Article
A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.
Molecular neurobiology - 1 Apr 2018
Taghavi Shaghayegh, Chaouni Rita, Tafakhori Abbas, Azcona Luis J, Firouzabadi Saghar Ghasemi, Omrani Mir Davood, Jamshidi Javad, Emamalizadeh Babak, Shahidi Gholam Ali, Ahmadi Mona, Habibi Seyed Amir Hassan, Ahmadifard Azadeh, Fazeli Atena, Motallebi Marzieh, Petramfar Peyman, Askarpour Saeed, Askarpour Shiva, Shahmohammadibeni Hossein Ali, Shahmohammadibeni Neda, Eftekhari Hajar, Shafiei Zarneh Amir Ehtesham, Mohammadihosseinabad Saeed, Khorrami Mehdi, Najmi Safa, Chitsaz Ahmad, Shokraeian Parasto, Ehsanbakhsh Hossein, Rezaeidian Jalal, Ebrahimi Rad Reza, Madadi Faranak, Andarva Monavvar, Alehabib Elham, Atakhorrami Minoo, Mortazavi Seyed Erfan, Azimzadeh Zahra, Bayat Mahdis, Besharati Amir Mohammad, Harati-Ghavi Mohammad Ali, Omidvari Samareh, Dehghani-Tafti Zahra, Mohammadi Faraz, Mohammad Hossein Pour Banafsheh, Noorollahi Moghaddam Hamid, Esmaili Shandiz Ehsan, Habibi Arman, Taherian-Esfahani Zahra, Darvish Hossein, Paisán-Ruiz Coro
Abstract excerpt
In this study, the role of known Parkinson's disease (PD) genes was examined in families with autosomal recessive (AR) parkinsonism to assist with the differential diagnosis of PD. Some families without mutations in known genes were also subject to whole genome sequencing with the objective to identify novel parkinsonism-related genes. Families were selected from 4000 clinical files of patients with PD or...
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