Issue 4/2023
Content (11 Articles)
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families
S. Skoczylas, P. Jakiel, T. Płoszaj, K. Gadzalska, M. Borowiec, A. Pastorczak, H. Moczulska, M. Malarska, A. Eckersdorf-Mastalerz, E. Budzyńska, A. Zmysłowska
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders
Lianghao Si, Zhanjun Wang, Xu-Ying Li, Yang Song, Tingyan Yao, Erhe Xu, Xianling Wang, Chaodong Wang
Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review
Zeyu Zhu, Wenzhe Hou, Yuwen Cao, Haoran Zheng, Wotu Tian, Li Cao
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability
Nana Li, Hong Kang, Yanna Zou, Zhen Liu, Ying Deng, Meixian Wang, Lu Li, Hong Qin, Xiaoqiong Qiu, Yanping Wang, Jun Zhu, Mark Agostino, Julian I-T Heng, Ping Yu
Clinical and functional study of two de novo variations of CDKL5 gene
Yang You, Xinyi Men, Wenjuan Wu, Shan Liu, Xuexin He, Suzhen Sun, Xiuxia Wang, Baoguang Li
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
Maike Tomforde, Meike Steinbach, Tobias B. Haack, Gregor Kuhlenbäumer
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Mahmoudreza Ashrafi, Reyhaneh Kameli, Sareh Hosseinpour, Ehsan Razmara, Zahra Zamani, Zahra Rezaei, Raziyeh Mashayekhi, Neda Pak, Mohammad Barzegar, Reza Azizimalamiri, Morteza Rezvani Kashani, Nahideh Khosroshahi, Maryam Rasulinezhad, Morteza Heidari, Man Amanat, Alireza Abdi, Bahram Mohammadi, Mahmoud Mohammadi, Gholam Reza Zamani, Reza Shervin Badv, Abdolmajid Omrani, Sedigheh Nikbakht, Ali Hosseini Bereshneh, Mojtaba Movahedinia, Hossein Farshad Moghaddam, Hossein Shojaaldini Ardakani, Masood Ghahvechi Akbari, Mehran Beiraghi Tousi, Mohammad Vafaee Shahi, Firouzeh Hosseini, Masoud Hassanvand Amouzadeh, Seyed Ahmad Hosseini, Ali Nikkhah, Ali Khajeh, Hooman Alizadeh, Bahram Yarali, Mohammad Rohani, Parviz Karimi, Hadi Montazer Lotf Elahi, Seyyed Mohamad Mahdi Hosseiny, Masoumeh Sadat Sadeghzadeh, Hossein Mohebbi, Maryam Hosseini Moghadam, Hajar Aryan, Hassan Vahidnezhad, Mahdieh Soveizi, Bahareh Rabbani, Ali Rabbani, Nejat Mahdieh, Masoud Garshasbi, Ali Reza Tavasoli
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
Edouard Palu, Julius Järvilehto, Jana Pennonen, Nadine Huber, Sanna-Kaisa Herukka, Annakaisa Haapasalo, Pirjo Isohanni, Henna Tyynismaa, Mari Auranen, Emil Ylikallio
Adult-onset Alexander disease among patients of Jewish Syrian descent
Saar Anis, Tsvia Fay-Karmon, Simon Lassman, Fadi Shbat, Orit Lesman-Segev, Nofar Mor, Ortal Barel, Dan Dominissini, Odelia Chorin, Elon Pras, Lior Greenbaum, Sharon Hassin-Baer
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity
Tahereh Ghorashi, Hossein Darvish, Somayeh Bakhtiari, Abbas Tafakhori, Michael C. Kruer, Hossein Mozdarani
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Mahmoudreza Ashrafi, Reyhaneh Kameli, Sareh Hosseinpour, Ehsan Razmara, Zahra Zamani, Zahra Rezaei, Raziyeh Mashayekhi, Neda Pak, Mohammad Barzegar, Reza Azizimalamiri, Morteza Rezvani Kashani, Nahideh Khosroshahi, Maryam Rasulinezhad, Morteza Heidari, Man Amanat, Alireza Abdi, Bahram Mohammadi, Mahmoud Mohammadi, Gholam Reza Zamani, Reza Shervin Badv, Abdolmajid Omrani, Sedigheh Nikbakht, Ali Hosseini Bereshneh, Mojtaba Movahedinia, Hossein Farshad Moghaddam, Hossein Shojaaldini Ardakani, Masood Ghahvechi Akbari, Mehran Beiraghi Tousi, Mohammad Vafaee Shahi, Firouzeh Hosseini, Masoud Hassanvand Amouzadeh, Seyed Ahmad Hosseini, Ali Nikkhah, Ali Khajeh, Hooman Alizadeh, Bahram Yarali, Mohammad Rohani, Parviz Karimi, Hadi Montazer Lotf Elahi, Seyyed Mohamad Mahdi Hosseiny, Masoumeh Sadat Sadeghzadeh, Hossein Mohebbi, Maryam Hosseini Moghadam, Hajar Aryan, Hassan Vahidnezhad, Mahdieh Soveizi, Bahareh Rabbani, Ali Rabbani, Nejat Mahdieh, Masoud Garshasbi, Ali Reza Tavasoli