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Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.
- Published in:
- Neurogenetics, 2013, v. 14, n. 2, p. 113, doi. 10.1007/s10048-013-0359-8
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- Publication type:
- Article
Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism.
- Published in:
- 2013
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- Publication type:
- Letter
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.
- Published in:
- Neurogenetics, 2013, v. 14, n. 2, p. 123, doi. 10.1007/s10048-013-0358-9
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- Publication type:
- Article
Natural history of neurofibromatosis type 2 with onset before the age of 1 year.
- Published in:
- Neurogenetics, 2013, v. 14, n. 2, p. 89, doi. 10.1007/s10048-013-0354-0
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- Publication type:
- Article
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.
- Published in:
- Neurogenetics, 2013, v. 14, n. 2, p. 153, doi. 10.1007/s10048-013-0361-1
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- Publication type:
- Article
The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms.
- Published in:
- Neurogenetics, 2013, v. 14, n. 2, p. 161, doi. 10.1007/s10048-013-0360-2
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- Publication type:
- Article
Peripheral blood gene expression signature differentiates children with autism from unaffected siblings.
- Published in:
- Neurogenetics, 2013, v. 14, n. 2, p. 143, doi. 10.1007/s10048-013-0363-z
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- Publication type:
- Article
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
- Published in:
- Neurogenetics, 2013, v. 14, n. 2, p. 99, doi. 10.1007/s10048-013-0356-y
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- Publication type:
- Article
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.
- Published in:
- Neurogenetics, 2013, v. 14, n. 2, p. 133, doi. 10.1007/s10048-013-0362-0
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- Publication type:
- Article