Works matching IS 13646745 AND DT 2023 AND VI 24 AND IP 2

Results: 7

Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.

Published in:

Neurogenetics, 2023, v. 24, n. 2, p. 113, doi. 10.1007/s10048-023-00712-0

By:

Sait, Haseena;
Srivastava, Somya;
Pandey, Manmohan;
Ravichandran, Deepak;
Shukla, Anju;
Mandal, Kausik;
Saxena, Deepti;
Shambhavi, Arya;
Majethia, Purvi;
Rao, Lakshmi Priya;
Sharma, Suvasini;
Phadke, Shubha R.;
Moirangthem, Amita

Publication type:

Article

Two patients with KDM3B variants and new presentations of Diets–Jongmans syndrome.

Published in:

Neurogenetics, 2023, v. 24, n. 2, p. 95, doi. 10.1007/s10048-023-00711-1

By:

Zhao, Xiangyue;
Yu, Tingting;
Tang, Jie;
Yao, Ru-en;
Li, Niu;
Wang, Jian

Publication type:

Article

A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.

Published in:

Neurogenetics, 2023, v. 24, n. 2, p. 137, doi. 10.1007/s10048-023-00714-y

By:

Li, Chunwang;
Liu, Penghui;
Huang, Weilin;
Wang, Haojie;
Ma, Ke;
Zhuo, Lingyun;
Kang, Yaqing;
He, Qiu;
Lin, Yuanxiang;
Kang, Dezhi;
Lin, Fuxin

Publication type:

Article

Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients.

Published in:

Neurogenetics, 2023, v. 24, n. 2, p. 129, doi. 10.1007/s10048-023-00713-z

By:

Zhao, Peiwei;
Meng, Qingjie;
Wan, Chunhui;
Lei, Tao;
Zhang, Lei;
Zhang, Xiankai;
Tan, Li;
Zhu, Hongmin;
He, Xuelian

Publication type:

Article

Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB.

Published in:

Neurogenetics, 2023, v. 24, n. 2, p. 103, doi. 10.1007/s10048-023-00710-2

By:

AbdelAleem, Alice;
Haddad, Naim;
Al-Ettribi, Ghada;
Crunk, Amy;
Elsotouhy, Ahmed

Publication type:

Article

INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms.

Published in:

Neurogenetics, 2023, v. 24, n. 2, p. 79, doi. 10.1007/s10048-023-00709-9

By:

Hecher, Laura;
Harms, Frederike L.;
Lisfeld, Jasmin;
Alawi, Malik;
Denecke, Jonas;
Kutsche, Kerstin

Publication type:

Article

Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT.

Published in:

Neurogenetics, 2023, v. 24, n. 2, p. 67, doi. 10.1007/s10048-022-00708-2

By:

Afjei, Seyedeh Atiyeh;
Mohammadi, Mohammad Farid;
Pourbakhtyaran, Elham;
Ghabeli, Homa;
Ashrafi, Mahmoud Reza;
Haghighi, Roya;
Rasulinezhad, Maryam;
Pak, Neda;
Tavasoli, Ali Reza;
Heidari, Morteza

Publication type:

Article