Search Results - "Orengo, James P."

Zebrafish Models of Rare Neurological Diseases like Spinocerebellar Ataxias (SCAs): Advantages and Limitations by Sarasamma, Sreeja, Karim, Anwarul, Orengo, James P

“…Spinocerebellar ataxia (SCA) is a heterogeneous group of rare familial neurodegenerative disorders that share the key feature of cerebellar ataxia. Clinical…”
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Alternative splicing dysregulation secondary to skeletal muscle regeneration by Orengo, James P., Ward, Amanda J., Cooper, Thomas A.

“…Objective Dysregulation of alternative splicing has become a molecular hallmark of myotonic dystrophy type 1 (DM1), in which neonatal splice variants are…”
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Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy by Orengo, James P, Chambon, Pierre, Metzger, Daniel, Mosier, Dennis R, Snipes, G. Jackson, Cooper, Thomas A

“…Severe skeletal muscle wasting is the most debilitating symptom experienced by individuals with myotonic dystrophy type 1 (DM1). We present a DM1 mouse model…”
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Motor neuron degeneration correlates with respiratory dysfunction in SCA1 by Orengo, James P, van der Heijden, Meike E, Hao, Shuang, Tang, Jianrong, Orr, Harry T, Zoghbi, Huda Y

“…Spinocerebellar ataxia type 1 (SCA1) is characterized by adult-onset cerebellar degeneration with attendant loss of motor coordination. Bulbar function is…”
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bichromatic fluorescent reporter for cell-based screens of alternative splicing by Orengo, James P, Bundman, Donnie, Cooper, Thomas A

“…Alternative splicing is the primary source of proteome complexity in metazoans and its regulation shapes the proteome in response to shifting physiological…”
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Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model by Orengo, James P, Nitschke, Larissa, van der Heijden, Meike E, Ciaburri, Nicholas A, Orr, Harry T, Zoghbi, Huda Y

“…Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disorder. As disease progresses, motor neurons are affected, and their dysfunction…”
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Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1 by 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

“…Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disorder characterized by motor incoordination, mild cognitive decline, respiratory…”
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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network by 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

“…Background Resources within the Undiagnosed Diseases Network (UDN), such as genome sequencing (GS) and model organisms aid in diagnosis and identification of…”
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CNS intravascular large cell lymphoma in a patient with autoimmune hemolytic anemia by Alexandrescu, Sanda, Orengo, James P., Toossi, Shahed, Perry, Arie, Treseler, Patrick, Hess, Christopher, Margeta, Marta

“…Intravascular large cell lymphoma (IVLCL) is a rare disease characterized by proliferation of malignant lymphocytes within the small blood vessel lumens. The…”
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Overexertion-related focal ulnar neuropathy by Muppidi, Srikanth, Orengo, James P., Lutz, Amelie

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Charcot Marie Tooth disease type 4J with complex central nervous system features by Orengo, James P., Khemani, Pravin, Day, John W., Li, Jun, Siskind, Carly E.

“…We describe a family with Charcot Marie Tooth disease type 4J presenting with features of Charcot Marie Tooth disease plus parkinsonism and aphemia. Genetic…”
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Alternative splicing in disease by Orengo, James P, Cooper, Thomas A

“…Alternative splicing is a major source of diversity in the human proteome. The regulation of alternative splicingmodulates the composition of this diversity to…”
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Simultaneous serum aquaporin-4 antibody and CSF NMDA receptor antibody–positive encephalitis by Orengo, James P, Pekmezci, Melike, Cree, Bruce A.C

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Alternative splicing misregulation secondary to skeletal muscle regeneration by Orengo, James P., Ward, Amanda J., Cooper, Thomas A.

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CNS intravascular large cell lymphoma in a patient with autoimmune hemolytic anemia by Alexandrescu, Sanda, Orengo, James P., Toossi, Shahed, Perry, Arie, Treseler, Patrick, Hess, Christopher, Margeta, Marta

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