Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy

gan Dilaver, Nafi, Mazaheri, Neda, Maroofian, Reza, Zeighami, Jawaher, Seifi, Tahere, Zamani, Mina, Sedaghat, Alireza, Shariati, Gholam Reza, Galehdari, Hamid
Cyhoeddwyd yn Mol Syndromol (2017)

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

gan Muto, Valentina, Flex, Elisabetta, Kupchinsky, Zachary, Primiano, Guido, Galehdari, Hamid, Dehghani, Mohammadreza, Cecchetti, Serena, Carpentieri, Giovanna, Rizza, Teresa, Mazaheri, Neda, Sedaghat, Alireza, Vahidi Mehrjardi, Mohammad Yahya, Traversa, Alice, Di Nottia, Michela, Kousi, Maria M., Jamshidi, Yalda, Ciolfi, Andrea, Caputo, Viviana, Malamiri, Reza Azizi, Pantaleoni, Francesca, Martinelli, Simone, Jeffries, Aaron R., Zeighami, Jawaher, Sherafat, Amir, Di Giuda, Daniela, Shariati, Gholam Reza, Carrozzo, Rosalba, Katsanis, Nicholas, Maroofian, Reza, Servidei, Serenella, Tartaglia, Marco
Cyhoeddwyd yn Neurology (2018)