Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

Fortunato F, Fiocco L, Margutti A, Neri M, D'Amico A, Bertini E, Ricci E, Mercuri EM, Pane M, Massa R, Greco G, Berardinelli AL, Cereda C, Pini A, Merlini L, Fusco C, Rodolico C, Messina S, Fiorillo C, Bruno C, Pedemonte M, Traverso M, Moroni I, Maggi L, Gibertini S, Pegoraro E, Picillo E, Politano L, Scutifero M, Vercellino F, Massaro F, Filosto M, Gasparini P, Ricci F, Mongini TE, Selvatici R, Ferlini A, Gualandi F

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DOI: 10.3390/biom15101426
Published: 2025 Oct 8
Container: Biomolecules
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.3390/biom15101426,
  title = {Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.},
  author = {Fortunato F and Fiocco L and Margutti A and Neri M and D'Amico A and Bertini E and Ricci E and Mercuri EM and Pane M and Massa R and Greco G and Berardinelli AL and Cereda C and Pini A and Merlini L and Fusco C and Rodolico C and Messina S and Fiorillo C and Bruno C and Pedemonte M and Traverso M and Moroni I and Maggi L and Gibertini S and Pegoraro E and Picillo E and Politano L and Scutifero M and Vercellino F and Massaro F and Filosto M and Gasparini P and Ricci F and Mongini TE and Selvatici R and Ferlini A and Gualandi F},
  year = {2025},
  journal = {Biomolecules},
  doi = {10.3390/biom15101426},
  url = {https://doi.org/10.3390/biom15101426}
}

RIS

TY  - JOUR
TI  - Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.
AU  - Fortunato F
AU  - Fiocco L
AU  - Margutti A
AU  - Neri M
AU  - D'Amico A
AU  - Bertini E
AU  - Ricci E
AU  - Mercuri EM
AU  - Pane M
AU  - Massa R
AU  - Greco G
AU  - Berardinelli AL
AU  - Cereda C
AU  - Pini A
AU  - Merlini L
AU  - Fusco C
AU  - Rodolico C
AU  - Messina S
AU  - Fiorillo C
AU  - Bruno C
AU  - Pedemonte M
AU  - Traverso M
AU  - Moroni I
AU  - Maggi L
AU  - Gibertini S
AU  - Pegoraro E
AU  - Picillo E
AU  - Politano L
AU  - Scutifero M
AU  - Vercellino F
AU  - Massaro F
AU  - Filosto M
AU  - Gasparini P
AU  - Ricci F
AU  - Mongini TE
AU  - Selvatici R
AU  - Ferlini A
AU  - Gualandi F
PY  - 2025
JO  - Biomolecules
DO  - 10.3390/biom15101426
UR  - https://doi.org/10.3390/biom15101426
ER  -

APA

F, F., L, F., A, M., M, N., A, D., E, B., E, R., EM, M., M, P., R, M., G, G., AL, B., C, C., A, P., L, M., C, F., C, R., S, M., C, F., C, B., M, P., M, T., I, M., L, M., S, G., E, P., E, P., L, P., M, S., F, V., F, M., M, F., P, G., F, R., TE, M., R, S., A, F., & F, G. (2025). Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.. Biomolecules. https://doi.org/10.3390/biom15101426

Source records

pubmed · retrieved 2026-09-25T15:36:27.466Z