Found: 23
Select item for more details and to access through your institution.
Congenital CNS Hypomyelination in the Fig4 Null Mouse Is Rescued by Neuronal Expression of the PI(3,5)P<sub>2</sub> Phosphatase Fig4.
- Published in:
- Journal of Neuroscience, 2011, v. 31, n. 48, p. 17736, doi. 10.1523/JNEUROSCI.1482-11.2011
- By:
- Publication type:
- Article
Global Expression Profiles in Human Normal and Aneurysmal Abdominal Aorta Based on Two Distinct Whole Genome Microarray Platforms.
- Published in:
- Annals of the New York Academy of Sciences, 2006, v. 1085, n. 1, p. 360, doi. 10.1196/annals.1383.041
- By:
- Publication type:
- Article
Candidate-Gene Association Study of Mothers with Pre-Eclampsia, and Their Infants, Analyzing 775 SNPs in 190 Genes.
- Published in:
- Human Heredity, 2007, v. 63, n. 1, p. 1, doi. 10.1159/000097926
- By:
- Publication type:
- Article
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 2, p. 383, doi. 10.1093/hmg/ddu451
- By:
- Publication type:
- Article
Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4868, doi. 10.1093/hmg/ddp460
- By:
- Publication type:
- Article
C9 ORF72 expansion in a family with bipolar disorder.
- Published in:
- Bipolar Disorders, 2013, v. 15, n. 3, p. 326, doi. 10.1111/bdi.12063
- By:
- Publication type:
- Article
Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
VAC14 Gene‐Related Parkinsonism‐Dystonia With Response to Deep Brain Stimulation.
- Published in:
- Movement Disorders Clinical Practice, 2019, v. 6, n. 6, p. 494, doi. 10.1002/mdc3.12797
- By:
- Publication type:
- Article
The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm.
- Published in:
- Nature Genetics, 2008, v. 40, n. 2, p. 217, doi. 10.1038/ng.72
- By:
- Publication type:
- Article
Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 6, p. 1, doi. 10.1371/journal.pgen.1002104
- By:
- Publication type:
- Article
PI(3,5)P<sub>2</sub> biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.13023
- By:
- Publication type:
- Article
CRISPR knockout screen implicates three genes in lysosome function.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-45939-w
- By:
- Publication type:
- Article
Altered Cardiac Electrophysiology and SUDEP in a Model of Dravet Syndrome.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0077843
- By:
- Publication type:
- Article
Murine Fig4 is dispensable for muscle development but required for muscle function.
- Published in:
- Skeletal Muscle, 2013, v. 3, n. 1, p. 1, doi. 10.1186/2044-5040-3-21
- By:
- Publication type:
- Article
AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 14, doi. 10.1186/1471-2350-12-14
- By:
- Publication type:
- Article
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 7, p. 1959, doi. 10.1093/brain/awr148
- By:
- 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
- By:
- Publication type:
- Article
Protective role of the lipid phosphatase Fig4 in the adult nervous system.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 14, p. 2443, doi. 10.1093/hmg/ddy145
- By:
- Publication type:
- Article
Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 2, p. 340, doi. 10.1093/hmg/ddv480
- By:
- Publication type:
- Article
Regional expression of HOXA4 along the aorta and its potential role in human abdominal aortic aneurysms.
- Published in:
- BMC Physiology, 2011, v. 11, n. 1, p. 9, doi. 10.1186/1472-6793-11-9
- By:
- Publication type:
- Article
The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG 4 and VAC14 mutants.
- Published in:
- PLoS Genetics, 2023, v. 19, n. 6, p. 1, doi. 10.1371/journal.pgen.1010800
- By:
- Publication type:
- Article