Sökresultat - Kesari, Akanchha

SMN1 dosage analysis in spinal muscular atrophy from India av Kesari, Akanchha, Rennert, Hanna, Leonard, Debra GB, Mittal, Balraj

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Molecular Diagnostics av Kesari, Akanchha, Dalal, Ashwin, Lal, Girdhari, Pandey, Sachchida Nand

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Muscular Dystrophy: Disease Mechanisms and Therapies av Pandey, Sachchida Nand, Kesari, Akanchha, Yokota, Toshifumi, Pandey, Gouri Shankar

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Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy av Nallamilli, Babi Ramesh Reddy, Chakravorty, Samya, Kesari, Akanchha, Bean, Lora, Hegde, Madhuri

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Somatic mosaicism for Duchenne dystrophy: Evidence for genetic normalization mitigating muscle symptoms av Kesari, Akanchha, Neel, Robert, Wagoner, Lynne, Harmon, Brennan, Spurney, Christopher, Hoffman, Eric P

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Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy av Punetha, Jaya, Mansoor, Simin, Bertorini, Tulio E, Kesari, Akanchha, Brown, Kristy J, Hoffman, Eric P

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Non-invasive Optical Imaging of Muscle Pathology in mdx Mice Using Cathepsin Caged Near-Infrared Imaging av Baudy, Andreas R., Sali, Arpana, Jordan, Sarah, Kesari, Akanchha, Johnston, Helen K., Hoffman, Eric P., Nagaraju, Kanneboyina

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Dysferlin Deficiency Shows Compensatory Induction of Rab27A/Slp2a That May Contribute to Inflammatory Onset av Kesari, Akanchha, Fukuda, Mitsunori, Knoblach, Susan, Bashir, Rumaisa, Nader, Gustavo A., Rao, Deepak, Nagaraju, Kanneboyina, Hoffman, Eric P.

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PCB Congener Specific Oxidative Stress Response by Microarray Analysis using Human Liver Cell Line av De, Supriyo, Ghosh, Somiranjan, Chatterjee, Raghunath, Chen, Y-Q, Moses, Linda, Kesari, Akanchha, Hoffman, Eric, Dutta, Sisir K.

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Dysferlin Deficiency Enhances Monocyte Phagocytosis: A Model for the Inflammatory Onset of Limb-Girdle Muscular Dystrophy 2B av Nagaraju, Kanneboyina, Rawat, Rashmi, Veszelovszky, Edina, Thapliyal, Rachana, Kesari, Akanchha, Sparks, Susan, Raben, Nina, Plotz, Paul, Hoffman, Eric P.

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Lamin A/C–mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy av Méjat, Alexandre, Decostre, Valérie, Li, Juan, Renou, Laure, Kesari, Akanchha, Hantaï, Daniel, Stewart, Colin L., Xiao, Xiao, Hoffman, Eric, Bonne, Gisèle, Misteli, Tom

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A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects av Punetha, Jaya, Kesari, Akanchha, Hoffman, Eric P., Gos, Monika, Kamińska, Anna, Kostera-Pruszczyk, Anna, Hausmanowa-Petrusewicz, Irena, Hu, Ying, Zou, Yaqun, Bönnemann, Carsten G., Jędrzejowska, Maria

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Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study av Bello, Luca, Kesari, Akanchha, Gordish-Dressman, Heather, Cnaan, Avital, Morgenroth, Lauren P, Punetha, Jaya, Duong, Tina, Henricson, Erik K, Pegoraro, Elena, McDonald, Craig M, Hoffman, Eric P

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Osteopontin is linked with AKT, FoxO1, and myostatin in skeletal muscle cells av Nghiem, Peter P., Kornegay, Joe N., Uaesoontrachoon, Kitipong, Bello, Luca, Yin, Ying, Kesari, Akanchha, Mittal, Priya, Schatzberg, Scott J., Many, Gina M., Lee, Norman H., Hoffman, Eric P.

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Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine av O'Grady, Gina L, Best, Heather A, Oates, Emily C, Kaur, Simranpreet, Charlton, Amanda, Brammah, Susan, Punetha, Jaya, Kesari, Akanchha, North, Kathryn N, Ilkovski, Biljana, Hoffman, Eric P, Clarke, Nigel F

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A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies av Clarke, Nigel F., Amburgey, Kimberly, Teener, James, Camelo-Piragua, Sandra, Kesari, Akanchha, Punetha, Jaya, Waddell, Leigh B., Davis, Mark, Laing, Nigel G., Monnier, Nicole, North, Kathryn N., Hoffman, Eric P., Dowling, James J.

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Asynchronous remodeling is a driver of failed regeneration in Duchenne muscular dystrophy av Dadgar, Sherry, Wang, Zuyi, Johnston, Helen, Kesari, Akanchha, Nagaraju, Kanneboyina, Chen, Yi-Wen, Hill, D. Ashley, Partridge, Terence A., Giri, Mamta, Freishtat, Robert J., Nazarian, Javad, Xuan, Jianhua, Wang, Yue, Hoffman, Eric P.

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Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients av Nallamilli, Babi Ramesh Reddy, Chakravorty, Samya, Kesari, Akanchha, Tanner, Alice, Ankala, Arunkanth, Schneider, Thomas, da Silva, Cristina, Beadling, Randall, Alexander, John J., Askree, Syed Hussain, Whitt, Zachary, Bean, Lora, Collins, Christin, Khadilkar, Satish, Gaitonde, Pradnya, Dastur, Rashna, Wicklund, Matthew, Mozaffar, Tahseen, Harms, Matthew, Rufibach, Laura, Mittal, Plavi, Hegde, Madhuri

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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan av Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco

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