Disease: Warburg Sjo Fledelius syndrome
- A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome
- A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton
- A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report
- A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1)
- Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene
- Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome
- Brain white matter abnormalities associated with copy number variants
- Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
- Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis
- Consanguinity as an Adjunct Diagnostic Tool
- Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome
- Delivery of bioactive lipids from composite microgel-microsphere injectable scaffolds enhances stem cell recruitment and skeletal repair
- Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease
- ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18
- Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family
- From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients
- Genetic disorders associated with postnatal microcephaly
- Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1
- Loss-of-function mutations in RAB18 cause Warburg micro syndrome
- Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans
- Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran
- Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights
- New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish
- Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report
- Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome
- Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome
- Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome
- Psychopathological studies on the micro-ventricular syndrome
- Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B
- RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex
- Rab18: new insights into the function of an essential protein
- RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes
- RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION
- Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes
- Sodium hydrosulfide reverses beta(2)-microglobulin-induced depressive-like behaviors of male Sprague-Dawley rats: Involving improvement of synaptic plasticity and enhancement of Warburg effect in hippocampus
- Sodium hydrosulfide reverses β<sub>2</sub>-microglobulin-induced depressive-like behaviors of male Sprague-Dawley rats: Involving improvement of synaptic plasticity and enhancement of Warburg effect in hippocampus
- The Warburg micro syndrome protein RAB3GAP1 modulates neuronal morphogenesis and interacts with axon elongation end ER-Golgi trafficking factors
- The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I
- Warburg Micro syndrome
- Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping
- Warburg micro syndrome in two children from a highly inbred Turkish family
- Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation
- Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy
- Warburg-Micro syndrome caused by 1q43-q44 deletion: genotypic and phenotypic analysis in a child
- Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome