Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1)

Massimo Santoro; Luana Fontana; Marcella Masciullo; Maria Laura Ester Bianchi; Salvatore Rossi; Emanuele Leoncini; Giuseppe Novelli; Annalisa Botta; Gabriella Silvestri

doi:10.1016/j.bbadis.2015.09.007

Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1)

Massimo Santoro, Luana Fontana, Marcella Masciullo, Maria Laura Ester Bianchi, Salvatore Rossi, Emanuele Leoncini, Giuseppe Novelli, Annalisa Botta, Gabriella Silvestri

University of Rome Tor Vergata

Risultato della ricerca: Contributo in rivista › Articolo in rivista

18 Citazioni (Scopus)

Abstract

.

Lingua originale	English
pagine (da-a)	2645-2652
Numero di pagine	8
Rivista	BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE
DOI	https://doi.org/10.1016/j.bbadis.2015.09.007
Stato di pubblicazione	Pubblicato - 2015

Keywords

myotonic dystrophy

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10.1016/j.bbadis.2015.09.007

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Santoro, M., Fontana, L., Masciullo, M., Bianchi, M. L. E., Rossi, S., Leoncini, E., Novelli, G., Botta, A., & Silvestri, G. (2015). Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1). BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE, 2645-2652. https://doi.org/10.1016/j.bbadis.2015.09.007

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title = "Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1)",

abstract = ".",

keywords = "myotonic dystrophy, myotonic dystrophy",

author = "Massimo Santoro and Luana Fontana and Marcella Masciullo and Bianchi, {Maria Laura Ester} and Salvatore Rossi and Emanuele Leoncini and Giuseppe Novelli and Annalisa Botta and Gabriella Silvestri",

year = "2015",

doi = "10.1016/j.bbadis.2015.09.007",

language = "English",

pages = "2645--2652",

journal = "BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE",

issn = "0925-4439",

publisher = "Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598",

}

Santoro, M, Fontana, L, Masciullo, M, Bianchi, MLE, Rossi, S, Leoncini, E, Novelli, G, Botta, A & Silvestri, G 2015, 'Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1)', BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE, pagg. 2645-2652. https://doi.org/10.1016/j.bbadis.2015.09.007

Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1). / Santoro, Massimo; Fontana, Luana; Masciullo, Marcella et al.
In: BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE, 2015, pag. 2645-2652.

Risultato della ricerca: Contributo in rivista › Articolo in rivista

TY - JOUR

T1 - Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1)

AU - Santoro, Massimo

AU - Fontana, Luana

AU - Masciullo, Marcella

AU - Bianchi, Maria Laura Ester

AU - Rossi, Salvatore

AU - Leoncini, Emanuele

AU - Novelli, Giuseppe

AU - Botta, Annalisa

AU - Silvestri, Gabriella

PY - 2015

Y1 - 2015

N2 - .

AB - .

KW - myotonic dystrophy

UR - http://hdl.handle.net/10807/69115

U2 - 10.1016/j.bbadis.2015.09.007

DO - 10.1016/j.bbadis.2015.09.007

M3 - Article

SN - 0925-4439

SP - 2645

EP - 2652

JO - BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE

JF - BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE

ER -

Santoro M, Fontana L, Masciullo M, Bianchi MLE, Rossi S, Leoncini E et al. Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1). BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE. 2015;2645-2652. doi: 10.1016/j.bbadis.2015.09.007

Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1)

Abstract

Keywords

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