Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
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- 2022
- By:
- Publication type:
- Correction Notice
Works matching IS 13646745 AND DT 2022 AND VI 23 AND IP 1
Results: 15
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Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center.
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- Neurogenetics, 2022, v. 23, n. 1, p. 37, doi. 10.1007/s10048-021-00681-2
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- Publication type:
- Article
3
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer: Regarding our manuscript: Novel variants in the NARS2 gene as a cause of infantile onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review
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- 2022
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- Publication type:
- Letter
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NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.
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- Neurogenetics, 2022, v. 23, n. 1, p. 1, doi. 10.1007/s10048-021-00679-w
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- Publication type:
- Article
5
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
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- Neurogenetics, 2022, v. 23, n. 1, p. 19, doi. 10.1007/s10048-021-00673-2
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- Publication type:
- Article
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Polygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer's disease homozygotic for the APOE ε2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhages.
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- 2022
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- Publication type:
- Letter
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Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study.
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- Neurogenetics, 2022, v. 23, n. 1, p. 45, doi. 10.1007/s10048-021-00674-1
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- Publication type:
- Article
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Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype.
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- Neurogenetics, 2022, v. 23, n. 1, p. 11, doi. 10.1007/s10048-021-00675-0
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- Publication type:
- Article
9
Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variants.
- Published in:
- 2022
- By:
- Publication type:
- Letter
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FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees.
- Published in:
- Neurogenetics, 2022, v. 23, n. 1, p. 59, doi. 10.1007/s10048-021-00671-4
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- Publication type:
- Article
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Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
- Published in:
- Neurogenetics, 2022, v. 23, n. 1, p. 27, doi. 10.1007/s10048-021-00666-1
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- Publication type:
- Article
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Acknowledgement to referees 2020/2021.
- Published in:
- Neurogenetics, 2022, v. 23, n. 1, p. 83, doi. 10.1007/s10048-021-00670-5
- Publication type:
- Article
13
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
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- 2022
- By:
- Publication type:
- Correction Notice
14
Correction to: Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia.
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- 2022
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- Publication type:
- Correction Notice
15
Correction to: Increased unfolded protein responses caused by MED17 mutations.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice