Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

Giulia Ricci; Isabella Scionti; Francesco Sera; Monica Govi; Roberto D'Amico; Ilaria Frambolli; Fabiano Mele; Massimiliano Filosto; Liliana Vercelli; Lucia Ruggiero; Angela Berardinelli; Corrado Angelini; Giovanni Antonini; Elisabetta Bucci; Michelangelo Cao; Jessica Daolio; Antonio Di Muzio; Rita Di Leo; Giuliana Galluzzi; Elisabetta Iannaccone; Lorenzo Maggi; Valerio Maruotti; Maurizio Moggio; Tiziana Mongini; Lucia Morandi; Ana Nikolic; Ebe Pastorello; Enzo Ricci; Carmelo Rodolico; Lucio Santoro; Maura Servida; Gabriele Siciliano; Giuliano Tomelleri; Rossella Tupler

doi:10.1093/brain/awt226

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

Giulia Ricci, Isabella Scionti, Francesco Sera, Monica Govi, Roberto D'Amico, Ilaria Frambolli, Fabiano Mele, Massimiliano Filosto, Liliana Vercelli, Lucia Ruggiero, Angela Berardinelli, Corrado Angelini, Giovanni Antonini, Elisabetta Bucci, Michelangelo Cao, Jessica Daolio, Antonio Di Muzio, Rita Di Leo, Giuliana Galluzzi, Elisabetta IannacconeLorenzo Maggi, Valerio Maruotti, Maurizio Moggio, Tiziana Mongini, Lucia Morandi, Ana Nikolic, Ebe Pastorello, Enzo Ricci, Carmelo Rodolico, Lucio Santoro, Maura Servida, Gabriele Siciliano, Giuliano Tomelleri, Rossella Tupler

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

Abstract

Facioscapulohumeral muscular dystrophy has been genetically linked to reduced numbers (

Original language	English
Pages (from-to)	3408-3417
Number of pages	10
Journal	Brain
Volume	136
Issue number	11
DOIs	https://doi.org/10.1093/brain/awt226
Publication status	Published - 2013

Keywords

D4Z4 reduced allele
Disease expression
Facioscapulohumeral muscular dystrophy
Genotype-phenotype correlations
Penetrance

ASJC Scopus subject areas

Clinical Neurology

Access to Document

10.1093/brain/awt226

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Ricci, G., Scionti, I., Sera, F., Govi, M., D'Amico, R., Frambolli, I., Mele, F., Filosto, M., Vercelli, L., Ruggiero, L., Berardinelli, A., Angelini, C., Antonini, G., Bucci, E., Cao, M., Daolio, J., Di Muzio, A., Di Leo, R., Galluzzi, G., ... Tupler, R. (2013). Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain, 136(11), 3408-3417. https://doi.org/10.1093/brain/awt226

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. / Ricci, Giulia; Scionti, Isabella; Sera, Francesco; Govi, Monica; D'Amico, Roberto; Frambolli, Ilaria; Mele, Fabiano; Filosto, Massimiliano; Vercelli, Liliana; Ruggiero, Lucia; Berardinelli, Angela; Angelini, Corrado; Antonini, Giovanni; Bucci, Elisabetta; Cao, Michelangelo; Daolio, Jessica; Di Muzio, Antonio; Di Leo, Rita; Galluzzi, Giuliana; Iannaccone, Elisabetta; Maggi, Lorenzo; Maruotti, Valerio; Moggio, Maurizio; Mongini, Tiziana; Morandi, Lucia; Nikolic, Ana; Pastorello, Ebe; Ricci, Enzo; Rodolico, Carmelo; Santoro, Lucio; Servida, Maura; Siciliano, Gabriele; Tomelleri, Giuliano; Tupler, Rossella.

In: Brain, Vol. 136, No. 11, 2013, p. 3408-3417.

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

Ricci, G, Scionti, I, Sera, F, Govi, M, D'Amico, R, Frambolli, I, Mele, F, Filosto, M, Vercelli, L, Ruggiero, L, Berardinelli, A, Angelini, C, Antonini, G, Bucci, E, Cao, M, Daolio, J, Di Muzio, A, Di Leo, R, Galluzzi, G, Iannaccone, E, Maggi, L, Maruotti, V, Moggio, M, Mongini, T, Morandi, L, Nikolic, A, Pastorello, E, Ricci, E, Rodolico, C, Santoro, L, Servida, M, Siciliano, G, Tomelleri, G & Tupler, R 2013, 'Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy', Brain, vol. 136, no. 11, pp. 3408-3417. https://doi.org/10.1093/brain/awt226

Ricci, Giulia ; Scionti, Isabella ; Sera, Francesco ; Govi, Monica ; D'Amico, Roberto ; Frambolli, Ilaria ; Mele, Fabiano ; Filosto, Massimiliano ; Vercelli, Liliana ; Ruggiero, Lucia ; Berardinelli, Angela ; Angelini, Corrado ; Antonini, Giovanni ; Bucci, Elisabetta ; Cao, Michelangelo ; Daolio, Jessica ; Di Muzio, Antonio ; Di Leo, Rita ; Galluzzi, Giuliana ; Iannaccone, Elisabetta ; Maggi, Lorenzo ; Maruotti, Valerio ; Moggio, Maurizio ; Mongini, Tiziana ; Morandi, Lucia ; Nikolic, Ana ; Pastorello, Ebe ; Ricci, Enzo ; Rodolico, Carmelo ; Santoro, Lucio ; Servida, Maura ; Siciliano, Gabriele ; Tomelleri, Giuliano ; Tupler, Rossella. / Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. In: Brain. 2013 ; Vol. 136, No. 11. pp. 3408-3417.

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AU - D'Amico, Roberto

AU - Frambolli, Ilaria

AU - Mele, Fabiano

AU - Filosto, Massimiliano

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AU - Ruggiero, Lucia

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AU - Iannaccone, Elisabetta

AU - Maggi, Lorenzo

AU - Maruotti, Valerio

AU - Moggio, Maurizio

AU - Mongini, Tiziana

AU - Morandi, Lucia

AU - Nikolic, Ana

AU - Pastorello, Ebe

AU - Ricci, Enzo

AU - Rodolico, Carmelo

AU - Santoro, Lucio

AU - Servida, Maura

AU - Siciliano, Gabriele

AU - Tomelleri, Giuliano

AU - Tupler, Rossella

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Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

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Keywords

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