Associated Papers
Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Megat S et al.
Nature Communications, 2023
36670122 (PubMed )
Supplement: 41467_2022_35724_MOESM4_ESM.xlsx › Supp_data_3_iPSC_lines_used
A serum microRNA sequence reveals fragile X protein pathology in amyotrophic lateral sclerosis.
Freischmidt A et al.
Brain : a Journal of Neurology, 2021
Modeling ALS using iPSCs: is it possible to reproduce the phenotypic variations observed in patients in vitro?
Vasques JF et al.
Regenerative Medicine, 2020
A Human iPSC Line Carrying a de novo Pathogenic FUS Mutation Identified in a Patient With Juvenile ALS Differentiated Into Motor Neurons With Pathological Characteristics.
Chen L et al.
Frontiers in Cellular Neuroscience, 2020
Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis.
Naumann M et al.
Annals of Clinical and Translational Neurology, 2019
FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis.
Picchiarelli G et al.
Nature Neuroscience, 2019
Retinoic acid worsens ATG10-dependent autophagy impairment in TBK1-mutant hiPSC-derived motoneurons through SQSTM1/p62 accumulation.
Catanese A et al.
Autophagy, 2019
The role of de novo mutations in adult-onset neurodegenerative disorders.
Nicolas G et al.
Acta Neuropathologica, 2019
30478624 (PubMed )
Supplement: 401_2018_1939_MOESM1_ESM.xlsx › Supp_Table_2_FTLD_spectrum
Synaptic FUS Localization During Motoneuron Development and Its Accumulation in Human ALS Synapses.
Deshpande D et al.
Frontiers in Cellular Neuroscience, 2019
ALS-causing mutations differentially affect PGC-1α expression and function in the brain vs. peripheral tissues.
Bayer H et al.
Neurobiology of Disease, 2017
Current Advances and Limitations in Modeling ALS/FTD in a Dish Using Induced Pluripotent Stem Cells.
Guo W et al.
Frontiers in Neuroscience, 2017
FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons.
Higelin J et al.
Frontiers in Cellular Neuroscience, 2016
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.
Hübers A et al.
Neurobiology of Aging, 2015
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