An ultrafast system for signaling mechanical pain in human skin von Nagi, Saad S, Marshall, Andrew G, Makdani, Adarsh, Jarocka, Ewa, Liljencrantz, Jaquette, Ridderström, Mikael, Shaikh, Sumaiya, O'Neill, Francis, Saade, Dimah, Donkervoort, Sandra, Foley, A Reghan, Minde, Jan, Trulsson, Mats, Cole, Jonathan, Bönnemann, Carsten G, Chesler, Alexander T, Bushnell, M Catherine, McGlone, Francis, Olausson, Håkan

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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement von 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.

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Congenital duodenocolic fistula in a dog von Lecoindre, A., Saade, D., Barthez, P., Cadoré, J. L., Lecoindre, P.

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Advanced small-cell bladder cancer into a ureterocele: A case report and literature review von Burity, Camila R.T., Ferreira, Fábio.T., Veiga, André F., Saade, Ricardo D.

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The ethics of the cosmetic consult: Performing procedures on the body dysmorphic patient von Saade, D.S., de Castro Maymone, M.B., Vashi, N.A.

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Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011 von Al Hosani, H, Salah, M, Osman, H M, Farag, H M, El-Assiouty, L, Saade, D, Hertecant, J

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Clinical summary of eight unrelated individuals with GMPPB mutations von Mathews, K, Jensen, B, Saade, D, Willer, T, Cox, M, Mozaffar, T, Scavina, M, Winder, T, Campbell, K, Moore, S

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171 Blood sample type and storage conditions affect circulating anti-Müllerian hormone concentrations in cattle von Saade-Rampolla, D I, Motta, J C L, Crist, A E, Garcia-Guerra, A

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Challenges on percutaneous nephrolithotomy in pregnancy: Supine position approach through ultrasound guidance von Fregonesi, Adriano, Dias, Fernando, Saade, Ricardo, Dechaalani, Vanessa, Reis, Leonardo

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Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans von Case, Laura K., Liljencrantz, Jaquette, Madian, Nicholas, Necaise, Aaron, Tubbs, Justin, McCall, Micaela, Bradson, Megan L., Szczot, Marcin, Pitcher, Mark H., Ghitani, Nima, Frangos, Eleni, Cole, Jonathan, Bharucha-Goebel, Diana, Saade, Dimah, Ogata, Tracy, Donkervoort, Sandra, Foley, A. Reghan, Bönnemann, Carsten G., Olausson, Håkan, Bushnell, M. Catherine, Chesler, Alexander T.

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491P PIEZO2 loss of function syndrome: a highly specific and recognizable phenotype von Bharucha-Goebel, D., Lee, M., Saade, D., Donkervoort, S., Yun, P., Mohassel, P., Neuhaus, S., Ogata, T., Averion, G., Mendoza, C., Alter, K., Matsubara, J., Stanley, C., Zampieri, C., Lehky, T., Nickolls, A., Chesler, A., Foley, A., Bonnemann, C.

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51P Clinical characterization of collagen XII-related disease caused by biallelic COL12A1 variants von Donkervoort, S., McCarty, R., Saade, D., Munot, P., Laverty, C., Pinz, H., Zou, Y., McNally, M., Yun, P., Tian, C., Töpf, A., Phadke, R., Malicki, D., Friedman, J., Foley, A., Gleeson, J., Lotze, T., Muntoni, F., Straub, V., Bönnemann, C.

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08P SRPK3-TTN related myopathy: early clinical characteristics and muscle imaging findings von Orbach, R., Donkervoort, S., Saade, D., D'Souza, P., Haugland, J., Foley, A., Goebel, D. Bharucha, Potticary, A., Chao, K., Macnamara, E., Finkel, R., Beggs, A., Tifft, C., Bönnemann, C.

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The importance of video otoscopy in the diagnosis and treatment of chronic otitis in dogs von Stephan, F., Saade, D., Nasser, M.

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P.33 Muscle ultrasound use in the initial diagnosis of childhood onset neuropathy and neuronopathy von 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.

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P445 Electrophysiologic and histologic findings following intrathecal AAV9 mediated gene transfer for giant axonal neuropathy von Bharucha-Goebel, D., Saade, D., Todd, J., Lehky, T., Norato, G., Armao, D., Bouldin, T., Averion, G., Hu, Y., Mohassel, P., Donkervoort, S., Corse, A., Foley, A., DeLong, T., Acquaye, N., Hinkley, L., Mendoza, C., Hoke, A., Gray, S., Bönnemann, C.

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P285 Bi-allelic variants in HMGCR cause limb girdle muscular dystrophy and further implicate the mevalonate pathway in muscle disease von 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.

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P444 Ophthalmologic findings following intrathecal AAV9 mediated gene transfer for Giant Axonal Neuropathy von Bharucha-Goebel, D., Saade, D., Todd, J., Huryn, L., Norato, G., DeLong, T., Averion, G., Donkervoort, S., Foley, A., Acquaye, N., Mendoza, C., Gray, S., Zein, W., Bonnemann, C.

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O16 New FDX2-loss of function phenotype presenting with blindness and myopathy with potential responsiveness to Co-enzyme Q10 analogs von Foley, A., Maio, N., Todd, J., Huryn, L., Saade, D., Neuhaus, S., Donkervoort, S., Hufnagel, R., Stasheff, S., Orbach, R., Gurgel-Giannetti, J., Gropman, A., Rouault, T., Bönnemann, C.

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United Arab Emirates National Newborn Screening Programme:an evaluation 1998-2000 von Al Hosani, H., Salah, M., Saade, D., Osman, H., Al Zahid, J.

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