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Results: 7

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
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
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

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

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

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

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

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

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

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