Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

M. Savarese; A. Torella; O. Musumeci; C. Angelini; G. Astrea; L. Bello; C. Bruno; G.P. Comi; G. Di Fruscio; G. Piluso; G. Di Iorio; M. Ergoli; G. Esposito; M. Fanin; O. Farina; C. Fiorillo; A. Garofalo; T. Giugliano; F. Magri; C. Minetti; M. Moggio; L. Passamano; E. Pegoraro; E. Picillo; S. Sampaolo; F.M. Santorelli; C. Semplicini; B. Udd; A. Toscano; L. Politano; V. Nigro

doi:10.1016/j.nmd.2018.03.011

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

M. Savarese, A. Torella, O. Musumeci, C. Angelini, G. Astrea, L. Bello, C. Bruno, G.P. Comi, G. Di Fruscio, G. Piluso, G. Di Iorio, M. Ergoli, G. Esposito, M. Fanin, O. Farina, C. Fiorillo, A. Garofalo, T. Giugliano, F. Magri, C. MinettiM. Moggio, L. Passamano, E. Pegoraro, E. Picillo, S. Sampaolo, F.M. Santorelli, C. Semplicini, B. Udd, A. Toscano, L. Politano, V. Nigro

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

20 Citations (Scopus)

Original language	English
Pages (from-to)	586-591
Journal	NEUROMUSCULAR DISORDERS
Volume	28
Issue number	7
DOIs	https://doi.org/10.1016/j.nmd.2018.03.011
Publication status	Published - 2018
Publication type	A1 Journal article-refereed

Keywords

GAA
Gene panels
HyperCKemia
LGMD
Late onset Pompe disease (LOPD)
Metabolic myopathies

Publication forum classification

Publication forum level 1

Access to Document

10.1016/j.nmd.2018.03.011

Cite this

Savarese, M., Torella, A., Musumeci, O., Angelini, C., Astrea, G., Bello, L., Bruno, C., Comi, G. P., Di Fruscio, G., Piluso, G., Di Iorio, G., Ergoli, M., Esposito, G., Fanin, M., Farina, O., Fiorillo, C., Garofalo, A., Giugliano, T., Magri, F., ... Nigro, V. (2018). Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease. NEUROMUSCULAR DISORDERS, 28(7), 586-591. https://doi.org/10.1016/j.nmd.2018.03.011

@article{fb1ad2a2a3ca4e7c8df5b18ef100d4a8,

title = "Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease",

keywords = "GAA, Gene panels, HyperCKemia, LGMD, Late onset Pompe disease (LOPD), Metabolic myopathies, GAA, Gene panels, HyperCKemia, LGMD, Late onset Pompe disease (LOPD), Metabolic myopathies",

author = "M. Savarese and A. Torella and O. Musumeci and C. Angelini and G. Astrea and L. Bello and C. Bruno and G.P. Comi and {Di Fruscio}, G. and G. Piluso and {Di Iorio}, G. and M. Ergoli and G. Esposito and M. Fanin and O. Farina and C. Fiorillo and A. Garofalo and T. Giugliano and F. Magri and C. Minetti and M. Moggio and L. Passamano and E. Pegoraro and E. Picillo and S. Sampaolo and F.M. Santorelli and C. Semplicini and B. Udd and A. Toscano and L. Politano and V. Nigro",

year = "2018",

doi = "10.1016/j.nmd.2018.03.011",

language = "English",

volume = "28",

pages = "586--591",

journal = "NEUROMUSCULAR DISORDERS",

issn = "0960-8966",

publisher = "Elsevier",

number = "7",

}

Savarese, M, Torella, A, Musumeci, O, Angelini, C, Astrea, G, Bello, L, Bruno, C, Comi, GP, Di Fruscio, G, Piluso, G, Di Iorio, G, Ergoli, M, Esposito, G, Fanin, M, Farina, O, Fiorillo, C, Garofalo, A, Giugliano, T, Magri, F, Minetti, C, Moggio, M, Passamano, L, Pegoraro, E, Picillo, E, Sampaolo, S, Santorelli, FM, Semplicini, C, Udd, B, Toscano, A, Politano, L & Nigro, V 2018, 'Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease', NEUROMUSCULAR DISORDERS, vol. 28, no. 7, pp. 586-591. https://doi.org/10.1016/j.nmd.2018.03.011

TY - JOUR

T1 - Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

AU - Savarese, M.

AU - Torella, A.

AU - Musumeci, O.

AU - Angelini, C.

AU - Astrea, G.

AU - Bello, L.

AU - Bruno, C.

AU - Comi, G.P.

AU - Di Fruscio, G.

AU - Piluso, G.

AU - Di Iorio, G.

AU - Ergoli, M.

AU - Esposito, G.

AU - Fanin, M.

AU - Farina, O.

AU - Fiorillo, C.

AU - Garofalo, A.

AU - Giugliano, T.

AU - Magri, F.

AU - Minetti, C.

AU - Moggio, M.

AU - Passamano, L.

AU - Pegoraro, E.

AU - Picillo, E.

AU - Sampaolo, S.

AU - Santorelli, F.M.

AU - Semplicini, C.

AU - Udd, B.

AU - Toscano, A.

AU - Politano, L.

AU - Nigro, V.

PY - 2018

Y1 - 2018

KW - GAA

KW - Gene panels

KW - HyperCKemia

KW - LGMD

KW - Late onset Pompe disease (LOPD)

KW - Metabolic myopathies

KW - GAA

KW - Gene panels

KW - HyperCKemia

KW - LGMD

KW - Late onset Pompe disease (LOPD)

KW - Metabolic myopathies

U2 - 10.1016/j.nmd.2018.03.011

DO - 10.1016/j.nmd.2018.03.011

M3 - Article

SN - 0960-8966

VL - 28

SP - 586

EP - 591

JO - NEUROMUSCULAR DISORDERS

JF - NEUROMUSCULAR DISORDERS

IS - 7

ER -