Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy

Stephany El-Hayek, Aboulfazl Rad, Sahar Sedighzadeh, Gozde Yesil, Sandra Sabbagh, Mohammad Shahrooei, Pratibha Nair, Asuman Gedikbaşı, Sami Bizzari, Murtadha Ali, Eliane Chouery, Cybel Mehawej, Ayca Aslanger, Pejman Rohani, Meisam Sharifzadeh, Sinan Akbas, Javad Mohammadi-asl, Mahdiyeh Behnam, Sandra Corbani, Volkan Karaman, Uluç Yiş, Yavuz Oktay, Ipek Polat, J Andoni Urtizberea, Henry Houlden, Reza Maroofian, Gabriela Oprea, Andre Megarbane

Open source

DOI: 10.1177/22143602261436296
Published: 2026-03-29
Container: Journal of Neuromuscular Diseases
Publisher: SAGE Publications
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1177/22143602261436296,
  title = {Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy},
  author = {Stephany El-Hayek and Aboulfazl Rad and Sahar Sedighzadeh and Gozde Yesil and Sandra Sabbagh and Mohammad Shahrooei and Pratibha Nair and Asuman Gedikbaşı and Sami Bizzari and Murtadha Ali and Eliane Chouery and Cybel Mehawej and Ayca Aslanger and Pejman Rohani and Meisam Sharifzadeh and Sinan Akbas and Javad Mohammadi-asl and Mahdiyeh Behnam and Sandra Corbani and Volkan Karaman and Uluç Yiş and Yavuz Oktay and Ipek Polat and J Andoni Urtizberea and Henry Houlden and Reza Maroofian and Gabriela Oprea and Andre Megarbane},
  year = {2026},
  journal = {Journal of Neuromuscular Diseases},
  doi = {10.1177/22143602261436296},
  url = {https://doi.org/10.1177/22143602261436296}
}

RIS

TY  - JOUR
TI  - Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy
AU  - Stephany El-Hayek
AU  - Aboulfazl Rad
AU  - Sahar Sedighzadeh
AU  - Gozde Yesil
AU  - Sandra Sabbagh
AU  - Mohammad Shahrooei
AU  - Pratibha Nair
AU  - Asuman Gedikbaşı
AU  - Sami Bizzari
AU  - Murtadha Ali
AU  - Eliane Chouery
AU  - Cybel Mehawej
AU  - Ayca Aslanger
AU  - Pejman Rohani
AU  - Meisam Sharifzadeh
AU  - Sinan Akbas
AU  - Javad Mohammadi-asl
AU  - Mahdiyeh Behnam
AU  - Sandra Corbani
AU  - Volkan Karaman
AU  - Uluç Yiş
AU  - Yavuz Oktay
AU  - Ipek Polat
AU  - J Andoni Urtizberea
AU  - Henry Houlden
AU  - Reza Maroofian
AU  - Gabriela Oprea
AU  - Andre Megarbane
PY  - 2026
JO  - Journal of Neuromuscular Diseases
DO  - 10.1177/22143602261436296
UR  - https://doi.org/10.1177/22143602261436296
ER  -

APA

El-Hayek, S., Rad, A., Sedighzadeh, S., Yesil, G., Sabbagh, S., Shahrooei, M., Nair, P., Gedikbaşı, A., Bizzari, S., Ali, M., Chouery, E., Mehawej, C., Aslanger, A., Rohani, P., Sharifzadeh, M., Akbas, S., Mohammadi-asl, J., Behnam, M., Corbani, S., Karaman, V., Yiş, U., Oktay, Y., Polat, I., Urtizberea, J. A., Houlden, H., Maroofian, R., Oprea, G., & Megarbane, A. (2026). Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy. Journal of Neuromuscular Diseases. https://doi.org/10.1177/22143602261436296

Source records

crossref · retrieved 2026-09-26T08:44:03.386Z