Works matching IS 13646745 AND DT 2012 AND VI 13 AND IP 1
Results: 13
Comment on the article 'Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri' by van den Munckhof et al.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Vincristine exacerbates asymptomatic Charcot-Marie-Tooth disease with a novel EGR2 mutation.
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 77, doi. 10.1007/s10048-012-0313-1
- By:
- Publication type:
- Article
Restriction of trophic factors and nutrients induces PARKIN expression.
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 9, doi. 10.1007/s10048-011-0303-8
- By:
- Publication type:
- Article
Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 1, doi. 10.1007/s10048-011-0300-y
- By:
- Publication type:
- Article
Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample.
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 83, doi. 10.1007/s10048-011-0305-6
- By:
- Publication type:
- Article
New brain-specific beta-synuclein isoforms show expression ratio changes in Lewy body diseases.
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 61, doi. 10.1007/s10048-011-0311-8
- By:
- Publication type:
- Article
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 31, doi. 10.1007/s10048-011-0306-5
- By:
- Publication type:
- Article
Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 49, doi. 10.1007/s10048-011-0307-4
- By:
- Publication type:
- Article
Genome-scale methylation analysis of Parkinson's disease patients' brains reveals DNA hypomethylation and increased mRNA expression of cytochrome P450 2E1.
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 87, doi. 10.1007/s10048-011-0308-3
- By:
- Publication type:
- Article
Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 23, doi. 10.1007/s10048-011-0304-7
- By:
- Publication type:
- Article
Neuroferritinopathy: a new inborn error of iron metabolism.
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 93, doi. 10.1007/s10048-011-0310-9
- By:
- Publication type:
- Article
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47).
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 73, doi. 10.1007/s10048-012-0314-0
- By:
- Publication type:
- Article
Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort.
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 97, doi. 10.1007/s10048-011-0312-7
- By:
- Publication type:
- Article