Autoimmune Neuromuscular Disorders in Childhood

por McMillan, Hugh J., Darras, Basil T., Kang, Peter B.
Publicado 2011

Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes

por Kho, Alvin T, Kang, Peter B, Kohane, Isaac S, Kunkel, Louis M
Publicado 2006

Emery‐Dreifuss muscular dystrophy

por Heller, Scott A., Shih, Renata, Kalra, Raghav, Kang, Peter B.
Publicado 2019

Peripheral neuropathies associated with DNA repair disorders

por Maguina, Melissa, Kang, Peter B., Tsai, Ang‐Chen, Pacak, Christina A.
Publicado 2022

The ties that bind: functional clusters in limb-girdle muscular dystrophy

por Barton, Elisabeth R., Pacak, Christina A., Stoppel, Whitney L., Kang, Peter B.
Publicado 2020

The Notch signaling pathway in skeletal muscle health and disease

por Vargas‐Franco, Dorianmarie, Kalra, Raghav, Draper, Isabelle, Pacak, Christina A., Asakura, Atsushi, Kang, Peter B.
Publicado 2022

Clinical, electrophysiological, and imaging findings in childhood brachial plexus injury

por Portwood, Katherin E., Albayram, Mehmet S., Stone, Sarah, Zingariello, Carla D., Sladky, John T., Chim, Harvey, Kang, Peter B.
Publicado 2022

AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome

por Suzuki-Hatano, Silveli, Saha, Madhurima, Soustek, Meghan S., Kang, Peter B., Byrne, Barry J., Cade, W. Todd, Pacak, Christina A.
Publicado 2019

LGMD2I in a North American population

por Kang, Peter B, Feener, Chris A, Estrella, Elicia, Thorne, Marielle, White, Alexander J, Darras, Basil T, Amato, Anthony A, Kunkel, Louis M
Publicado 2007

Increased mtDNA Abundance and Improved Function in Human Barth Syndrome Patient Fibroblasts Following AAV-TAZ Gene Delivery

por Suzuki-Hatano, Silveli, Sriramvenugopal, Mughil, Ramanathan, Manash, Soustek, Meghan, Byrne, Barry J., Cade, W. Todd, Kang, Peter B., Pacak, Christina A.
Publicado 2019

Megf10 deficiency impairs skeletal muscle stem cell migration and muscle regeneration

por Li, Chengcheng, Vargas‐Franco, Dorianmarie, Saha, Madhurima, Davis, Rachel M., Manko, Kelsey A., Draper, Isabelle, Pacak, Christina A., Kang, Peter B.
Publicado 2020

One episode of low intensity aerobic exercise prior to systemic AAV9 administration augments transgene delivery to the heart and skeletal muscle

por Pacak, Christina A., Suzuki-Hatano, Silveli, Khadir, Fatemeh, Daugherty, Audrey L., Sriramvenugopal, Mughil, Gosiker, Bennett J., Kang, Peter B., Cade, William Todd
Publicado 2023

The human macrophage mannose receptor directs Mycobacterium tuberculosis lipoarabinomannan-mediated phagosome biogenesis

por Kang, Peter B., Azad, Abul K., Torrelles, Jordi B., Kaufman, Thomas M., Beharka, Alison, Tibesar, Eric, DesJardin, Lucy E., Schlesinger, Larry S.
Publicado 2005

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

por Boyden, Steven E, Duncan, Anna R, Estrella, Elicia A, Lidov, Hart GW, Mahoney, Lane J, Katz, Jonathan S, Kunkel, Louis M, Kang, Peter B
Publicado 2011

Regulation of DMD pathology by an ankyrin-encoded miRNA

por Alexander, Matthew S, Casar, Juan Carlos, Motohashi, Norio, Myers, Jennifer A, Eisenberg, Iris, Gonzalez, Robert T, Estrella, Elicia A, Kang, Peter B, Kawahara, Genri, Kunkel, Louis M
Publicado 2011

Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing

por Jones, Takako I, Yan, Chi, Sapp, Peter C, McKenna-Yasek, Diane, Kang, Peter B, Quinn, Colin, Salameh, Johnny S, King, Oliver D, Jones, Peter L
Publicado 2014

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum

por Holling, Tess, Nampoothiri, Sheela, Tarhan, Bedirhan, Schneeberger, Pauline E., Vinayan, Kollencheri Puthenveettil, Yesodharan, Dhanya, Roy, Arun Grace, Radhakrishnan, Periyasamy, Alawi, Malik, Rhodes, Lindsay, Girisha, Katta Mohan, Kang, Peter B., Kutsche, Kerstin
Publicado 2022

Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network

por Kang, Peter B., Jorand-Fletcher, Magali, Zhang, Wanfang, McDermott, Suzanne W., Berry, Reba, Chambers, Chelsea, Wong, Kristen N., Mohamed, Yara, Thomas, Shiny, Venkatesh, Y Swamy, Westfield, Christina, Whitehead, Nedra, Johnson, Nicholas E.
Publicado 2023

Cover

por Bruels, Christine C., Li, Chengcheng, Mendoza, Tonatiuh, Khan, Jamillah, Reddy, Hemakumar M., Estrella, Elicia A., Ghosh, Partha S., Darras, Basil T., Lidov, Hart G. W., Pacak, Christina A., Kunkel, Louis M., Modave, François, Draper, Isabelle, Kang, Peter B.
Publicado 2019

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites

por Bruels, Christine C., Li, Chengcheng, Mendoza, Tonatiuh, Khan, Jamillah, Reddy, Hemakumar M., Estrella, Elicia A., Ghosh, Partha S., Darras, Basil T., Lidov, Hart G. W., Pacak, Christina A., Kunkel, Louis M., Modave, François, Draper, Isabelle, Kang, Peter B.
Publicado 2019