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8 results on '"Parman, Y."'

1. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

Author

Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laura, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Levy, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Sole, G., Megarbane, A., Horvath, R., Ricci, G., Choi, B. -O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C., Bolino, A., Sabatelli M. (ORCID:0000-0001-6635-4985), Luigetti M. (ORCID:0000-0001-7539-505X), Santoro L., Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laura, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Levy, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Sole, G., Megarbane, A., Horvath, R., Ricci, G., Choi, B. -O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C., Bolino, A., Sabatelli M. (ORCID:0000-0001-6635-4985), Luigetti M. (ORCID:0000-0001-7539-505X), and Santoro L.

Abstract

Objective: Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous phenotype. All are associated with myotubularin-related protein (MTMR) mutations. We conducted a multicenter, retrospective study to better characterize CMT4B. Methods: We collected clinical and genetic data from CMT4B subjects in 18 centers using a predefined minimal data set including Medical Research Council (MRC) scores of nine muscle pairs and CMT Neuropathy Score. Results: There were 50 patients, 21 of whom never reported before, carrying 44 mutations, of which 21 were novel and six representing novel disease associations of known rare variants. CMT4B1 patients had significantly more-severe disease than CMT4B2, with earlier onset, more-frequent motor milestones delay, wheelchair use, and respiratory involvement as well as worse MRC scores and motor CMT Examination Score components despite younger age at examination. Vocal cord involvement was common in both subtypes, whereas glaucoma occurred in CMT4B2 only. Nerve conduction velocities were similarly slowed in both subtypes. Regression analyses showed that disease severity is significantly associated with age in CMT4B1. Slopes are steeper for CMT4B1, indicating faster disease progression. Almost none of the mutations in the MTMR2 and MTMR13 genes, responsible for CMT4B1 and B2, respectively, influence the correlation between disease severity and age, in agreement with the hypothesis of a complete loss of function of MTMR2/13 proteins for such mutations. Interpretation: This is the largest CMT4B series ever reported, demonstrating that CMT4B1 is significantly more severe than CMT4B2, and allowing an estimate of prognosis. ANN NEUROL 2019.

Published
2019

2. Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

Author

Adams, D., Gonzalez-Duarte, A., O'Riordan, W. D., Yang, C. -C, Ueda, M., Kristen, A. V., Tournev, I., Schmidt, H. H., Coelho, T., Berk, J. L., Lin, K. -P, Vita, G., Attarian, S., Plante-Bordeneuve, V., Mezei, M. M., Campistol, J. M., Buades, J., Brannagan, T. H. , I I I, Kim, B. J., Oh, J., Parman, Y., Sekijima, Y., Hawkins, P. N., Solomon, S. D., Polydefkis, M., Dyck, P. J., Gandhi, P. J., Goyal, S., Chen, J., Strahs, A. L., Nochur, S. V., Sweetser, M. T., Garg, P. P., Vaishnaw, A. K., Gollob, J. A., Suhr, Ole B., Adams, D., Gonzalez-Duarte, A., O'Riordan, W. D., Yang, C. -C, Ueda, M., Kristen, A. V., Tournev, I., Schmidt, H. H., Coelho, T., Berk, J. L., Lin, K. -P, Vita, G., Attarian, S., Plante-Bordeneuve, V., Mezei, M. M., Campistol, J. M., Buades, J., Brannagan, T. H. , I I I, Kim, B. J., Oh, J., Parman, Y., Sekijima, Y., Hawkins, P. N., Solomon, S. D., Polydefkis, M., Dyck, P. J., Gandhi, P. J., Goyal, S., Chen, J., Strahs, A. L., Nochur, S. V., Sweetser, M. T., Garg, P. P., Vaishnaw, A. K., Gollob, J. A., and Suhr, Ole B.

