Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

P.S. Denora; D. Schlesinger; C. Casali; F. Kok; A. Tessa; A. Boukhris; H. Azzedine; M.T. Dotti; C. Bruno; J. Truchetto; R. Biancheri; E. Fedirko; M. Di Rocco; C. Bueno; A. Malandrini; R. Battini; E. Sickl; M.F. de Leva; O. Boespflug-Tanguy; G. Silvestri; A. Simonati; E. Said; A. Ferbert; C. Criscuolo; K. Heinimann; A. Modoni; P. Weber; S. Palmeri; M. Plasilova; F. Pauri; D. Cassandrini; C. Battisti; A. Pini; M. Tosetti; E. Hauser; M. Masciullo; R. Di Fabio; F. Piccolo; E. Denis; G. Cioni; R. Massa; E. la Giustina; O. Calabrese; M.A.B. Melone; G. De Michele; A. Federico; E. Bertini; A. Durr; K. Brockmann; M.S. van der Knaap; M. Zatz; A. Filla; A. Brice; G. Stevanin; F.M. Santorelli

doi:10.1002/humu.20945

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

P.S. Denora, D. Schlesinger, C. Casali, F. Kok, A. Tessa, A. Boukhris, H. Azzedine, M.T. Dotti, C. Bruno, J. Truchetto, R. Biancheri, E. Fedirko, M. Di Rocco, C. Bueno, A. Malandrini, R. Battini, E. Sickl, M.F. de Leva, O. Boespflug-Tanguy, G. SilvestriA. Simonati, E. Said, A. Ferbert, C. Criscuolo, K. Heinimann, A. Modoni, P. Weber, S. Palmeri, M. Plasilova, F. Pauri, D. Cassandrini, C. Battisti, A. Pini, M. Tosetti, E. Hauser, M. Masciullo, R. Di Fabio, F. Piccolo, E. Denis, G. Cioni, R. Massa, E. la Giustina, O. Calabrese, M.A.B. Melone, G. De Michele, A. Federico, E. Bertini, A. Durr, K. Brockmann, M.S. van der Knaap, M. Zatz, A. Filla, A. Brice, G. Stevanin, F.M. Santorelli

Pediatric surgery

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	E500-E519
Journal	Human Mutation
Volume	30
Issue number	3
DOIs	https://doi.org/10.1002/humu.20945
Publication status	Published - 2009

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10.1002/humu.20945

Cite this

Denora, P. S., Schlesinger, D., Casali, C., Kok, F., Tessa, A., Boukhris, A., Azzedine, H., Dotti, M. T., Bruno, C., Truchetto, J., Biancheri, R., Fedirko, E., Di Rocco, M., Bueno, C., Malandrini, A., Battini, R., Sickl, E., de Leva, M. F., Boespflug-Tanguy, O., ... Santorelli, F. M. (2009). Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Human Mutation, 30(3), E500-E519. https://doi.org/10.1002/humu.20945

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title = "Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion",

author = "P.S. Denora and D. Schlesinger and C. Casali and F. Kok and A. Tessa and A. Boukhris and H. Azzedine and M.T. Dotti and C. Bruno and J. Truchetto and R. Biancheri and E. Fedirko and {Di Rocco}, M. and C. Bueno and A. Malandrini and R. Battini and E. Sickl and {de Leva}, M.F. and O. Boespflug-Tanguy and G. Silvestri and A. Simonati and E. Said and A. Ferbert and C. Criscuolo and K. Heinimann and A. Modoni and P. Weber and S. Palmeri and M. Plasilova and F. Pauri and D. Cassandrini and C. Battisti and A. Pini and M. Tosetti and E. Hauser and M. Masciullo and {Di Fabio}, R. and F. Piccolo and E. Denis and G. Cioni and R. Massa and {la Giustina}, E. and O. Calabrese and M.A.B. Melone and {De Michele}, G. and A. Federico and E. Bertini and A. Durr and K. Brockmann and {van der Knaap}, M.S. and M. Zatz and A. Filla and A. Brice and G. Stevanin and F.M. Santorelli",

year = "2009",

doi = "10.1002/humu.20945",

language = "Undefined/Unknown",

volume = "30",

pages = "E500--E519",

journal = "Human Mutation",

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publisher = "Wiley-Liss Inc.",

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Denora, PS, Schlesinger, D, Casali, C, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, MT, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, Di Rocco, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, de Leva, MF, Boespflug-Tanguy, O, Silvestri, G, Simonati, A, Said, E, Ferbert, A, Criscuolo, C, Heinimann, K, Modoni, A, Weber, P, Palmeri, S, Plasilova, M, Pauri, F, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, Di Fabio, R, Piccolo, F, Denis, E, Cioni, G, Massa, R, la Giustina, E, Calabrese, O, Melone, MAB, De Michele, G, Federico, A, Bertini, E, Durr, A, Brockmann, K, van der Knaap, MS, Zatz, M, Filla, A, Brice, A, Stevanin, G & Santorelli, FM 2009, 'Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion', Human Mutation, vol. 30, no. 3, pp. E500-E519. https://doi.org/10.1002/humu.20945

TY - JOUR

T1 - Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

AU - Denora, P.S.

AU - Schlesinger, D.

AU - Casali, C.

AU - Kok, F.

AU - Tessa, A.

AU - Boukhris, A.

AU - Azzedine, H.

AU - Dotti, M.T.

AU - Bruno, C.

AU - Truchetto, J.

AU - Biancheri, R.

AU - Fedirko, E.

AU - Di Rocco, M.

AU - Bueno, C.

AU - Malandrini, A.

AU - Battini, R.

AU - Sickl, E.

AU - de Leva, M.F.

AU - Boespflug-Tanguy, O.

AU - Silvestri, G.

AU - Simonati, A.

AU - Said, E.

AU - Ferbert, A.

AU - Criscuolo, C.

AU - Heinimann, K.

AU - Modoni, A.

AU - Weber, P.

AU - Palmeri, S.

AU - Plasilova, M.

AU - Pauri, F.

AU - Cassandrini, D.

AU - Battisti, C.

AU - Pini, A.

AU - Tosetti, M.

AU - Hauser, E.

AU - Masciullo, M.

AU - Di Fabio, R.

AU - Piccolo, F.

AU - Denis, E.

AU - Cioni, G.

AU - Massa, R.

AU - la Giustina, E.

AU - Calabrese, O.

AU - Melone, M.A.B.

AU - De Michele, G.

AU - Federico, A.

AU - Bertini, E.

AU - Durr, A.

AU - Brockmann, K.

AU - van der Knaap, M.S.

AU - Zatz, M.

AU - Filla, A.

AU - Brice, A.

AU - Stevanin, G.

AU - Santorelli, F.M.

PY - 2009

Y1 - 2009

U2 - 10.1002/humu.20945

DO - 10.1002/humu.20945

M3 - Article

C2 - 19105190

SN - 1059-7794

VL - 30

SP - E500-E519

JO - Human Mutation

JF - Human Mutation

IS - 3

ER -