Reply to the “Letter to the Editor” from Dr. J Finsterer and colleagues.
- Published in:
- Neurogenetics, 2019, v. 20, n. 1, p. 55, doi. 10.1007/s10048-019-00567-4
- By:
- Publication type:
- Article
Works matching IS 13646745 AND DT 2019 AND VI 20 AND IP 1
Results: 8
1
2
PTCD3 mutations cause Leigh-like rather than Leigh syndrome.
- Published in:
- Neurogenetics, 2019, v. 20, n. 1, p. 53, doi. 10.1007/s10048-019-00566-5
- By:
- Publication type:
- Article
3
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
- Published in:
- Neurogenetics, 2019, v. 20, n. 1, p. 27, doi. 10.1007/s10048-019-00565-6
- By:
- Publication type:
- Article
4
Clinical and molecular studies in two new cases of ARSACS.
- Published in:
- Neurogenetics, 2019, v. 20, n. 1, p. 45, doi. 10.1007/s10048-019-00564-7
- By:
- Publication type:
- Article
5
Sudden unexpected death with rare compound heterozygous variants in PRICKLE1.
- Published in:
- Neurogenetics, 2019, v. 20, n. 1, p. 39, doi. 10.1007/s10048-018-0562-8
- By:
- Publication type:
- Article
6
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.
- Published in:
- Neurogenetics, 2019, v. 20, n. 1, p. 9, doi. 10.1007/s10048-018-0561-9
- By:
- Publication type:
- Article
7
Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy.
- Published in:
- Neurogenetics, 2019, v. 20, n. 1, p. 1, doi. 10.1007/s10048-018-0560-x
- By:
- Publication type:
- Article
8
Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy.
- Published in:
- Neurogenetics, 2019, v. 20, n. 1, p. 51, doi. 10.1007/s10048-018-0563-7
- By:
- Publication type:
- Article