Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea‐acanthocytosis: a case with clinical, pathologic and genetic evaluation
Mente, K., Kim, S. A., Grunseich, C., Hefti, M. M., Crary, J. F., Danek, A., Karp, B. I., Walker, R. H.
Published in Neuropathology and applied neurobiology (01.10.2017)
Published in Neuropathology and applied neurobiology (01.10.2017)
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Mifepristone-inducible transgene expression in neural progenitor cells in vitro and in vivo
Hjelm, B E, Grunseich, C, Gowing, G, Avalos, P, Tian, J, Shelley, B C, Mooney, M, Narwani, K, Shi, Y, Svendsen, C N, Wolfe, J H, Fischbeck, K H, Pierson, T M
Published in Gene therapy (01.05.2016)
Published in Gene therapy (01.05.2016)
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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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P90 Spinal Bulbar Muscular Atrophy (SBMA): a cross-sectional analysis of wearable sensors during the 6-minute walk (6MWT) and timed up and go (TUG) tests
Doreswamy, K., Norato, G., Kokkinis, A., Joe, G., Alqahtani, A., Grunseich, C., Jain, M.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
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P285 Bi-allelic variants in HMGCR cause limb girdle muscular dystrophy and further implicate the mevalonate pathway in muscle disease
Foley, A., Donkervoort, S., Bharucha-Goebel, D., Saade, D., Flynn, L., Grunseich, C., Hu, Y., Bruels, C., Littel, H., Estrella, E., Krishnamoorthy, K., Chao, K., Pais, L., Kunkel, L., Kang, P., Bönnemann, C.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
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P416 Systemic NAD+ deficiency reveals a potential therapeutic target for RYR1-related myopathies
Lawal, T., Riekhof, W., Groom, L., Varma, P., Chrismer, I., Kokkinis, A., Grunseich, C., Witherspoon, J., Razaqyar, M., Meilleur, K., Bönnemann, C., Xiang, L., Euro, L., Jansson, S., Mohassel, P., Dirksen, R., Todd, J.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
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REST and Its Corepressors Mediate Plasticity of Neuronal Gene Chromatin throughout Neurogenesis
Ballas, Nurit, Grunseich, Christopher, Lu, Diane D., Speh, Joan C., Mandel, Gail
Published in Cell (20.05.2005)
Published in Cell (20.05.2005)
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P.08 Phase 1 open-label trial of Rycal S48168 (ARM210) for RYR1-related myopathies
Todd, J., Lawal, T., Chrismer, I., Kokkinis, A., Grunseich, C., Jain, M., Waite, M., Barnes, M., Biancavilla, V., Pocock, S., Brooks, K., Reikof, W., Emile-Backer, M., Marks, A., Webb, Y., Marcantonio, E., Foley, A., Meilleur, K., Bönnemann, C., Mohassel, P.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
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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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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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Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia
Rinaldi, Carlo, Schmidt, Thomas, Situ, Alan J, Johnson, Janel O, Lee, Philip R, Chen, Ke-Lian, Bott, Laura C, Fadó, Rut, Harmison, George H, Parodi, Sara, Grunseich, Christopher, Renvoisé, Benoît, Biesecker, Leslie G, De Michele, Giuseppe, Santorelli, Filippo M, Filla, Alessandro, Stevanin, Giovanni, Dürr, Alexandra, Brice, Alexis, Casals, Núria, Traynor, Bryan J, Blackstone, Craig, Ulmer, Tobias S, Fischbeck, Kenneth H
Published in JAMA neurology (01.05.2015)
Published in JAMA neurology (01.05.2015)
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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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P.483 - Skeletal muscle oxidative stress is related to functional outcome measures in ryanodine receptor 1-related congenital myopathies
Todd, J., Witherspoon, J., Razaqyar, M., Chrismer, I., Kuo, A., Shelton, M., Grunseich, C., Mankodi, A., Kokkinis, A., Waite, M., Vasavada, R., Drinkard, B., Jain, M., Meilleur, K.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Skeletal muscle oxidative stress is related to functional outcome measures in ryanodine receptor 1-related congenital myopathies
Todd, J., Witherspoon, J., Razaqyar, M., Chrismer, I., Kuo, A., Shelton, M., Grunseich, C., Mankodi, A., Kokkinis, A., Waite, M., Vasavada, R., Drinkard, B., Jain, M., Meilleur, K.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
Grunseich, Christopher, Kats, Ilona R, Bott, Laura C, Rinaldi, Carlo, Kokkinis, Angela, Fox, Derrick, Chen, Ke-lian, Schindler, Alice B, Mankodi, Ami K, Shrader, Joseph A, Schwartz, Daniel P, Lehky, Tanya J, Liu, Chia-Ying, Fischbeck, Kenneth H
Published in Neuromuscular disorders : NMD (01.11.2014)
Published in Neuromuscular disorders : NMD (01.11.2014)
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EPILEPSIES MYOCLONIQUES PROGRESSIVES AU SERVICE DE NEUROLOGIE DU CENTRE HOSPITALIER UNIVERSITAIRE DU POINT “G”
Dembélé, M E, Cissé, L, Diarra, S, Yalcouyé, A, Taméga, A, Bocoum, A, Maïga, A B, Diallo, S H, Coulibaly, T, Diallo, S, Simaga, A, Grunseich, C, Kéita, M, Coulibaly, MB, Fischbeck, KH, Maiga, Y, Guinto, C O, Landouré, G
Published in Le Mali médical (08.07.2022)
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Published in Le Mali médical (08.07.2022)
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G.O.10: Skeletal muscle, cardiac, and pulmonary imaging biomarkers of disease activity in boys with Duchenne muscular dystrophy
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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Exercise Intervention Leads to Functional Improvement in a Patient with Spinal and Bulbar Muscular Atrophy
Compo, Joanne, Joseph, Jamell, Shieh, Vincent, Kokkinis, Angela D, Acevedo, Ana, Fischbeck, Kenneth H, Grunseich, Christopher, Shrader, Joseph A
Published in Journal of rehabilitation medicine. Clinical communications (2020)
Published in Journal of rehabilitation medicine. Clinical communications (2020)
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Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients
Grunseich, Christopher, Zukosky, Kristen, Kats, Ilona R, Ghosh, Laboni, Harmison, George G, Bott, Laura C, Rinaldi, Carlo, Chen, Ke-lian, Chen, Guibin, Boehm, Manfred, Fischbeck, Kenneth H
Published in Neurobiology of disease (01.10.2014)
Published in Neurobiology of disease (01.10.2014)
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