Ruxandra Mutihac

Publications by Year

Research Areas

Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Pluripotent Stem Cells Research, Parkinson's Disease Mechanisms and Treatments, Prion Diseases and Protein Misfolding

Most-Cited Works

• → LRRK2 regulates autophagic activity and localizes to specific membrane microdomains in a novel human genomic reporter cellular model(2009)431 cited
• → TARDBP pathogenic mutations increase cytoplasmic translocation of TDP-43 and cause reduction of endoplasmic reticulum Ca2+ signaling in motor neurons(2014)56 cited
• → Modelling amyotrophic lateral sclerosis (ALS) using mutant and CAS9/CRISPR-corrected motor neurons from patients with C9ORF72 mutations reveals disease-specific cellular phenotypes(2015)6 cited
• → Cytoplasmic Redistribution of Mutant TDP-43 in a BAC Based Mouse Model of Amyotrophic Lateral Sclerosis (P3.012)(2014)1 cited
• TDP-43 is cytoplasmically mislocalized and associated with impaired stress responses and survival of primary neurons from symptomatic amyotrophic lateral sclerosis (ALS) mice(2016)
• C9orf72 Hexanucleotide Expansion Mutations Alter Calcium Signalling in ALS-FTD Patient iPSC-Derived Motor Neurons(2014)
• Absence of wide-spread mis-splicing in the preclinical phase of a native promoter driven TDP-43 mouse model of ALS(2016)
• → Development of LNA gapmer oligonucleotide based therapy for FTD/ALS caused by the C9orf72 repeat expansion(2015)
• → Cytoplasmic Redistribution of Mutant TDP-43 in a BAC Based Mouse Model of Amyotrophic Lateral Sclerosis (I11-1.007)(2014)
• → In vitro transgenic models to elucidate the molecular mechanisms of TDP-43 pathology in amyotrophic lateral sclerosis(2013)