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Neurobiology of Disease|May 22, 2020
ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neuronsSandra Harjuhaahto, Tiina S Rasila, Svetlana M Molchanova, et al.
Frontiers in Cell and Developmental Biology|March 3, 2022
Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor NeuronsMarkus T Sainio, Tiina Rasila, Svetlana M Molchanova, et al.
Human Molecular Genetics|February 4, 2017
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegiaHelen M Cooper, Yang Yang, Emil Ylikallio, et al.
Muscle & Nerve|September 25, 2018
Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathyKristin Samuelsson, Ana Radovic, Rayomand Press, et al.
Neuromolecular Medicine|November 18, 2015
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory NeuropathySaranya Suriyanarayanan, Mari Auranen, Jussi Toppila, et al.
American Journal of Human Genetics|May 10, 2011
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathyAlexandra Götz, Henna Tyynismaa, Liliya Euro, et al.
Human Molecular Genetics|July 27, 2010
Mitochondrial myopathy induces a starvation-like responseHenna Tyynismaa, Christopher J Carroll, Nuno Raimundo, et al.
Human Molecular Genetics|July 27, 2012
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathyJenni M Elo, Srujana S Yadavalli, Liliya Euro, et al.
Human Molecular Genetics|October 12, 2021
Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolismSebastian Kenvin, Ruben Torregrosa-Muñumer, Marco Reidelbach, et al.
Cell Metabolism|January 10, 2012
Somatic progenitor cell vulnerability to mitochondrial DNA mutagenesis underlies progeroid phenotypes in Polg mutator miceKati J Ahlqvist, Riikka H Hämäläinen, Shuichi Yatsuga, et al.
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