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