The TREAT-NMD DMD Global database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

C.L. Bladen; D. Salgado; S. Monges; M.E. Foncuberta; K. Kekou; K. Kosma; Hugh Dawkins; L. Lamont; A.J. Roy; T. Chamova; V. Guergueltcheva; S. Chan; L. Korngut; C. Campbell; Y. Dai; J. Wang; N. Barišić; P. Brabec; J. Lahdetie; M.C. Walter; O. Schreiber-Katz; V. Karcagi; M. Garami; V. Viswanathan; F. Bayat; F. Buccella; E. Kimura; Z. Koeks; J.C. Van Den Bergen; M. Rodrigues; R. Roxburgh; A. Lusakowska; A. Kostera-Pruszczyk; J. Zimowski; R. Santos; E. Neagu; S. Artemieva; V.M. Rasic; D. Vojinovic; M. Posada; C. Bloetzer; P.Y. Jeannet; F. Joncourt; J. Díaz-Manera; E. Gallardo; A.A. Karaduman; H. Topaloğlu; R. El Sherif; A. Stringer; A.V. Shatillo; A.S. Martin; H.L. Peay; M.I. Bellgard; J. Kirschner; K.M. Flanigan; V. Straub; K. Bushby; J. Verschuuren; A. Aartsma-Rus; C. Béroud; H. Lochmüller

doi:10.1002/humu.22758

The TREAT-NMD DMD Global database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

C.L. Bladen, D. Salgado, S. Monges, M.E. Foncuberta, K. Kekou, K. Kosma, Hugh Dawkins, L. Lamont, A.J. Roy, T. Chamova, V. Guergueltcheva, S. Chan, L. Korngut, C. Campbell, Y. Dai, J. Wang, N. Barišić, P. Brabec, J. Lahdetie, M.C. WalterO. Schreiber-Katz, V. Karcagi, M. Garami, V. Viswanathan, F. Bayat, F. Buccella, E. Kimura, Z. Koeks, J.C. Van Den Bergen, M. Rodrigues, R. Roxburgh, A. Lusakowska, A. Kostera-Pruszczyk, J. Zimowski, R. Santos, E. Neagu, S. Artemieva, V.M. Rasic, D. Vojinovic, M. Posada, C. Bloetzer, P.Y. Jeannet, F. Joncourt, J. Díaz-Manera, E. Gallardo, A.A. Karaduman, H. Topaloğlu, R. El Sherif, A. Stringer, A.V. Shatillo, A.S. Martin, H.L. Peay, M.I. Bellgard, J. Kirschner, K.M. Flanigan, V. Straub, K. Bushby, J. Verschuuren, A. Aartsma-Rus, C. Béroud, H. Lochmüller

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555 Citations (Scopus)

Original language	English
Pages (from-to)	395-402
Journal	Human Mutation
Volume	36
Issue number	4
DOIs	https://doi.org/10.1002/humu.22758
Publication status	Published - 2015

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10.1002/humu.22758

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Bladen, C. L., Salgado, D., Monges, S., Foncuberta, M. E., Kekou, K., Kosma, K., Dawkins, H., Lamont, L., Roy, A. J., Chamova, T., Guergueltcheva, V., Chan, S., Korngut, L., Campbell, C., Dai, Y., Wang, J., Barišić, N., Brabec, P., Lahdetie, J., ... Lochmüller, H. (2015). The TREAT-NMD DMD Global database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Human Mutation, 36(4), 395-402. https://doi.org/10.1002/humu.22758

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title = "The TREAT-NMD DMD Global database: analysis of more than 7,000 Duchenne muscular dystrophy mutations",

author = "C.L. Bladen and D. Salgado and S. Monges and M.E. Foncuberta and K. Kekou and K. Kosma and Hugh Dawkins and L. Lamont and A.J. Roy and T. Chamova and V. Guergueltcheva and S. Chan and L. Korngut and C. Campbell and Y. Dai and J. Wang and N. Bari{\v s}i{\'c} and P. Brabec and J. Lahdetie and M.C. Walter and O. Schreiber-Katz and V. Karcagi and M. Garami and V. Viswanathan and F. Bayat and F. Buccella and E. Kimura and Z. Koeks and {Van Den Bergen}, J.C. and M. Rodrigues and R. Roxburgh and A. Lusakowska and A. Kostera-Pruszczyk and J. Zimowski and R. Santos and E. Neagu and S. Artemieva and V.M. Rasic and D. Vojinovic and M. Posada and C. Bloetzer and P.Y. Jeannet and F. Joncourt and J. D{\'i}az-Manera and E. Gallardo and A.A. Karaduman and H. Topaloğlu and {El Sherif}, R. and A. Stringer and A.V. Shatillo and A.S. Martin and H.L. Peay and M.I. Bellgard and J. Kirschner and K.M. Flanigan and V. Straub and K. Bushby and J. Verschuuren and A. Aartsma-Rus and C. B{\'e}roud and H. Lochm{\"u}ller",

