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Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
- Published in:
- Movement Disorders, 2024, v. 39, n. 5, p. 897, doi. 10.1002/mds.29752
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- Publication type:
- Article
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
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- Human Genetics, 2023, v. 142, n. 6, p. 773, doi. 10.1007/s00439-023-02553-1
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- Publication type:
- Article
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1882, doi. 10.1002/humu.24438
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- Publication type:
- Article
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34264-y
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- Publication type:
- Article
uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
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- Human Mutation, 2022, v. 43, n. 9, p. 1239, doi. 10.1002/humu.24384
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- Publication type:
- Article
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
- Published in:
- Human Mutation, 2022, v. 43, n. 9, p. 1299, doi. 10.1002/humu.24414
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- Publication type:
- Article
Highlighting the Dystonic Phenotype Related to GNAO1.
- Published in:
- Movement Disorders, 2022, v. 37, n. 7, p. 1547, doi. 10.1002/mds.29074
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- Publication type:
- Article
De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia.
- Published in:
- 2022
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- Publication type:
- letter
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01207-5
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- Publication type:
- Article
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 5, p. 1927, doi. 10.1007/s00415-020-10348-x
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- Publication type:
- Article
Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism".
- Published in:
- Annals of Neurology, 2021, v. 89, n. 1, p. 195, doi. 10.1002/ana.25945
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- Publication type:
- Article
Early‐Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.
- Published in:
- Annals of Neurology, 2020, v. 88, n. 5, p. 1028, doi. 10.1002/ana.25863
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- Publication type:
- Article
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.
- Published in:
- 2020
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- Publication type:
- journal article
Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 5, p. 766, doi. 10.1093/hmg/ddz316
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- Publication type:
- Article
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.
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- Human Mutation, 2019, v. 40, n. 11, p. 2021, doi. 10.1002/humu.23836
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- Publication type:
- Article
TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10081-8
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- Publication type:
- Article
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 10, p. 1234, doi. 10.1001/jamaneurol.2018.1478
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- Publication type:
- Article
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 2, p. 224, doi. 10.1093/hmg/ddx384
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- Publication type:
- Article
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 8, p. 1552, doi. 10.1007/s00415-016-8167-3
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- Publication type:
- Article
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
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- Journal of Neurology, 2016, v. 263, n. 7, p. 1314, doi. 10.1007/s00415-016-8112-5
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- Publication type:
- Article
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0180-3
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- Publication type:
- Article
Cerebral Iron Accumulation Is Not a Major Feature of FA2H/ SPG35.
- Published in:
- Movement Disorders Clinical Practice, 2015, v. 2, n. 1, p. 56, doi. 10.1002/mdc3.12118
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- Publication type:
- Article
Mutation of SLC9A1, encoding the major Na1/H1 exchanger, causes ataxia–deafness Lichtenstein–Knorr syndrome.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 2, p. 463, doi. 10.1093/hmg/ddu461
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- Publication type:
- Article
Autosomal Recessive Cerebellar Ataxia Type 3 Due to AN010 Mutations.
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- JAMA Neurology, 2014, v. 71, n. 10, p. 1305, doi. 10.1001/jamaneurol.2014.193
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- Publication type:
- Article
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 411, doi. 10.1093/brain/awt338
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- Publication type:
- Article
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-173
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- Publication type:
- Article
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 3, p. 427, doi. 10.1007/s00401-013-1146-1
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- Publication type:
- Article
Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 49, doi. 10.1007/s10048-011-0307-4
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- Publication type:
- Article
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.
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- Brain: A Journal of Neurology, 2010, v. 133, n. 8, p. 2439, doi. 10.1093/brain/awq181
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- Publication type:
- Article
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.
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- European Journal of Human Genetics, 2006, v. 14, n. 9, p. 1009, doi. 10.1038/sj.ejhg.5201661
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- Publication type:
- Article