Michael Niblock

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

Mubeen Khan, Gavin Arno, Ana Fakin et al. · Molecular Therapy — Nucleic Acids · 2020 · 73 citations · Full text

Investigating the role of rare coding variability in Mendelian dementia genes ( APP , PSEN1 , PSEN2 , GRN , MAPT , and PRNP ) in late-onset Alzheimer's disease

Celeste Sassi, Rita Guerreiro, J. Raphael Gibbs et al. · Neurobiology of Aging · 2014 · 66 citations · Full text

Sporadic Alzheimer, Genetics, Genetic Epidemiology +22

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

Michael Niblock, Bradley Smith, Youn‐Bok Lee et al. · Acta Neuropathologica Communications · 2016 · 65 citations · Full text

Loss of neuronal cell cycle control as a mechanism of neurodegeneration in the Presenilin-1 Alzheimer's disease brain

Bilal Malik, António Currais, Ana Andrés et al. · Cell Cycle · 2008 · 63 citations · Full text

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

Malena Daich Varela, James Bellingham, Fabiana Louise Motta et al. · Human Molecular Genetics · 2022 · 29 citations · Full text