Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing.
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- Neurogenetics, 2018, v. 19, n. 4, p. 257, doi. 10.1007/s10048-018-0558-4
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- Article
Works matching IS 13646745 AND DT 2018 AND VI 19 AND IP 4
Results: 6
1
2
Acknowledgement to referees 2017/2018.
- Published in:
- Neurogenetics, 2018, v. 19, n. 4, p. 263, doi. 10.1007/s10048-018-0559-3
- Publication type:
- Article
3
Ataxia telangiectasia alters the ApoB and reelin pathway.
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- Neurogenetics, 2018, v. 19, n. 4, p. 237, doi. 10.1007/s10048-018-0557-5
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- Publication type:
- Article
4
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination.
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- Neurogenetics, 2018, v. 19, n. 4, p. 227, doi. 10.1007/s10048-018-0556-6
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- Publication type:
- Article
5
The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.
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- Neurogenetics, 2018, v. 19, n. 4, p. 215, doi. 10.1007/s10048-018-0555-7
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- Publication type:
- Article
6
Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.
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- Neurogenetics, 2018, v. 19, n. 4, p. 261, doi. 10.1007/s10048-018-0554-8
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- Publication type:
- Article