Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
- Published in:
- Neurogenetics, 2005, v. 6, n. 3, p. 107, doi. 10.1007/s10048-005-0218-3
- By:
- Publication type:
- Article
Works matching IS 13646745 AND DT 2005 AND VI 6 AND IP 3
Results: 8
1
2
Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.
- Published in:
- Neurogenetics, 2005, v. 6, n. 3, p. 151, doi. 10.1007/s10048-005-0220-9
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- Publication type:
- Article
3
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot–Marie–Tooth disease family.
- Published in:
- Neurogenetics, 2005, v. 6, n. 3, p. 159, doi. 10.1007/s10048-005-0217-4
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- Publication type:
- Article
4
X-linked creatine transporter deficiency.
- Published in:
- Neurogenetics, 2005, v. 6, n. 3, p. 165, doi. 10.1007/s10048-005-0002-4
- By:
- Publication type:
- Article
5
Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.
- Published in:
- Neurogenetics, 2005, v. 6, n. 3, p. 135, doi. 10.1007/s10048-005-0219-2
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- Publication type:
- Article
6
The Gem interacting protein (GMIP) gene is associated with major depressive disorder.
- Published in:
- Neurogenetics, 2005, v. 6, n. 3, p. 127, doi. 10.1007/s10048-005-0003-3
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- Publication type:
- Article
7
A G301R Na<sup>+</sup>/K<sup>+</sup>-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.
- Published in:
- 2005
- By:
- Publication type:
- Correction Notice
8
Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.
- Published in:
- Neurogenetics, 2005, v. 6, n. 3, p. 143, doi. 10.1007/s10048-005-0221-8
- By:
- Publication type:
- Article