Disease: Micro syndrome
- A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration
- A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome
- A microfluidic biosensor architecture for the rapid detection of COVID-19
- A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs
- 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)
- AGEs accumulation with vascular complications, glycemic control and metabolic syndrome: A narrative review
- Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene
- Analysis on the emerging role of Rab3 GTPase-activating protein in Warburg Micro and Martsolf syndrome
- Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion
- Autopsy case of multiple anomalies with hypoplastic cerebrum, eyes, and endocrine organs, mimicking Micro syndrome
- Brain white matter abnormalities associated with copy number variants
- Cancer and Diabetes: Predictive Factors in Patients with Metabolic Syndrome
- 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
- Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome
- Consanguinity as an Adjunct Diagnostic Tool
- COVID-19 progression in hospitalized patients using follow-up <em>in vivo</em> CT and <em>ex vivo</em> microCT
- 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
- Endoscopic Release of the Ulnar Nerve at the Elbow: Technique Description and Case Series
- 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
- Fiber-specific micro- and macroscopic white matter alterations in progressive supranuclear palsy and corticobasal syndrome
- First Clinical Report of Two <em>RAB3GAP1</em> Pathogenic Variant in Warburg Micro Syndrome
- First Clinical Report of Two RAB3GAP1 Pathogenic Variant in Warburg Micro Syndrome
- First Stabilize and then Gradually Recruit: A Paradigm Shift in Protective Mechanical Ventilation for Acute Lung Injury
- From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients
- Genetic disorders associated with postnatal microcephaly
- Higher serum AMH level is associated with better pregnancy outcomes of IVF/ICSI assisted pregnancy in infertile patients under 35 years old
- Homozygous MED25 mutation implicated in eye-intellectual disability syndrome
- Hotspots and frontiers of genetic research on pediatric cataracts from 2013 to 2022: a scientometric analysis
- Hypogonadotropic hypogonadism due to variants in <em>RAB3GAP2</em>: expanding the phenotypic and genotypic spectrum of Martsolf syndrome
- Injection Treatments for Vulvovaginal Atrophy of Menopause: A Systematic Review
- