Found: 22
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Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2869, doi. 10.1093/brain/awad009
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- Publication type:
- Article
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
- Published in:
- 2021
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- Publication type:
- journal article
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
- Published in:
- 2016
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- Publication type:
- journal article
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 638, doi. 10.1002/ajmg.a.38054
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- Publication type:
- Article
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1257, doi. 10.1002/ajmg.a.37553
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- Publication type:
- Article
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.
- Published in:
- 2016
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- Publication type:
- Case Study
Identification of an atypical microdeletion generating the RNF135- SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.
- Published in:
- Human Genetics, 2017, v. 136, n. 10, p. 1329, doi. 10.1007/s00439-017-1832-5
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- Publication type:
- Article
Genetic variability at the PARK16 locus.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1356, doi. 10.1038/ejhg.2010.125
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- Publication type:
- Article
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
- Published in:
- 2021
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- Publication type:
- journal article
Neuronal intranuclear inclusion disease is genetically heterogeneous.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1716, doi. 10.1002/acn3.51151
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- Publication type:
- Article
Differential involvement of reactive oxygen species and nucleoside transporters in cytotoxicity induced by two adenosine analogues in human prostate cancer cells.
- Published in:
- Prostate, 2009, v. 69, n. 5, p. 538, doi. 10.1002/pros.20900
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- Publication type:
- Article
2-Chloroadenosine modulates PAR-1 and IL-23 expression and enhances docetaxel effects on PC3 cells.
- Published in:
- Prostate, 2008, v. 68, n. 4, p. 360, doi. 10.1002/pros.20703
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- Publication type:
- Article
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population.
- Published in:
- Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad244
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- Publication type:
- Article
MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions.
- Published in:
- 2016
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- Publication type:
- Case Study
Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
- Published in:
- Movement Disorders, 2024, v. 39, n. 3, p. 486, doi. 10.1002/mds.29704
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- Publication type:
- Article
Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity.
- Published in:
- Human Mutation, 2013, v. 34, n. 2, p. 296, doi. 10.1002/humu.22241
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- Publication type:
- Article
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
- Published in:
- 2022
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- Publication type:
- Correction Notice
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
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review.
- Published in:
- Cytogenetic & Genome Research, 2018, v. 156, n. 3, p. 127, doi. 10.1159/000494532
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- Publication type:
- Article
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
- Published in:
- Movement Disorders, 2012, v. 27, n. 3, p. 393, doi. 10.1002/mds.24045
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- Publication type:
- Article
Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: Case report and literature review.
- Published in:
- Movement Disorders, 2010, v. 25, n. 10, p. 1506, doi. 10.1002/mds.23109
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- Publication type:
- Article
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.
- Published in:
- Bioinformatics, 2019, v. 35, n. 22, p. 4754, doi. 10.1093/bioinformatics/btz431
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- Publication type:
- Article