Abstract

BACKGROUND: Patisiran, an investigational RNA interference therapeutic agent, specifically inhibits hepatic synthesis of transthyretin. METHODS: In this phase 3 trial, we randomly assigned patients with hereditary transthyretin amyloidosis with polyneuropathy, in a 2:1 ratio, to receive intravenous patisiran (0.3 mg per kilogram of body weight) or placebo once every 3 weeks. The primary end point was the change from baseline in the modified Neuropathy Impairment Score+7 (mNIS+7; range, 0 to 304, with higher scores indicating more impairment) at 18 months. Other assessments included the Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) questionnaire (range, -4 to 136, with higher scores indicating worse quality of life), 10-m walk test (with gait speed measured in meters per second), and modified body-mass index (modified BMI, defined as [weight in kilograms divided by square of height in meters] x albumin level in grams per liter; lower values indicated worse nutritional status). RESULTS: A total of 225 patients underwent randomization (148 to the patisiran group and 77 to the placebo group). The mean (+/- SD) mNIS+7 at baseline was 80.9 +/- 41.5 in the patisiran group and 74.6 +/- 37.0 in the placebo group; the least-squares mean (+/- SE) change from baseline was -6.0 +/- 1.7 versus 28.0 +/- 2.6 (difference, -34.0 points; P<0.001) at 18 months. The mean (+/- SD) baseline Norfolk QOL-DN score was 59.6 +/- 28.2 in the patisiran group and 55.5 +/- 24.3 in the placebo group; the least-squares mean (+/- SE) change from baseline was -6.7 +/- 1.8 versus 14.4 +/- 2.7 (difference, -21.1 points; P<0.001) at 18 months. Patisiran also showed an effect on gait speed and modified BMI. At 18 months, the least-squares mean change from baseline in gait speed was 0.08 +/- 0.02 m per second with patisiran versus -0.24 +/- 0.04 m per second with placebo (difference, 0.31 m per second; P<0.001), and the least-squares mean change from baseline in the modified BMI was

Published
2018
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3. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Author

Yamamoto, S., Jaiswal, M., Charng, W.L., Gambin, T., Karaca, E., Mirzaa, G., Wiszniewski, W., Sandoval, H., Haelterman, N.A., Xiong, B., Zhang, K., Bayat, V., David, G., Li, T., Chen, K., Gala, U., Harel, T., Pehlivan, D., Penney, S., Vissers, L.E.L.M., Ligt, J. de, Jhangiani, S.N., Xie, Y., Tsang, S.H., Parman, Y., Sivaci, M., Battaloglu, E., Muzny, D., Wan, Y.W., Liu, Z., Lin-Moore, A.T., Clark, R.D., Curry, C.J., Link, N., Schulze, K.L., Boerwinkle, E., Dobyns, W.B., Allikmets, R., Gibbs, R.A., Chen, R., Lupski, J.R., Wangler, M.F., Bellen, H.J., Yamamoto, S., Jaiswal, M., Charng, W.L., Gambin, T., Karaca, E., Mirzaa, G., Wiszniewski, W., Sandoval, H., Haelterman, N.A., Xiong, B., Zhang, K., Bayat, V., David, G., Li, T., Chen, K., Gala, U., Harel, T., Pehlivan, D., Penney, S., Vissers, L.E.L.M., Ligt, J. de, Jhangiani, S.N., Xie, Y., Tsang, S.H., Parman, Y., Sivaci, M., Battaloglu, E., Muzny, D., Wan, Y.W., Liu, Z., Lin-Moore, A.T., Clark, R.D., Curry, C.J., Link, N., Schulze, K.L., Boerwinkle, E., Dobyns, W.B., Allikmets, R., Gibbs, R.A., Chen, R., Lupski, J.R., Wangler, M.F., and Bellen, H.J.

