Works matching IS 13646745 AND DT 2014 AND VI 15 AND IP 3
Results: 11
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.
- Published in:
- Neurogenetics, 2014, v. 15, n. 3, p. 183, doi. 10.1007/s10048-014-0406-0
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- Publication type:
- Article
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.
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- Neurogenetics, 2014, v. 15, n. 3, p. 161, doi. 10.1007/s10048-014-0412-2
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- Article
Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression.
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- Neurogenetics, 2014, v. 15, n. 3, p. 165, doi. 10.1007/s10048-014-0403-3
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- Publication type:
- Article
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.
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- Neurogenetics, 2014, v. 15, n. 3, p. 193, doi. 10.1007/s10048-014-0408-y
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- Article
Novel recessive myotilin mutation causes severe myofibrillar myopathy.
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- Neurogenetics, 2014, v. 15, n. 3, p. 151, doi. 10.1007/s10048-014-0410-4
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- Article
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.
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- Neurogenetics, 2014, v. 15, n. 3, p. 157, doi. 10.1007/s10048-014-0411-3
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- Article
Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient.
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- 2014
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- Publication type:
- Letter
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.
- Published in:
- Neurogenetics, 2014, v. 15, n. 3, p. 171, doi. 10.1007/s10048-014-0405-1
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- Publication type:
- Article
Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification.
- Published in:
- 2014
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- Publication type:
- Letter
'Neuroinflammation' differs categorically from inflammation: transcriptomes of Alzheimer's disease, Parkinson's disease, schizophrenia and inflammatory diseases compared.
- Published in:
- Neurogenetics, 2014, v. 15, n. 3, p. 201, doi. 10.1007/s10048-014-0409-x
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- Publication type:
- Article
The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndrome.
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- Neurogenetics, 2014, v. 15, n. 3, p. 189, doi. 10.1007/s10048-014-0407-z
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- Publication type:
- Article