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John F Staropoli

Showing results (11-20 of 30) with videos related to

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Plos One|March 2, 2011
Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cellsYi Cao, John F Staropoli, Sunita Biswas, et al.
Annals of Clinical and Translational Neurology|May 15, 2021
Increased systemic HSP70B levels in spinal muscular atrophy infantsEric J Eichelberger, Christiano R R Alves, Ren Zhang, et al.
Comparative Medicine|May 1, 2015
Practical murine hematopathology: a comparative review and implications for researchKaryn E O'Connell, Amy M Mikkola, Aaron M Stepanek, et al.
Clinical Chemistry|December 16, 2014
Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiencyJennifer L Taylor, Francis K Lee, Golriz Khadem Yazdanpanah, et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|February 2, 2012
SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experienceJeffrey A Brown, Jionghong Min, John F Staropoli, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 9, 2017
SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damageMohini Jangi, Christina Fleet, Patrick Cullen, et al.
Plos One|January 12, 2012
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other familiesMilen Velinov, Natalia Dolzhanskaya, Michael Gonzalez, et al.
Genomics|February 4, 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 7John F Staropoli, Huo Li, Seung J Chun, et al.
Acta Neuropathologica|December 15, 2015
Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylationMichael X Henderson, Gregory S Wirak, Yong-Quan Zhang, et al.
American Journal of Human Genetics|July 4, 2012
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome systemJohn F Staropoli, Amel Karaa, Elaine T Lim, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
Plos One|March 2, 2011
Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cellsYi Cao, John F Staropoli, Sunita Biswas, et al.
Annals of Clinical and Translational Neurology|May 15, 2021
Increased systemic HSP70B levels in spinal muscular atrophy infantsEric J Eichelberger, Christiano R R Alves, Ren Zhang, et al.
Comparative Medicine|May 1, 2015
Practical murine hematopathology: a comparative review and implications for researchKaryn E O'Connell, Amy M Mikkola, Aaron M Stepanek, et al.
Clinical Chemistry|December 16, 2014
Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiencyJennifer L Taylor, Francis K Lee, Golriz Khadem Yazdanpanah, et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|February 2, 2012
SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experienceJeffrey A Brown, Jionghong Min, John F Staropoli, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 9, 2017
SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damageMohini Jangi, Christina Fleet, Patrick Cullen, et al.
Plos One|January 12, 2012
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other familiesMilen Velinov, Natalia Dolzhanskaya, Michael Gonzalez, et al.
Genomics|February 4, 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 7John F Staropoli, Huo Li, Seung J Chun, et al.
Acta Neuropathologica|December 15, 2015
Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylationMichael X Henderson, Gregory S Wirak, Yong-Quan Zhang, et al.
American Journal of Human Genetics|July 4, 2012
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome systemJohn F Staropoli, Amel Karaa, Elaine T Lim, et al.
Pageof 3