MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
Donkervoort, S., Sabouny, R., Yun, P., Gauquelin, L., Chao, K. R., Hu, Y., Al Khatib, I., Töpf, A., Mohassel, P., Cummings, B. B., Kaur, R., Saade, D., Moore, S. A., Waddell, L. B., Farrar, M. A., Goodrich, J. K., Uapinyoying, P., Chan, S.H. S., Javed, A., Leach, M. E., Karachunski, P., Dalton, J., Medne, L., Harper, A., Thompson, C., Thiffault, I., Specht, S., Lamont, R. E., Saunders, C., Racher, H., Bernier, F. P., Mowat, D., Witting, N., Vissing, J., Hanson, R., Coffman, K. A., Hainlen, M., Parboosingh, J. S., Carnevale, A., Yoon, G., Schnur, R. E., Boycott, K. M., Mah, J. K., Straub, V., Foley, A. Reghan, Innes, A. M., Bönnemann, C. G., Shutt, T. E.
Published in Acta neuropathologica (01.12.2019)
Published in Acta neuropathologica (01.12.2019)
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Journal Article
Col6A2 null mice are a new mouse model of collagen-VI related dystrophies and relevant to the human disease
Mohassel, P, Rooney, J, Zou, Y, Bönnemann, C
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Interaction of electromagnetic and plasma waves in warm motional plasma: Density and thermal effects
Rashed-Mohassel, P., Hasanbeigi, A., Hajisharifi, K.
Published in European physical journal plus (01.08.2017)
Published in European physical journal plus (01.08.2017)
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Journal Article
Comparison of two clinical motor scales in individuals with giant axonal neuropathy (GAN)
Waite, M, Bharucha-Goebel, D, Moulton, T, Zampieri, C, Nichols, C, Alter, K, Averion, G, Donkervoort, S, Leach, M, Dastgir, J, Mohassel, P, Jain, M, Bönnemann, C
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Giant axonal neuropathy – clinical trial preparedness and evaluation of markers of disease severity
Bharucha-Goebel, D, Ezzo, D, Jain, M, Waite, M, Nichols, C, Lehky, T, Mohassel, P, Donkervoort, S, Leach, M, Dastgir, J, Marra, J, Zein, W, Bönnemann, C
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Muscle MRI findings in myopathies due to FHL1 mutation
Mohassel, P, Donkervoort, S, Dastgir, J, Munell, F, Sanchez, A, Haverlova, J, Manzur, A, Quijano-Roy, S, Tasca, G, Udd, B, Muntoni, F, Bönnemann, C
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
P425 Inhibition of TGFβ signaling pathway as a therapeutic approach in collagen VI-related muscular dystrophy
Mohassel, P., Hearn, H., Zou, Y., Rooney, J., Bönnemann, C.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
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Journal Article
OUTCOME MEASURES: P.246 Restorable workspace: A conceptual 3D upper extremity physical function measure for muscle strength and joint contractures
Mohassel, P., Gravunder, A., Jain, M., Bulea, T., Damiano, D., Foley, A., Bönnemann, C.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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Journal Article
OUTCOME MEASURES
Mohassel, P., Gravunder, A., Jain, M., Bulea, T., Damiano, D., Foley, A., Bönnemann, C.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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Journal Article
NEW GENES, NEW TECHNIQUES IN NEUROMUSCULAR DISORDERS
Mohassel, P., Donkervoort, S., Lone, M., Nalls, M., Gable, K., Gupta, S., Foley, A., Hornemann, T., Dunn, T., Bönnemann, C.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
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Journal Article
NEW GENES, NEW TECHNIQUES IN NEUROMUSCULAR DISORDERS: O.9 Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
Mohassel, P., Donkervoort, S., Lone, M., Nalls, M., Gable, K., Gupta, S., Foley, A., Hornemann, T., Dunn, T., Bönnemann, C.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
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Journal Article
P.33 Muscle ultrasound use in the initial diagnosis of childhood onset neuropathy and neuronopathy
Zygmunt, A., Deng, S., Donkervoort, S., Mohassel, P., Bharucha-Goebel, D., Saade, D., Neuhaus, S., Dastgir, J., Acquaye, N., Hinkley, L., Lehky, T., Foley, A., Bönnemann, C.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
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Journal Article
Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration
Shashi, Vandana, Magiera, Maria M, Klein, Dennis, Zaki, Maha, Schoch, Kelly, Rudnik‐Schöneborn, Sabine, Norman, Andrew, Lopes Abath Neto, Osorio, Dusl, Marina, Yuan, Xidi, Bartesaghi, Luca, De Marco, Patrizia, Alfares, Ahmed A, Marom, Ronit, Arold, Stefan T, Guzmán‐Vega, Francisco J, Pena, Loren DM, Smith, Edward C, Steinlin, Maja, Babiker, Mohamed OE, Mohassel, Payam, Foley, A Reghan, Donkervoort, Sandra, Kaur, Rupleen, Ghosh, Partha S, Stanley, Valentina, Musaev, Damir, Nava, Caroline, Mignot, Cyril, Keren, Boris, Scala, Marcello, Tassano, Elisa, Picco, Paolo, Doneda, Paola, Fiorillo, Chiara, Issa, Mahmoud Y, Alassiri, Ali, Alahmad, Ahmed, Gerard, Amanda, Liu, Pengfei, Yang, Yaping, Ertl‐Wagner, Birgit, Kranz, Peter G, Wentzensen, Ingrid M, Stucka, Rolf, Stong, Nicholas, Allen, Andrew S, Goldstein, David B, Schoser, Benedikt, Rösler, Kai M, Alfadhel, Majid, Capra, Valeria, Chrast, Roman, Strom, Tim M, Kamsteeg, Erik‐Jan, Bönnemann, Carsten G, Gleeson, Joseph G, Martini, Rudolf, Janke, Carsten, Senderek, Jan
Published in The EMBO journal (03.12.2018)
Published in The EMBO journal (03.12.2018)
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Journal Article
P169 Childhood onset amyotrophic lateral sclerosis associated with SPTLC2 gain-of-function pathogenic variants: clinical, genetic, and biochemical insights
Bach, R Or, Syeda, S., Mohassel, P., Dohrn, M., Lone, M., Donkervoort, S., Foley, A., Beijer, D., Bayraktar, E., Oflazer, P., Munot, P., Rose, A., Lyons, M., Muntoni, F., Başak, A., Dunn, T., Tornemann, H., Süchner, Z., Bönnemann, C.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
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Journal Article
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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Journal Article