John F. Staropoli, Ph.D.

Affiliations: 
2005 Columbia University, New York, NY 
Area:
Molecular Mechanisms of Neurodegeneration and the Life Cycle of Dopamine Neurons, Neurobiology of Disease, Stem Cell Biology
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"John Staropoli"
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Parents

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Asa Abeliovich grad student 2005 Columbia
 (The ubiquitin ligase Parkin and its regulation of neuronal apoptosis.)
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Publications

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Berkovic SF, Staropoli JF, Carpenter S, et al. (2016) Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). Neurology
Henderson MX, Wirak GS, Zhang YQ, et al. (2015) Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation. Acta Neuropathologica
Adegbola A, Musante L, Callewaert B, et al. (2015) Redefining the MED13L syndrome. European Journal of Human Genetics : Ejhg
Cirulli ET, Lasseigne BN, Petrovski S, et al. (2015) Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science (New York, N.Y.). 347: 1436-41
Staropoli JF, Li H, Chun SJ, et al. (2015) Rescue of gene-expression changes in an induced mouse model of spinal muscular atrophy by an antisense oligonucleotide that promotes inclusion of SMN2 exon 7. Genomics. 105: 220-8
Taylor JL, Lee FK, Yazdanpanah GK, et al. (2015) Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency. Clinical Chemistry. 61: 412-9
O'Connell KE, Mikkola AM, Stepanek AM, et al. (2015) Practical murine hematopathology: A comparative review and implications for research Comparative Medicine. 65: 96-113
Lojewski X, Staropoli JF, Biswas-Legrand S, et al. (2014) Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. Human Molecular Genetics. 23: 2005-22
Cotman SL, Karaa A, Staropoli JF, et al. (2013) Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum. Current Neurology and Neuroscience Reports. 13: 366
Smith KR, Dahl HH, Canafoglia L, et al. (2013) Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Human Molecular Genetics. 22: 1417-23
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