Found: 14
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Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 161, doi. 10.1007/s10048-008-0165-x
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- Publication type:
- Article
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome).
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 89, doi. 10.1007/s10048-008-0157-x
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- Publication type:
- Article
Gene expression in blood of subjects with Duchenne muscular dystrophy.
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 117, doi. 10.1007/s10048-008-0167-8
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- Publication type:
- Article
LRRK2 G2019S and R1441G mutations associated with Parkinson’s disease are common in the Basque Country, but relative prevalence is determined by ethnicity.
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 157, doi. 10.1007/s10048-008-0162-0
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- Publication type:
- Article
Comment on the article “Heterogeneous dysregulation of microRNAs across the autism spectrum” by Abu-Elneel et al.
- Published in:
- 2009
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- Publication type:
- Letter
Familial risks for amyotrophic lateral sclerosis and autoimmune diseases.
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 111, doi. 10.1007/s10048-008-0164-y
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- Publication type:
- Article
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 135, doi. 10.1007/s10048-008-0168-7
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- Publication type:
- Article
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 97, doi. 10.1007/s10048-008-0158-9
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- Publication type:
- Article
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 151, doi. 10.1007/s10048-008-0159-8
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- Publication type:
- Article
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 105, doi. 10.1007/s10048-008-0163-z
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- Publication type:
- Article
The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 127, doi. 10.1007/s10048-008-0161-1
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- Publication type:
- Article
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 145, doi. 10.1007/s10048-008-0166-9
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- Publication type:
- Article
Reply to the “Letter to the Editors” by Steven Buyske.
- Published in:
- 2009
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- Publication type:
- Letter
Robust quantification of the SMN gene copy number by real-time TaqMan PCR.
- Published in:
- 2009
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- Publication type:
- Correction Notice