Publications
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, “Misfolded SOD1 pathology in sporadic Amyotrophic Lateral Sclerosis.”, Sci Rep, vol. 8, no. 1, p. 14223, 2018.
, “Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis.”, Hum Mol Genet, 2016.
, “Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis.”, Hum Mol Genet, vol. 25, no. 21, pp. 4771-4786, 2016.
, “Neuroprotection through excitability and mTOR required in ALS motoneurons to delay disease and extend survival.”, Neuron, vol. 80, no. 1, pp. 80-96, 2013.
, “Intracerebroventricular infusion of monoclonal antibody or its derived Fab fragment against misfolded forms of SOD1 mutant delays mortality in a mouse model of ALS.”, J Neurochem, vol. 113, no. 5, pp. 1188-99, 2010.
, “Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS.”, Nat Neurosci, vol. 13, no. 11, pp. 1396-403, 2010.
, “Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis.”, Proc Natl Acad Sci U S A, vol. 106, no. 51, pp. 21777-82, 2009.
, “Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.”, Hum Mol Genet, vol. 17, no. 17, pp. 2691-702, 2008.
, “Alsin is partially associated with centrosome in human cells.”, Biochim Biophys Acta, vol. 1745, no. 1, pp. 84-100, 2005.
, “A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.”, J Biol Chem, vol. 279, no. 44, pp. 45951-6, 2004.
