Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

G. Astrea; A. Romano; C. Angelini; C.G. Antozzi; R. Barresi; R. Battini; C. Battisti; E. Bertini; C. Bruno; D. Cassandrini; M. Fanin; F. Fattori; C. Fiorillo; R. Guerrini; L. Maggi; E. Mercuri; F. Morani; M. Mora; F. Moro; I. Pezzini; E. Picillo; M. Pinelli; L. Politano; A. Rubegni; W. Sanseverino; M. Savarese; P. Striano; A. Torella; C.P. Trevisan; R. Trovato; I. Zaraieva; F. Muntoni; V. Nigro; A. D'Amico; F.M. Santorelli; Italian CMD Network

doi:10.1186/s13023-018-0863-x

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

G. Astrea, A. Romano, C. Angelini, C.G. Antozzi, R. Barresi, R. Battini, C. Battisti, E. Bertini, C. Bruno, D. Cassandrini, M. Fanin, F. Fattori, C. Fiorillo, R. Guerrini, L. Maggi, E. Mercuri, F. Morani, M. Mora, F. Moro, I. PezziniE. Picillo, M. Pinelli, L. Politano, A. Rubegni, W. Sanseverino, M. Savarese, P. Striano, A. Torella, C.P. Trevisan, R. Trovato, I. Zaraieva, F. Muntoni, V. Nigro, A. D'Amico, F.M. Santorelli, Italian CMD Network

Fondazione Stella Maris

Research output: Contribution to journal › Article

Original language	English
Journal	Orphanet Journal of Rare Diseases
Volume	13
Issue number	1
DOIs	https://doi.org/10.1186/s13023-018-0863-x
Publication status	Published - 2018

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10.1186/s13023-018-0863-x

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Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., Battisti, C., Bertini, E., Bruno, C., Cassandrini, D., Fanin, M., Fattori, F., Fiorillo, C., Guerrini, R., Maggi, L., Mercuri, E., Morani, F., Mora, M., Moro, F., ... Network, I. CMD. (2018). Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. Orphanet Journal of Rare Diseases, 13(1). https://doi.org/10.1186/s13023-018-0863-x

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. / Astrea, G.; Romano, A.; Angelini, C.; Antozzi, C.G.; Barresi, R.; Battini, R.; Battisti, C.; Bertini, E.; Bruno, C.; Cassandrini, D.; Fanin, M.; Fattori, F.; Fiorillo, C.; Guerrini, R.; Maggi, L.; Mercuri, E.; Morani, F.; Mora, M.; Moro, F.; Pezzini, I.; Picillo, E.; Pinelli, M.; Politano, L.; Rubegni, A.; Sanseverino, W.; Savarese, M.; Striano, P.; Torella, A.; Trevisan, C.P.; Trovato, R.; Zaraieva, I.; Muntoni, F.; Nigro, V.; D'Amico, A.; Santorelli, F.M.; Network, Italian CMD.

In: Orphanet Journal of Rare Diseases, Vol. 13, No. 1, 2018.

Research output: Contribution to journal › Article

Astrea, G, Romano, A, Angelini, C, Antozzi, CG, Barresi, R, Battini, R, Battisti, C, Bertini, E, Bruno, C, Cassandrini, D, Fanin, M, Fattori, F, Fiorillo, C, Guerrini, R, Maggi, L, Mercuri, E, Morani, F, Mora, M, Moro, F, Pezzini, I, Picillo, E, Pinelli, M, Politano, L, Rubegni, A, Sanseverino, W, Savarese, M, Striano, P, Torella, A, Trevisan, CP, Trovato, R, Zaraieva, I, Muntoni, F, Nigro, V, D'Amico, A, Santorelli, FM & Network, ICMD 2018, 'Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study', Orphanet Journal of Rare Diseases, vol. 13, no. 1. https://doi.org/10.1186/s13023-018-0863-x

Astrea, G. ; Romano, A. ; Angelini, C. ; Antozzi, C.G. ; Barresi, R. ; Battini, R. ; Battisti, C. ; Bertini, E. ; Bruno, C. ; Cassandrini, D. ; Fanin, M. ; Fattori, F. ; Fiorillo, C. ; Guerrini, R. ; Maggi, L. ; Mercuri, E. ; Morani, F. ; Mora, M. ; Moro, F. ; Pezzini, I. ; Picillo, E. ; Pinelli, M. ; Politano, L. ; Rubegni, A. ; Sanseverino, W. ; Savarese, M. ; Striano, P. ; Torella, A. ; Trevisan, C.P. ; Trovato, R. ; Zaraieva, I. ; Muntoni, F. ; Nigro, V. ; D'Amico, A. ; Santorelli, F.M. ; Network, Italian CMD. / Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. In: Orphanet Journal of Rare Diseases. 2018 ; Vol. 13, No. 1.

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AU - Astrea, G.

AU - Romano, A.

AU - Angelini, C.

AU - Antozzi, C.G.

AU - Barresi, R.

AU - Battini, R.

AU - Battisti, C.

AU - Bertini, E.

AU - Bruno, C.

AU - Cassandrini, D.

AU - Fanin, M.

AU - Fattori, F.

AU - Fiorillo, C.

AU - Guerrini, R.

AU - Maggi, L.

AU - Mercuri, E.

AU - Morani, F.

AU - Mora, M.

AU - Moro, F.

AU - Pezzini, I.

AU - Picillo, E.

AU - Pinelli, M.

AU - Politano, L.

AU - Rubegni, A.

AU - Sanseverino, W.

AU - Savarese, M.

AU - Striano, P.

AU - Torella, A.

AU - Trevisan, C.P.

AU - Trovato, R.

AU - Zaraieva, I.

AU - Muntoni, F.

AU - Nigro, V.

AU - D'Amico, A.

AU - Santorelli, F.M.

AU - Network, Italian CMD

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PY - 2018

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JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

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