Abstract

Item does not contain fulltext

Published
2014

4. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Author

Yamamoto, S., Jaiswal, M., Charng, W.L., Gambin, T., Karaca, E., Mirzaa, G., Wiszniewski, W., Sandoval, H., Haelterman, N.A., Xiong, B., Zhang, K., Bayat, V., David, G., Li, T., Chen, K., Gala, U., Harel, T., Pehlivan, D., Penney, S., Vissers, L.E.L.M., Ligt, J. de, Jhangiani, S.N., Xie, Y., Tsang, S.H., Parman, Y., Sivaci, M., Battaloglu, E., Muzny, D., Wan, Y.W., Liu, Z., Lin-Moore, A.T., Clark, R.D., Curry, C.J., Link, N., Schulze, K.L., Boerwinkle, E., Dobyns, W.B., Allikmets, R., Gibbs, R.A., Chen, R., Lupski, J.R., Wangler, M.F., Bellen, H.J., Yamamoto, S., Jaiswal, M., Charng, W.L., Gambin, T., Karaca, E., Mirzaa, G., Wiszniewski, W., Sandoval, H., Haelterman, N.A., Xiong, B., Zhang, K., Bayat, V., David, G., Li, T., Chen, K., Gala, U., Harel, T., Pehlivan, D., Penney, S., Vissers, L.E.L.M., Ligt, J. de, Jhangiani, S.N., Xie, Y., Tsang, S.H., Parman, Y., Sivaci, M., Battaloglu, E., Muzny, D., Wan, Y.W., Liu, Z., Lin-Moore, A.T., Clark, R.D., Curry, C.J., Link, N., Schulze, K.L., Boerwinkle, E., Dobyns, W.B., Allikmets, R., Gibbs, R.A., Chen, R., Lupski, J.R., Wangler, M.F., and Bellen, H.J.

Abstract

Item does not contain fulltext

Published
2014

5. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Author

Yamamoto, S., Jaiswal, M., Charng, W.L., Gambin, T., Karaca, E., Mirzaa, G., Wiszniewski, W., Sandoval, H., Haelterman, N.A., Xiong, B., Zhang, K., Bayat, V., David, G., Li, T., Chen, K., Gala, U., Harel, T., Pehlivan, D., Penney, S., Vissers, L.E.L.M., Ligt, J. de, Jhangiani, S.N., Xie, Y., Tsang, S.H., Parman, Y., Sivaci, M., Battaloglu, E., Muzny, D., Wan, Y.W., Liu, Z., Lin-Moore, A.T., Clark, R.D., Curry, C.J., Link, N., Schulze, K.L., Boerwinkle, E., Dobyns, W.B., Allikmets, R., Gibbs, R.A., Chen, R., Lupski, J.R., Wangler, M.F., Bellen, H.J., Yamamoto, S., Jaiswal, M., Charng, W.L., Gambin, T., Karaca, E., Mirzaa, G., Wiszniewski, W., Sandoval, H., Haelterman, N.A., Xiong, B., Zhang, K., Bayat, V., David, G., Li, T., Chen, K., Gala, U., Harel, T., Pehlivan, D., Penney, S., Vissers, L.E.L.M., Ligt, J. de, Jhangiani, S.N., Xie, Y., Tsang, S.H., Parman, Y., Sivaci, M., Battaloglu, E., Muzny, D., Wan, Y.W., Liu, Z., Lin-Moore, A.T., Clark, R.D., Curry, C.J., Link, N., Schulze, K.L., Boerwinkle, E., Dobyns, W.B., Allikmets, R., Gibbs, R.A., Chen, R., Lupski, J.R., Wangler, M.F., and Bellen, H.J.

Abstract

Item does not contain fulltext

Published
2014

6. European consensus table on the use of botulinum toxin type A in adult spasticity.

Author

Wissel, J., Ward, A.B., Erztgaard, P., Bensmail, D., Hecht, M.J., Lejeune, T.M., Schnider, P., Altavista, M.C., Cavazza, S., Deltombe, T., Duarte, E., Geurts, A.C.H., Gracies, J.M., Haboubi, N.H., Juan, F.J., Kasch, H., Katterer, C., Kirazli, Y., Manganotti, P., Parman, Y., Paternostro-Sluga, T., Petropoulou, K., Prempeh, R., Rousseaux, M., Slawek, J., Tieranta, N., Wissel, J., Ward, A.B., Erztgaard, P., Bensmail, D., Hecht, M.J., Lejeune, T.M., Schnider, P., Altavista, M.C., Cavazza, S., Deltombe, T., Duarte, E., Geurts, A.C.H., Gracies, J.M., Haboubi, N.H., Juan, F.J., Kasch, H., Katterer, C., Kirazli, Y., Manganotti, P., Parman, Y., Paternostro-Sluga, T., Petropoulou, K., Prempeh, R., Rousseaux, M., Slawek, J., and Tieranta, N.

