Works matching IS 13646745 AND DT 2017 AND VI 18 AND IP 4
Results: 9
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
- Published in:
- Neurogenetics, 2017, v. 18, n. 4, p. 195, doi. 10.1007/s10048-017-0521-9
- By:
- Publication type:
- Article
Acknowledgement to Referees 2016/2017.
- Published in:
- Neurogenetics, 2017, v. 18, n. 4, p. 251, doi. 10.1007/s10048-017-0522-8
- Publication type:
- Article
Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions.
- Published in:
- Neurogenetics, 2017, v. 18, n. 4, p. 207, doi. 10.1007/s10048-017-0523-7
- By:
- Publication type:
- Article
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.
- Published in:
- Neurogenetics, 2017, v. 18, n. 4, p. 245, doi. 10.1007/s10048-017-0524-6
- By:
- Publication type:
- Article
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.
- Published in:
- Neurogenetics, 2017, v. 18, n. 4, p. 219, doi. 10.1007/s10048-017-0525-5
- By:
- Publication type:
- Article
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.
- Published in:
- Neurogenetics, 2017, v. 18, n. 4, p. 227, doi. 10.1007/s10048-017-0526-4
- By:
- Publication type:
- Article
GNE missense mutation in recessive familial amyotrophic lateral sclerosis.
- Published in:
- Neurogenetics, 2017, v. 18, n. 4, p. 237, doi. 10.1007/s10048-017-0527-3
- By:
- Publication type:
- Article
Developing the field of neurogenetics.
- Published in:
- 2017
- By:
- Publication type:
- Editorial
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
- Published in:
- Neurogenetics, 2017, v. 18, n. 4, p. 185, doi. 10.1007/s10048-017-0520-x
- By:
- Publication type:
- Article