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Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients

Lookup NU author(s): Professor Giorgio TascaORCiD, Giulia Ricci

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This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


Publication metadata

Author(s): Strafella C, Megalizzi D, Trastulli G, Proietti Piorgo E, Colantoni L, Tasca G, Monforte M, Zampatti S, Primiano G, Sancricca C, Bortolani S, Torchia E, Ravera B, Torri F, Gadaleta G, Risi B, Caria F, Gerardi F, Carraro E, Gioiosa V, Garibaldi M, Tufano L, Frezza E, Massa R, Caltagirone C, Pennisi EM, Petrucci A, Pane M, Frongia A, Gragnani F, Scutifero M, Mandich P, Grandis M, Maioli MA, Casali C, Manfroi E, Politano L, Passamano L, Petillo R, Rodolico C, Pugliese A, Previtali SC, Sansone V, Vercelli L, Mongini TE, Ricci G, Siciliano G, Filosto M, Ricci E, Cascella R, Giardina E, FSHD Italian Clinical Group

Publication type: Article

Publication status: Published

Journal: Clinical Epigenetics

Year: 2024

Volume: 16

Print publication date: 22/10/2024

Online publication date: 22/10/2024

Acceptance date: 16/09/2024

Date deposited: 23/10/2024

ISSN (print): 1868-7083

ISSN (electronic): 1868-7075

Publisher: BioMed Central Ltd.

URL: https://doi.org/10.1186/s13148-024-01747-2

DOI: 10.1186/s13148-024-01747-2

Data Access Statement: All data generated or analyzed during this study are included in this published article (and its additional files).


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Funding

Funder referenceFunder name
Ministry of Health (Ricerca Corrente)
PRIN project 2022 PNRR (Prot. P20229XKFC)

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