Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.
- Published in:
- Neurogenetics, 2007, v. 8, n. 2, p. 137, doi. 10.1007/s10048-006-0070-0
- By:
- Publication type:
- Article
Works matching IS 13646745 AND DT 2007 AND VI 8 AND IP 2
Results: 11
1
2
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
- Published in:
- Neurogenetics, 2007, v. 8, n. 2, p. 131, doi. 10.1007/s10048-006-0071-z
- By:
- Publication type:
- Article
3
NIPA1 ( SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.
- Published in:
- 2007
- By:
- Publication type:
- Letter
4
Large germline deletions and duplication in isolated cerebral cavernous malformation patients.
- Published in:
- Neurogenetics, 2007, v. 8, n. 2, p. 149, doi. 10.1007/s10048-006-0076-7
- By:
- Publication type:
- Article
5
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin–Lowry syndrome.
- Published in:
- Neurogenetics, 2007, v. 8, n. 2, p. 143, doi. 10.1007/s10048-007-0080-6
- By:
- Publication type:
- Article
6
The medial and lateral substantia nigra in Parkinson’s disease: mRNA profiles associated with higher brain tissue vulnerability.
- Published in:
- Neurogenetics, 2007, v. 8, n. 2, p. 83, doi. 10.1007/s10048-006-0077-6
- By:
- Publication type:
- Article
7
A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer’s disease.
- Published in:
- Neurogenetics, 2007, v. 8, n. 2, p. 111, doi. 10.1007/s10048-007-0081-5
- By:
- Publication type:
- Article
8
Whole genome expression analyses of single- and double-knock-out mice implicate partially overlapping functions of alpha- and gamma-synuclein.
- Published in:
- Neurogenetics, 2007, v. 8, n. 2, p. 71, doi. 10.1007/s10048-007-0079-z
- By:
- Publication type:
- Article
9
Nf1 expression is dependent on strain background: implications for tumor suppressor haploinsufficiency studies.
- Published in:
- Neurogenetics, 2007, v. 8, n. 2, p. 121, doi. 10.1007/s10048-006-0078-5
- By:
- Publication type:
- Article
10
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.
- Published in:
- Neurogenetics, 2007, v. 8, n. 2, p. 103, doi. 10.1007/s10048-006-0072-y
- By:
- Publication type:
- Article
11
Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson’s disease.
- Published in:
- Neurogenetics, 2007, v. 8, n. 2, p. 95, doi. 10.1007/s10048-006-0075-8
- By:
- Publication type:
- Article