Abstract

Contains fulltext : 80790.pdf (publisher's version ) (Open Access), A group of clinicians from across Europe experienced in the use of botulinum toxin type A for the treatment of spasticity following acquired brain injury gathered to develop a consensus statement on best practice in managing adults with spasticity. This consensus table summarizes the current published data, which was collated following extensive literature searches, their assessment for level of evidence and discussion among the whole group. Published information is supplemented by expert opinion based on clinical experience from 16 European countries, involving 28 clinicians, who treat an average of approximately 200 patients annually, representing many thousand spasticity treatments with botulinum toxin per year.

Published
2009

7. European consensus table on the use of botulinum toxin type A in adult spasticity.

Author

Wissel, J., Ward, A.B., Erztgaard, P., Bensmail, D., Hecht, M.J., Lejeune, T.M., Schnider, P., Altavista, M.C., Cavazza, S., Deltombe, T., Duarte, E., Geurts, A.C.H., Gracies, J.M., Haboubi, N.H., Juan, F.J., Kasch, H., Katterer, C., Kirazli, Y., Manganotti, P., Parman, Y., Paternostro-Sluga, T., Petropoulou, K., Prempeh, R., Rousseaux, M., Slawek, J., Tieranta, N., Wissel, J., Ward, A.B., Erztgaard, P., Bensmail, D., Hecht, M.J., Lejeune, T.M., Schnider, P., Altavista, M.C., Cavazza, S., Deltombe, T., Duarte, E., Geurts, A.C.H., Gracies, J.M., Haboubi, N.H., Juan, F.J., Kasch, H., Katterer, C., Kirazli, Y., Manganotti, P., Parman, Y., Paternostro-Sluga, T., Petropoulou, K., Prempeh, R., Rousseaux, M., Slawek, J., and Tieranta, N.

Abstract

Contains fulltext : 80790.pdf (publisher's version ) (Open Access), A group of clinicians from across Europe experienced in the use of botulinum toxin type A for the treatment of spasticity following acquired brain injury gathered to develop a consensus statement on best practice in managing adults with spasticity. This consensus table summarizes the current published data, which was collated following extensive literature searches, their assessment for level of evidence and discussion among the whole group. Published information is supplemented by expert opinion based on clinical experience from 16 European countries, involving 28 clinicians, who treat an average of approximately 200 patients annually, representing many thousand spasticity treatments with botulinum toxin per year.

Published
2009

8. European consensus table on the use of botulinum toxin type A in adult spasticity.

Author

Wissel, J., Ward, A.B., Erztgaard, P., Bensmail, D., Hecht, M.J., Lejeune, T.M., Schnider, P., Altavista, M.C., Cavazza, S., Deltombe, T., Duarte, E., Geurts, A.C.H., Gracies, J.M., Haboubi, N.H., Juan, F.J., Kasch, H., Katterer, C., Kirazli, Y., Manganotti, P., Parman, Y., Paternostro-Sluga, T., Petropoulou, K., Prempeh, R., Rousseaux, M., Slawek, J., Tieranta, N., Wissel, J., Ward, A.B., Erztgaard, P., Bensmail, D., Hecht, M.J., Lejeune, T.M., Schnider, P., Altavista, M.C., Cavazza, S., Deltombe, T., Duarte, E., Geurts, A.C.H., Gracies, J.M., Haboubi, N.H., Juan, F.J., Kasch, H., Katterer, C., Kirazli, Y., Manganotti, P., Parman, Y., Paternostro-Sluga, T., Petropoulou, K., Prempeh, R., Rousseaux, M., Slawek, J., and Tieranta, N.

Abstract

Contains fulltext : 80790.pdf (publisher's version ) (Open Access), A group of clinicians from across Europe experienced in the use of botulinum toxin type A for the treatment of spasticity following acquired brain injury gathered to develop a consensus statement on best practice in managing adults with spasticity. This consensus table summarizes the current published data, which was collated following extensive literature searches, their assessment for level of evidence and discussion among the whole group. Published information is supplemented by expert opinion based on clinical experience from 16 European countries, involving 28 clinicians, who treat an average of approximately 200 patients annually, representing many thousand spasticity treatments with botulinum toxin per year.

Published
2009

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