Found: 15
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NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 333, doi. 10.1007/s10048-021-00668-z
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- Publication type:
- Article
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.
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- Neurogenetics, 2021, v. 22, n. 4, p. 347, doi. 10.1007/s10048-021-00667-0
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- Publication type:
- Article
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.
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- Neurogenetics, 2021, v. 22, n. 4, p. 287, doi. 10.1007/s10048-021-00665-2
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- Publication type:
- Article
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.
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- Neurogenetics, 2021, v. 22, n. 4, p. 313, doi. 10.1007/s10048-021-00664-3
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- Publication type:
- Article
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
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- Neurogenetics, 2021, v. 22, n. 4, p. 343, doi. 10.1007/s10048-021-00660-7
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- Publication type:
- Article
Spinocerebellar ataxias (SCAs) caused by common mutations.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 235, doi. 10.1007/s10048-021-00662-5
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- Publication type:
- Article
Milestones in genetics of cerebellar ataxias.
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- Neurogenetics, 2021, v. 22, n. 4, p. 225, doi. 10.1007/s10048-021-00656-3
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- Publication type:
- Article
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.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 359, doi. 10.1007/s10048-021-00659-0
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- Publication type:
- Article
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 271, doi. 10.1007/s10048-021-00658-1
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- Publication type:
- Article
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 297, doi. 10.1007/s10048-021-00657-2
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- Publication type:
- Article
Increased unfolded protein responses caused by MED17 mutations.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 353, doi. 10.1007/s10048-021-00661-6
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- Publication type:
- Article
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 263, doi. 10.1007/s10048-021-00655-4
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- Publication type:
- Article
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 251, doi. 10.1007/s10048-021-00652-7
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- Publication type:
- Article
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 323, doi. 10.1007/s10048-021-00649-2
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- Publication type:
- Article
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families.
- Published in:
- 2021
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- Publication type:
- Letter