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Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 2, p. 133, doi. 10.1177/0883073820958330
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- Publication type:
- Article
Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 10, p. 642, doi. 10.1177/0883073818776157
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- Publication type:
- Article
Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.
- Published in:
- 2018
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- Publication type:
- Letter
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Expression of distinct RNAs from 3′ untranslated regions.
- Published in:
- Nucleic Acids Research, 2011, v. 39, n. 6, p. 2393, doi. 10.1093/nar/gkq1158
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- Publication type:
- Article
Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63800
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- Publication type:
- Article
Mutations in SZT2 result in early‐onset epileptic encephalopathy and leukoencephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1443, doi. 10.1002/ajmg.a.38717
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- Publication type:
- Article
Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2694, doi. 10.1002/ajmg.a.37803
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- Publication type:
- Article
Expression Pattern of the Aspartyl-tRNA Synthetase DARS in the Human Brain.
- Published in:
- Frontiers in Molecular Neuroscience, 2018, p. 1, doi. 10.3389/fnmol.2018.00081
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- Publication type:
- Article
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
- Published in:
- Nature Genetics, 2015, v. 47, n. 3, p. 304, doi. 10.1038/ng0315-304b
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- Publication type:
- Article
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
- Published in:
- Nature Genetics, 2015, v. 47, n. 1, p. 73, doi. 10.1038/ng.3153
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- Publication type:
- Article
Corrigendum: Tiny RNAs associated with transcription start sites in animals.
- Published in:
- 2009
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- Publication type:
- Correction Notice
Tiny RNAs associated with transcription start sites in animals.
- Published in:
- Nature Genetics, 2009, v. 41, n. 5, p. 572, doi. 10.1038/ng.312
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- Publication type:
- Article
Nuclear-localized tiny RNAs are associated with transcription initiation and splice sites in metazoans.
- Published in:
- Nature Structural & Molecular Biology, 2010, v. 17, n. 8, p. 1030, doi. 10.1038/nsmb.1841
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- Publication type:
- Article
Rapid Identification of a Novel Complex I <i>MT-ND3 </i>m.10134C>A Mutation in a Leigh Syndrome Patient.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104879
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- Publication type:
- Article
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.
- Published in:
- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00362-z
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- Publication type:
- Article
Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches.
- Published in:
- Sexual Development, 2019, v. 13, n. 1, p. 26, doi. 10.1159/000494896
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- Publication type:
- Article
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 907, doi. 10.1038/ejhg.2013.268
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- Publication type:
- Article
Effect of 5'UTR introns on gene expression in Arabidopsis thaliana.
- Published in:
- BMC Genomics, 2006, v. 7, p. 1, doi. 10.1186/1471-2164-7-120
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- Publication type:
- Article
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
- Published in:
- 2014
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- Publication type:
- journal article
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 7, p. 1921
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- Publication type:
- Article
Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (Na<sub>V</sub>1.7).
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 2, p. 103, doi. 10.1093/hmg/ddad152
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- Publication type:
- Article
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 15, p. 2441, doi. 10.1093/hmg/ddad069
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- Publication type:
- Article
Whole exome sequencing in patients with white matter abnormalities.
- Published in:
- 2016
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- Publication type:
- journal article
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
MAFB modulates the maturation of lymphatic vascular networks in mice.
- Published in:
- Developmental Dynamics, 2020, v. 249, n. 10, p. 1201, doi. 10.1002/dvdy.209
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- Publication type:
- Article
Myosin Vb is required for correct trafficking of N‐cadherin and cardiac chamber ballooning.
- Published in:
- Developmental Dynamics, 2019, v. 248, n. 4, p. 284, doi. 10.1002/dvdy.19
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- Publication type:
- Article
ahctf1 and kras mutations combine to amplify oncogenic stress and restrict liver overgrowth in a zebrafish model of hepatocellular carcinoma.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.73407
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- Publication type:
- Article
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 3, p. 362, doi. 10.1093/hmg/ddab248
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- Publication type:
- Article
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1568, doi. 10.1093/hmg/ddaa081
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- Publication type:
- Article
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4506, doi. 10.1093/hmg/ddx338
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- Publication type:
- Article
Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm.
- Published in:
- 2019
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- Publication type:
- journal article
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
- Published in:
- Human Mutation, 2022, v. 43, n. 9, p. 1344, doi. 10.1002/humu.24400
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- Publication type:
- Article
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.
- Published in:
- Human Mutation, 2021, v. 42, n. 1, p. 19, doi. 10.1002/humu.24135
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- Publication type:
- Article
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
- Published in:
- Human Mutation, 2020, v. 41, n. 6, p. 1131, doi. 10.1002/humu.24008
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- Publication type:
- Article
Cerebral hypomyelination associated with biallelic variants of FIG4.
- Published in:
- Human Mutation, 2019, v. 40, n. 5, p. 619, doi. 10.1002/humu.23720
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- Publication type:
- Article
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1352947
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- Publication type:
- Article
Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101804
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- Publication type:
- Article
A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing.
- Published in:
- Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 262, doi. 10.1111/jns.12637
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- Publication type:
- Article
Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.
- Published in:
- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178125
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- Publication type:
- Article
De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome.
- Published in:
- Journal of Nephrology (JNonline), 2024, v. 37, n. 1, p. 191, doi. 10.1007/s40620-023-01666-0
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- Publication type:
- Article
A protocol for the identification and validation of novel genetic causes of kidney disease.
- Published in:
- BMC Nephrology, 2015, v. 16, p. 1, doi. 10.1186/s12882-015-0148-8
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- Publication type:
- Article
A protocol for the identification and validation of novel genetic causes of kidney disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article