Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy
Orengo, James P, Chambon, Pierre, Metzger, Daniel, Mosier, Dennis R, Snipes, G. Jackson, Cooper, Thomas A
Published in Proceedings of the National Academy of Sciences - PNAS (19.02.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (19.02.2008)
Get full text
Journal Article
Motor neuron degeneration correlates with respiratory dysfunction in SCA1
Orengo, James P, van der Heijden, Meike E, Hao, Shuang, Tang, Jianrong, Orr, Harry T, Zoghbi, Huda Y
Published in Disease models & mechanisms (01.02.2018)
Published in Disease models & mechanisms (01.02.2018)
Get full text
Journal Article
Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model
Orengo, James P, Nitschke, Larissa, van der Heijden, Meike E, Ciaburri, Nicholas A, Orr, Harry T, Zoghbi, Huda Y
Published in JCI insight (22.04.2022)
Published in JCI insight (22.04.2022)
Get full text
Journal Article
Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1
Nitschke, Larissa, Coffin, Stephanie L, Xhako, Eder, El-Najjar, Dany B, Orengo, James P, Alcala, Elizabeth, Dai, Yanwan, Wan, Ying-Wooi, Liu, Zhandong, Orr, Harry T, Zoghbi, Huda Y
Published in JCI insight (08.02.2021)
Published in JCI insight (08.02.2021)
Get full text
Journal Article
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network
Cope, Heidi, Spillmann, Rebecca, Rosenfeld, Jill A., Brokamp, Elly, Signer, Rebecca, Schoch, Kelly, Kelley, Emily G., Sullivan, Jennifer A., Macnamara, Ellen, Lincoln, Sharyn, Golden‐Grant, Katie, Orengo, James P., Clark, Gary, Burrage, Lindsay C., Posey, Jennifer E., Punetha, Jaya, Robertson, Amy, Cogan, Joy, Phillips, John A., Martinez‐Agosto, Julian, Shashi, Vandana
Published in Molecular genetics & genomic medicine (01.10.2020)
Published in Molecular genetics & genomic medicine (01.10.2020)
Get full text
Journal Article
CNS intravascular large cell lymphoma in a patient with autoimmune hemolytic anemia
Alexandrescu, Sanda, Orengo, James P., Toossi, Shahed, Perry, Arie, Treseler, Patrick, Hess, Christopher, Margeta, Marta
Published in Neuropathology (01.04.2015)
Published in Neuropathology (01.04.2015)
Get full text
Journal Article
Charcot Marie Tooth disease type 4J with complex central nervous system features
Orengo, James P., Khemani, Pravin, Day, John W., Li, Jun, Siskind, Carly E.
Published in Annals of clinical and translational neurology (01.02.2018)
Published in Annals of clinical and translational neurology (01.02.2018)
Get full text
Journal Article