Found: 16
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Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Ancestral origins of the prion protein gene D178N mutation in the Basque Country.
- Published in:
- Human Genetics, 2005, v. 117, n. 1, p. 61, doi. 10.1007/s00439-005-1277-0
- By:
- Publication type:
- Article
Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 843, doi. 10.1038/sj.ejhg.5201847
- By:
- Publication type:
- Article
Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.
- Published in:
- 2004
- By:
- Publication type:
- Report
Detection of an Intragenic Deletion Expands the Spectrum of CTSC Mutations in Papillon–Lefèvre Syndrome.
- Published in:
- 2008
- By:
- Publication type:
- Essay
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
- Published in:
- Annals of Neurology, 2007, v. 62, n. 2, p. 177, doi. 10.1002/ana.21191
- By:
- Publication type:
- Article
Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 851, doi. 10.1007/s10545-014-9695-6
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- Publication type:
- Article
Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 4, p. 674, doi. 10.1093/hmg/ddw425
- By:
- Publication type:
- Article
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 5, p. 1004, doi. 10.1093/hmg/ddr531
- By:
- Publication type:
- Article
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes.
- Published in:
- Movement Disorders, 2023, v. 38, n. 11, p. 2103, doi. 10.1002/mds.29576
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- Publication type:
- Article
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 140, doi. 10.1002/humu.23359
- By:
- Publication type:
- Article
REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1118, doi. 10.1002/humu.21542
- By:
- Publication type:
- Article
A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 17, p. 3489, doi. 10.1093/hmg/ddq256
- By:
- Publication type:
- Article
A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 10, p. 2015, doi. 10.1093/hmg/ddq083
- By:
- Publication type:
- Article
Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR (Communicated by Paolo M. Fortina).
- Published in:
- Human Mutation, 2004, v. 23, n. 3, p. 278, doi. 10.1002/humu.20001
- By:
- Publication type:
- Article