Ausgabe 2/2023
Inhalt (7 Artikel)
Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT
Seyedeh Atiyeh Afjei, Mohammad Farid Mohammadi, Elham Pourbakhtyaran, Homa Ghabeli, Mahmoud Reza Ashrafi, Roya Haghighi, Maryam Rasulinezhad, Neda Pak, Ali Reza Tavasoli, Morteza Heidari
INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms
Laura Hecher, Frederike L. Harms, Jasmin Lisfeld, Malik Alawi, Jonas Denecke, Kerstin Kutsche
Two patients with KDM3B variants and new presentations of Diets–Jongmans syndrome
Xiangyue Zhao, Tingting Yu, Jie Tang, Ru-en Yao, Niu Li, Jian Wang
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB
Alice AbdelAleem, Naim Haddad, Ghada Al-Ettribi, Amy Crunk, Ahmed Elsotouhy
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families
Haseena Sait, Somya Srivastava, Manmohan Pandey, Deepak Ravichandran, Anju Shukla, Kausik Mandal, Deepti Saxena, Arya Shambhavi, Purvi Majethia, Lakshmi Priya Rao, Suvasini Sharma, Shubha R. Phadke, Amita Moirangthem
Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients
Peiwei Zhao, Qingjie Meng, Chunhui Wan, Tao Lei, Lei Zhang, Xiankai Zhang, Li Tan, Hongmin Zhu, Xuelian He
A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations
Chunwang Li, Penghui Liu, Weilin Huang, Haojie Wang, Ke Ma, Lingyun Zhuo, Yaqing Kang, Qiu He, Yuanxiang Lin, Dezhi Kang, Fuxin Lin