year = "2015",

doi = "10.1002/humu.22758",

language = "English",

volume = "36",

pages = "395--402",

journal = "Human Mutation",

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publisher = "Wiley-Liss",

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Bladen, CL, Salgado, D, Monges, S, Foncuberta, ME, Kekou, K, Kosma, K, Dawkins, H, Lamont, L, Roy, AJ, Chamova, T, Guergueltcheva, V, Chan, S, Korngut, L, Campbell, C, Dai, Y, Wang, J, Barišić, N, Brabec, P, Lahdetie, J, Walter, MC, Schreiber-Katz, O, Karcagi, V, Garami, M, Viswanathan, V, Bayat, F, Buccella, F, Kimura, E, Koeks, Z, Van Den Bergen, JC, Rodrigues, M, Roxburgh, R, Lusakowska, A, Kostera-Pruszczyk, A, Zimowski, J, Santos, R, Neagu, E, Artemieva, S, Rasic, VM, Vojinovic, D, Posada, M, Bloetzer, C, Jeannet, PY, Joncourt, F, Díaz-Manera, J, Gallardo, E, Karaduman, AA, Topaloğlu, H, El Sherif, R, Stringer, A, Shatillo, AV, Martin, AS, Peay, HL, Bellgard, MI, Kirschner, J, Flanigan, KM, Straub, V, Bushby, K, Verschuuren, J, Aartsma-Rus, A, Béroud, C & Lochmüller, H 2015, 'The TREAT-NMD DMD Global database: analysis of more than 7,000 Duchenne muscular dystrophy mutations', Human Mutation, vol. 36, no. 4, pp. 395-402. https://doi.org/10.1002/humu.22758

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T1 - The TREAT-NMD DMD Global database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

AU - Bladen, C.L.

AU - Salgado, D.

AU - Monges, S.

AU - Foncuberta, M.E.

AU - Kekou, K.

AU - Kosma, K.

AU - Dawkins, Hugh

AU - Lamont, L.

AU - Roy, A.J.

AU - Chamova, T.

AU - Guergueltcheva, V.

AU - Chan, S.

AU - Korngut, L.

AU - Campbell, C.

AU - Dai, Y.

AU - Wang, J.

AU - Barišić, N.

AU - Brabec, P.

AU - Lahdetie, J.

AU - Walter, M.C.

AU - Schreiber-Katz, O.

AU - Karcagi, V.

AU - Garami, M.

AU - Viswanathan, V.

AU - Bayat, F.

AU - Buccella, F.

AU - Kimura, E.

AU - Koeks, Z.

AU - Van Den Bergen, J.C.

AU - Rodrigues, M.

AU - Roxburgh, R.

AU - Lusakowska, A.

AU - Kostera-Pruszczyk, A.

AU - Zimowski, J.

AU - Santos, R.

AU - Neagu, E.

AU - Artemieva, S.

AU - Rasic, V.M.

AU - Vojinovic, D.

AU - Posada, M.

AU - Bloetzer, C.

AU - Jeannet, P.Y.

AU - Joncourt, F.

AU - Díaz-Manera, J.

AU - Gallardo, E.

AU - Karaduman, A.A.

AU - Topaloğlu, H.

AU - El Sherif, R.

AU - Stringer, A.

AU - Shatillo, A.V.

AU - Martin, A.S.

AU - Peay, H.L.

AU - Bellgard, M.I.

AU - Kirschner, J.

AU - Flanigan, K.M.

AU - Straub, V.

AU - Bushby, K.

AU - Verschuuren, J.

AU - Aartsma-Rus, A.

AU - Béroud, C.

AU - Lochmüller, H.

PY - 2015

Y1 - 2015

U2 - 10.1002/humu.22758

DO - 10.1002/humu.22758

M3 - Article

C2 - 25604253

SN - 1059-7794

VL - 36

SP - 395

EP - 402

JO - Human Mutation

JF - Human Mutation

IS - 4

ER -