P. Desaro

发表

C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

Kevin F. Bieniek, L. Petrucelli, M. Murray, 2015, Science.

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

Christian A. Ross, Kevin F. Bieniek, Hu Li, 2015, Nature Neuroscience.

A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration

Kevin F. Bieniek, M. Murray, D. Dickson, 2015, Acta Neuropathologica.

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

Z. Wszolek, N. Graff-Radford, J. Kocerha, 2010, Human mutation.

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

Robert H. Brown, L. Petrucelli, B. Boeve, 2014, Neuron.

Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease

Christian A. Ross, Hu Li, D. Dickson, 2017, Acta Neuropathologica.

Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank

Kevin F. Bieniek, B. Boeve, D. Dickson, 2015, Acta Neuropathologica.

Poly(Gp) Proteins Are A Useful Pharmacodynamic Marker For C9Orf72-Associated Amyotrophic Lateral Sclerosis

William T. Hu, Robert H. Brown, L. Petrucelli, 2017 .

Phosphorylated neurofilament heavy subunit (pNF-H) in peripheral blood and CSF as a potential prognostic biomarker in amyotrophic lateral sclerosis

Gerry Shaw, Jonathan D Glass, J. Glass, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

Kevin F. Bieniek, L. Petrucelli, R. Petersen, 2015, Acta Neuropathologica.

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

Peter K. Todd, Robert H. Brown, L. Petrucelli, 2014, Neuron.

Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS

N. Ertekin-Taner, O. Ross, K. Boylan, 2011, Neurology.

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

Timothy A. Miller, L. Petrucelli, J. Trojanowski, 2017, Science Translational Medicine.

Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank

B. Boeve, D. Dickson, Z. Wszolek, 2015, Acta Neuropathologica.