Search Results - "Karachunski, Peter I."

One Year Outcome of Boys With Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development by Connolly, Anne M., MD, Florence, Julaine M., PT, DPT, Cradock, Mary M., PHD, Eagle, Michelle, PhD, MSc, MCSP, Flanigan, Kevin M., MD, McDonald, Craig M., MD, Karachunski, Peter I., MD, Darras, Basil T., MD, Bushby, Kate, MD, Malkus, Elizabeth C., PT, MHS, Golumbek, Paul T., MD, PhD, Zaidman, Craig M., MD, Miller, J. Philip, PhD, Mendell, Jerry R., MD

“…Abstract Background The pathogenesis of Duchenne muscular dystrophy starts before birth. Despite this, clinical trials exclude young boys because traditional…”
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De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects by Slavotinek, Anne, Risolino, Maurizio, Losa, Marta, Cho, Megan T, Monaghan, Kristin G, Schneidman-Duhovny, Dina, Parisotto, Sarah, Herkert, Johanna C, Stegmann, Alexander P A, Miller, Kathryn, Shur, Natasha, Chui, Jacqueline, Muller, Eric, DeBrosse, Suzanne, Szot, Justin O, Chapman, Gavin, Pachter, Nicholas S, Winlaw, David S, Mendelsohn, Bryce A, Dalton, Joline, Sarafoglou, Kyriakie, Karachunski, Peter I, Lewis, Jane M, Pedro, Helio, Dunwoodie, Sally L, Selleri, Licia, Shieh, Joseph

“…We present eight patients with de novo, deleterious sequence variants in the PBX1 gene. PBX1 encodes a three amino acid loop extension (TALE) homeodomain…”
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Outcome reliability in non-Ambulatory Boys/Men with duchenne muscular dystrophy by Connolly, Anne M., Malkus, Elizabeth C., Mendell, Jerry R., Flanigan, Kevin M., Miller, J. Philip, Schierbecker, Jeanine R., Siener, Catherine A., Golumbek, Paul T., Zaidman, Craig M., Mcdonald, Craig M., Johnson, Linda, Nicorici, Alina, Karachunski, Peter I., Day, John W., Kelecic, Jason M., Lowes, Linda P., Alfano, Lindsay N., Darras, Basil T., Kang, Peter B., Quigley, Janet, Pasternak, Amy E., Florence, Julaine M.

“…ABSTRACT Introduction: Therapeutic trials in Duchenne muscular dystrophy (DMD) often exclude non‐ambulatory individuals. Here we establish optimal and reliable…”
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Infantile epileptic encephalopathy associated with SCN2A mutation responsive to oral mexiletine by Foster, Laura A, Johnson, Maria R, MacDonald, John T, Karachunski, Peter I, Henry, Thomas R, Nascene, David R, Moran, Brian P, Raymond, Gerald V

“…Abstract Background Genetic alterations are significant causes of epilepsy syndromes, especially early onset epileptic encephalopathies, and voltage-gated…”
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Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network by Connolly, Anne M, Florence, Julaine M, Cradock, Mary M, Malkus, Elizabeth C, Schierbecker, Jeanine R, Siener, Catherine A, Wulf, Charlie O, Anand, Pallavi, Golumbek, Paul T, Zaidman, Craig M, Philip Miller, J, Lowes, Linda P, Alfano, Lindsay N, Viollet-Callendret, Laurence, Flanigan, Kevin M, Mendell, Jerry R, McDonald, Craig M, Goude, Erica, Johnson, Linda, Nicorici, Alina, Karachunski, Peter I, Day, John W, Dalton, Joline C, Farber, Janey M, Buser, Karen K, Darras, Basil T, Kang, Peter B, Riley, Susan O, Shriber, Elizabeth, Parad, Rebecca, Bushby, Kate, Eagle, Michelle

“…Abstract Therapeutic trials in Duchenne Muscular Dystrophy (DMD) exclude young boys because traditional outcome measures rely on cooperation. The Bayley III…”
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Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up by Connolly, Anne M., Florence, Julaine M., Zaidman, Craig M., Golumbek, Paul T., Mendell, Jerry R., Flanigan, Kevin M., Karachunski, Peter I., Day, John W., McDonald, Craig M., Darras, Basil T., Kang, Peter B., Siener, Catherine A., Gadeken, Rebecca K., Anand, Pallavi, Schierbecker, Jeanine R., Malkus, Elizabeth C., Lowes, Linda P., Alfano, Lindsay N., Johnson, Linda, Nicorici, Alina, Kelecic, Jason M., Quigley, Janet, Pasternak, Amy E., Miller, J. Philip

“…ABSTRACT Introduction: Outcomes sensitive to change over time in non‐ambulatory boys/men with Duchenne muscular dystrophy (DMD) are not well‐established…”
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Acute Transverse Myelitis Caused by Echovirus 11 in a Pediatric Patient: Case Report and Review of the Current Literature by Moline, Heidi L., Karachunski, Peter I., Strain, Anna, Griffith, Jayne, Kenyon, Cynthia, Schleiss, Mark R.

