Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2
MANKODI, Ami, URBINATI, Carl R, YUAN, Qiu-Ping, MOXLEY, Richard T, SANSONE, Valeria, KRYM, Matt, HENDERSON, Donald, SCHALLING, Martin, SWANSON, Maurice S, THORNTON, Charles A
Published in Human molecular genetics (15.09.2001)
Published in Human molecular genetics (15.09.2001)
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Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG Repeat
Mankodi, Ami, Logigian, Eric, Callahan, Linda, McClain, Carolyn, White, Robert, Henderson, Don, Krym, Matt, Thornton, Charles A.
Published in Science (American Association for the Advancement of Science) (08.09.2000)
Published in Science (American Association for the Advancement of Science) (08.09.2000)
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P.13.9 Acoustic radiation force impulse imaging for the differentiation of muscle tissue stiffness in neuromuscular disorders
Dastgir, J, Vuillerot, C, Harrison, K, Poon, A, Donkervoort, S, Leach, M, Jain, M, Meilleur, K, Rutkowski, A, Mankodi, A, Bonnemann, C
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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P.15.3 Effects of ZASP mutations on Z-disc proteins associated with myofibrillar myopathy in skeletal muscle
Lin, X, Brubaker, L, Bajraktari, I, Ohman, R, Griggs, R, Fischbeck, K, Mankodi, A
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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P.15.4 ZASP–sZM mutations in myofibrillar myopathy cause skeletal muscle Z-disc disruption by disassembling α -actinin cross-linked skeletal actin filaments
Lin, X, Ruiz, J, Bajraktari, I, Banerjee, S, Gribble, K, Griggs, R, Fischbeck, K, Mankodi, A
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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G.O.10
Mankodi, A, Janiczek, R, Froeling, M, Azzabou, N, Gaur, L, Stock, D, Evers, R, Bishop, C, Yao, L, Grunseich, C, Arai, A, Carlier, P, Fischbeck, K
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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G.P.82 ‘Double Trouble’: Diagnostic challenges in DMD in patients with an additional hereditary skeletal dysplasia
Donkervoort, S, Tesi-Rocha, C, Schreiber, A, Schindler, A, Leach, M.E, Zurcher, V, Hu, Y, Mankodi, A, Friedman, N.R, Bonnemann, C.G
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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P.84Impaired cargo-selective autophagy due to altered signaling causes the Z-disc myofibrillar disintegration in myofibrillar myopathy due to LDB3-A165V mutation in a knock-in mouse model
Pathak, P., Blech-Hermoni, Y., Subedi, K., Mpamugo, J., Obeng-Nyarko, C., Mankodi, A.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
Jiang, Hong, Mankodi, Ami, Swanson, Maurice S., Moxley, Richard T., Thornton, Charles A.
Published in Human molecular genetics (15.12.2004)
Published in Human molecular genetics (15.12.2004)
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Consensus-based care recommendations for adults with myotonic dystrophy type 1
Ashizawa, Tetsuo, Gagnon, Cynthia, Groh, William J, Gutmann, Laurie, Johnson, Nicholas E, Meola, Giovanni, Moxley, 3rd, Richard, Pandya, Shree, Rogers, Mark T, Simpson, Ericka, Angeard, Nathalie, Bassez, Guillaume, Berggren, Kiera N, Bhakta, Deepak, Bozzali, Marco, Broderick, Ann, Byrne, Janice L B, Campbell, Craig, Cup, Edith, Day, John W, De Mattia, Elisa, Duboc, Denis, Duong, Tina, Eichinger, Katy, Ekstrom, Anne-Berit, van Engelen, Baziel, Esparis, Belen, Eymard, Bruno, Ferschl, Marla, Gadalla, Shahinaz M, Gallais, Benjamin, Goodglick, Todd, Heatwole, Chad, Hilbert, James, Holland, Venessa, Kierkegaard, Marie, Koopman, Wilma J, Lane, Kari, Maas, Daphne, Mankodi, Ami, Mathews, Katherine D, Monckton, Darren G, Moser, David, Nazarian, Saman, Nguyen, Linda, Nopoulos, Peg, Petty, Richard, Phetteplace, Janel, Puymirat, Jack, Raman, Subha, Richer, Louis, Roma, Elisabetta, Sampson, Jacinda, Sansone, Valeria, Schoser, Benedikt, Sterling, Laurie, Statland, Jeffrey, Subramony, S H, Tian, Cuixia, Trujillo, Careniña, Tomaselli, Gordon, Turner, Chris, Venance, Shannon, Verma, Aparajitha, White, Molly, Winblad, Stefan
Published in Neurology. Clinical practice (01.12.2018)
Published in Neurology. Clinical practice (01.12.2018)
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P.78 - Expression of myofibrillar myopathy gene products in the nervous system
Blech-Hermoni, Y., Coscia, S., Jensen, L., Kates, M., Subedi, K., Mankodi, A.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
Expression of myofibrillar myopathy gene products in the nervous system
Blech-Hermoni, Y., Coscia, S., Jensen, L., Kates, M., Subedi, K., Mankodi, A.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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A Muscleblind Knockout Model for Myotonic Dystrophy
Kanadia, Rahul N., Johnstone, Karen A., Mankodi, Ami, Lungu, Codrin, Thornton, Charles A., Esson, Douglas, Timmers, Adrian M., Hauswirth, William W., Swanson, Maurice S.
Published in Science (American Association for the Advancement of Science) (12.12.2003)
Published in Science (American Association for the Advancement of Science) (12.12.2003)
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CONGENITAL MYOPATHIES: GENERAL AND RYR1
Todd, J., Witherspoon, J., Kushnir, A., Reiken, S., Razaqyar, M., Shelton, M., Chrismer, I., Grunseich, C., Mankodi, A., Bönnemann, C., Meilleur, K.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
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CONGENITAL MYOPATHIES: GENERAL AND RYR1: P.50Loss of FKBP12-RYR1 binding ex vivo is a post-translational modification consistently evident across diverse ryanodine receptor 1-related myopathies
Todd, J., Witherspoon, J., Kushnir, A., Reiken, S., Razaqyar, M., Shelton, M., Chrismer, I., Grunseich, C., Mankodi, A., Bönnemann, C., Meilleur, K.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
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Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges
Jerath, Nivedita U., Mankodi, Ami, Crawford, Thomas O., Grunseich, Christopher, Baloui, Hasna, Nnamdi‐Emeratom, Chioma, Schindler, Alice B., Heiman‐Patterson, Terry, Chrast, Roman, Shy, Michael E.
Published in Muscle & nerve (01.05.2018)
Published in Muscle & nerve (01.05.2018)
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Minimal expansion of the GCG repeat in the PABP2 gene does not predispose to sporadic inclusion body myositis
Mezei, M M, Mankodi, A, Brais, B, Marineau, C, Thornton, C A, Rouleau, G A, Karpati, G
Published in Neurology (01.02.1999)
Published in Neurology (01.02.1999)
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