Al-Hamed MH et al.
Journal of Human Genetics, 2013
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.
Benoit G et al.
Pediatric Nephrology (berlin, Germany), 2010
CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).
Gigante M et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009