Works matching IS 13646745 AND DT 2020 AND VI 21 AND IP 2
Results: 8
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.
- Published in:
- Neurogenetics, 2020, v. 21, n. 2, p. 135, doi. 10.1007/s10048-020-00605-6
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- Publication type:
- Article
Reply to letter to the editor by De Michele et al.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Of cognition and cerebellum in SCA48.
- Published in:
- 2020
- By:
- Publication type:
- Letter
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
- Published in:
- Neurogenetics, 2020, v. 21, n. 2, p. 121, doi. 10.1007/s10048-019-00602-4
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- Publication type:
- Article
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
- Published in:
- Neurogenetics, 2020, v. 21, n. 2, p. 87, doi. 10.1007/s10048-019-00601-5
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- Publication type:
- Article
Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.
- Published in:
- Neurogenetics, 2020, v. 21, n. 2, p. 79, doi. 10.1007/s10048-019-00591-4
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- Publication type:
- Article
Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams.
- Published in:
- Neurogenetics, 2020, v. 21, n. 2, p. 97, doi. 10.1007/s10048-019-00590-5
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- Publication type:
- Article
Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann–Pick C disease.
- Published in:
- Neurogenetics, 2020, v. 21, n. 2, p. 105, doi. 10.1007/s10048-019-00600-6
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- Publication type:
- Article