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)

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

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)

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

Research output: Contribution to journal › Article

18 Citations (Scopus)

Abstract

.

Original language	English
Pages (from-to)	2645-2652
Number of pages	8
Journal	BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE
Publication status	Published - 2015

Keywords

myotonic dystrophy

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Silvestri, G., Santoro, M., Masciullo, M., Bianchi, M. L. E., Rossi, S., Leoncini, E., Fontana, L., Novelli, G., & Botta, A. (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.

Silvestri, Gabriella ; Santoro, Massimo ; Masciullo, Marcella ; Bianchi, Maria Laura Ester ; Rossi, Salvatore ; Leoncini, Emanuele ; Fontana, Luana ; Novelli, Giuseppe ; Botta, Annalisa. / 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). In: BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE. 2015 ; pp. 2645-2652.

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

year = "2015",

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",

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Silvestri, G, Santoro, M, Masciullo, M, Bianchi, MLE, Rossi, S, Leoncini, E, Fontana, L, Novelli, G & Botta, A 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, pp. 2645-2652.

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

In: BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE, 2015, p. 2645-2652.

Research output: Contribution to journal › Article

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 - Silvestri, Gabriella

AU - Santoro, Massimo

AU - Masciullo, Marcella

AU - Bianchi, Maria Laura Ester

AU - Rossi, Salvatore

AU - Leoncini, Emanuele

AU - Fontana, Luana

AU - Novelli, Giuseppe

AU - Botta, Annalisa

PY - 2015

Y1 - 2015

N2 - .

AB - .

KW - myotonic dystrophy

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

M3 - Article

SP - 2645

EP - 2652

JO - Biochimica et Biophysica Acta - Molecular Basis of Disease

JF - Biochimica et Biophysica Acta - Molecular Basis of Disease

SN - 0925-4439

ER -

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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