L. Fontana

Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients.

G. Novelli, G. Silvestri, R. Massa, 2018, Biochimica et biophysica acta. Molecular basis of disease.

A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

G. Meola, G. Novelli, F. Sangiuolo, 2021, Frontiers in Genetics.

Epigenetics of functional hypothalamic amenorrhea

M. Miozzo, E. Garzia, L. Fontana, 2022, Frontiers in Endocrinology.

Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2

G. Meola, G. Novelli, F. Sangiuolo, 2018, Front. Physiol..

Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

F. Brancati, G. Novelli, F. Sangiuolo, 2017, European Journal of Human Genetics.

Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

F. Brancati, G. Novelli, F. Sangiuolo, 2016, European Journal of Human Genetics.

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).

G. Novelli, E. Leoncini, M. Masciullo, 2015, Biochimica et biophysica acta.

Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family

G. Novelli, A. Botta, A. Morrone, 2020, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.