“…A 12-year-old boy presented with acute flaccid weakness of the right upper extremity and was found to have acute flaccid myelitis with transverse myelitis…”
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Human and rodent bronchial epithelial cells express functional nicotinic acetylcholine receptors by Maus, A D, Pereira, E F, Karachunski, P I, Horton, R M, Navaneetham, D, Macklin, K, Cortes, W S, Albuquerque, E X, Conti-Fine, B M

“…We demonstrated previously that human skin keratinocytes express acetylcholine receptors (AChRs) sensitive to acetylcholine and nicotine, which regulate cell…”
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Transgenic Expression of IL-10 in T Cells Facilitates Development of Experimental Myasthenia Gravis by Ostlie, Norma S, Karachunski, Peter I, Wang, Wei, Monfardini, Cristina, Kronenberg, Mitchell, Conti-Fine, Bianca M

“…Ab to the acetylcholine receptor (AChR) cause experimental myasthenia gravis (EMG). Th1 cytokines facilitate EMG, whereas Th2 cytokines might be protective…”
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Median nerve ultrasound: A screening tool in aiding diagnosis of carpal tunnel syndrome in MPS I patients by Karachunski, Peter I., Van Heest, Ann, Palzer, Elise, Orchard, Paul J.

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Interleukin-4 deficiency facilitates development of experimental myasthenia gravis and precludes its prevention by nasal administration of CD4 + epitope sequences of the acetylcholine receptor by Karachunski, Peter I, Ostlie, Norma S, Okita, David K, Conti-Fine, Bianca M

“…Immunization with acetylcholine receptor (AChR) causes experimental myasthenia gravis (EMG). We investigated EMG in interleukin (IL)-4 knock out B6 (KO) mice,…”
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Adoptive protection from experimental myasthenia gravis with T cells from mice treated nasally with acetylcholine receptor epitopes by Monfardini, Cristina, Milani, Monica, Ostlie, Norma, Wang, Wei, Karachunski, Peter I., Okita, David K., Lindstrom, Jon, Conti-Fine, Bianca M.

“…Nasal administration of synthetic CD4 + epitopes of the acetylcholine receptor (AChR) prevents experimental myasthenia gravis (EMG) in C57Bl/6 mice, but not in…”
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Subcutaneous administration of T-epitope sequences of the acetylcholine receptor prevents experimental myasthenia gravis by Karachunski, Peter I, Ostlie, Norma S, Okita, David K, Garman, Richard, Conti-Fine, Bianca M

“…Immunization with acetylcholine receptor (AChR) causes experimental myasthenia gravis (EMG). The s.c. administration to C57Bl/6 mice of synthetic AChR CD4 +…”
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ADRB2 Variations do not Influence Body Composition in Duchenne Muscular Dystrophy by Kelley, Eli F, Uithoven, Katelyn E, Zavala, Hanan, Karachunski, Peter I, Snyder, Eric M

“…Abstract only Introduction Duchenne muscular dystrophy (DMD) is an inherited x‐link disease caused by the deletion of the dystrophin gene. DMD is characterized…”
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Placebo‐controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy by McDonald, Craig M., Wong, Brenda, Flanigan, Kevin M., Wilson, Rosamund, Kimpe, Sjef, Lourbakos, Afrodite, Lin, Zhengning, Campion, Giles, Iannaccone, Susan T., Karachunski, Peter I., Mathews, Katherine D., Henricson, Erik K., Joyce, Nanette C., Pestronk, Alan, Renfoe, James B., Russman, Barry S., Smith, Edward C., So, Yuen T., Wang, Ching H., Day, John W., Sproule, Douglas M., Wagner, Kathryn R.

“…Objective This double‐blind, randomized, placebo‐controlled Phase 2 study (NCT01462292) assessed the 24‐week efficacy, safety, tolerability, and…”
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Acute Transverse Myelitis Caused by Echovirus 11 in a Pediatric Patient by Moline, Heidi L, Karachunski, Peter I, Strain, Anna, Griffith, Jayne, Kenyon, Cynthia, Schleiss, Mark R

“…A 12-year-old boy presented with acute flaccid weakness of the right upper extremity and was found to have acute flaccid myelitis with transverse myelitis…”
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Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up: Twelve and 24-Month Outcomes in DMD by Connolly, Anne M., Florence, Julaine M., Zaidman, Craig M., Golumbek, Paul T., Mendell, Jerry R., Flanigan, Kevin M., Karachunski, Peter I., Day, John W., McDonald, Craig M., Darras, Basil T., Kang, Peter B., Siener, Catherine A., Gadeken, Rebecca K., Anand, Pallavi, Schierbecker, Jeanine R., Malkus, Elizabeth C., Lowes, Linda P., Alfano, Lindsay N., Johnson, Linda, Nicorici, Alina, Kelecic, Jason M., Quigley, Janet, Pasternak, Amy E., Miller, J. Philip

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Absence of IFN-gamma or IL-12 has different effects on experimental myasthenia gravis in C57BL/6 mice by Karachunski, P I, Ostlie, N S, Monfardini, C, Conti-Fine, B M

“…Immunization with acetylcholine receptor (AChR) causes experimental myasthenia gravis (EMG). Th1 cells facilitate EMG development. IFN-gamma and IL-12 induce…”
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Prevention of experimental myasthenia gravis by nasal administration of synthetic acetylcholine receptor T epitope sequences by Karachunski, P I, Ostlie, N S, Okita, D K, Conti-Fine, B M

“…T cell tolerization prevents and improves T cell-mediated experimental autoimmune diseases. We investigated here whether similar approaches could be used for…”
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Myasthenia in SCID mice grafted with myasthenic patient lymphocytes role of CD4+ and CD8+ cells by WANG, Z.-Y, KARACHUNSKI, P. I, HOWARD, J. F, CONTI-FINE, B. M

“…Acetylcholine receptor (AChR)-specific CD4+ cells are present in MG patients, and synthesis of the high-affinity immunoglobulin G (IgG) autoantibodies (autoAb)…”
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