Works matching IS 13646745 AND DT 2007 AND VI 8 AND IP 4
Results: 11
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
- Published in:
- Neurogenetics, 2007, v. 8, n. 4, p. 257, doi. 10.1007/s10048-007-0094-0
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- Publication type:
- Article
Frataxin gene point mutations in Italian Friedreich ataxia patients.
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- Neurogenetics, 2007, v. 8, n. 4, p. 289, doi. 10.1007/s10048-007-0101-5
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- Publication type:
- Article
SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation.
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- Neurogenetics, 2007, v. 8, n. 4, p. 301, doi. 10.1007/s10048-007-0095-z
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- Publication type:
- Article
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease.
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- Neurogenetics, 2007, v. 8, n. 4, p. 279, doi. 10.1007/s10048-007-0096-y
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- Publication type:
- Article
The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments.
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- Neurogenetics, 2007, v. 8, n. 4, p. 237, doi. 10.1007/s10048-007-0102-4
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- Publication type:
- Article
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.
- Published in:
- Neurogenetics, 2007, v. 8, n. 4, p. 307, doi. 10.1007/s10048-007-0097-x
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- Publication type:
- Article
CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations.
- Published in:
- Neurogenetics, 2007, v. 8, n. 4, p. 249, doi. 10.1007/s10048-007-0098-9
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- Article
Acknowledgement to Referees 2006/2007.
- Published in:
- Neurogenetics, 2007, v. 8, n. 4, p. 319, doi. 10.1007/s10048-007-0105-1
- Publication type:
- Article
An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion.
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- 2007
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- Publication type:
- Letter
Evidence of shared risk for Alzheimer’s disease and Parkinson’s disease using family history.
- Published in:
- Neurogenetics, 2007, v. 8, n. 4, p. 263, doi. 10.1007/s10048-007-0100-6
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- Publication type:
- Article
Robust quantification of the SMN gene copy number by real-time TaqMan PCR.
- Published in:
- Neurogenetics, 2007, v. 8, n. 4, p. 271, doi. 10.1007/s10048-007-0093-1
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- Publication type:
- Article