Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses

Sajjad Biglari; Halimeh Rezaei; Elnaz Asadollahzadeh; Pooneh Nikuei; Mohammad Ali Sahraian; Atefeh Sohanforooshan Moghaddam; Hassan Vahidnezhad; Leila Youssefian; Hamid Galehdari; Tahere Seifi; Niloofar Chamanrou; Sogand Heydaran; Sahere Parvas; Gholamreza Shariati; Alihossein Saberi; Mohammad Hamid; Taher Zareei; Shahrzad Tabasi; Sina Ranjbar; Gholamreza Khademi; Hasan Golmakani; Narges Hashemi; Hossein Akhavan; Maryam Naseri; Nahid Donyadideh; Ehsan Barkhordari; Mehran Beiraghi Toosi; Samaneh Arabi; Negar Heidari; Fatemeh Eghbal; Hasan Badpar; Amin Saeidinia; Shima Imannezhad; Sepideh Bagheri; Mojtaba Lotfi; Majid Mirsadraee; Tina Loghmani; Azadeh Darabi; Raheleh Derafshi; Maryam Behmadi; Abbas boskabadi; Salehe Akhondian; Peyman Eshraghi; Mahya Hosseini; Ahmadshah Farhat; Fatemeh Ghane Sharbaf; Samaneh Norooziasl; Nosrat Ghaemi; Najmeh Ahangari; Masoud Etemadifar; Toktam Moosavian; Reza Shervin Badv; Henry Houlden; Payam Sarraf; Mahsa Haghighatzadeh; Morteza Heidari; Ehsan Ghayoor Karimiani