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 › peer-review

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

Access to Document

10.1186/s13023-018-0863-x

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85054082655&doi=10.1186%2fs13023-018-0863-x&partnerID=40&md5=1e3d402f0c3052bb8ba0167eb89a5eb3

Cite this

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

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

@article{b35a95b5a7f94633ac3a0bdef23f6d63,

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

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

note = "Export Date: 6 November 2018",

year = "2018",

doi = "10.1186/s13023-018-0863-x",

language = "English",

volume = "13",

journal = "Orphanet Journal of Rare Diseases",

issn = "1750-1172",

publisher = "BioMed Central Ltd.",

number = "1",

}

TY - JOUR

T1 - Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

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

N1 - Export Date: 6 November 2018

PY - 2018

Y1 - 2018

U2 - 10.1186/s13023-018-0863-x

DO - 10.1186/s13023-018-0863-x

M3 - Article

VL - 13

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

IS - 1

ER -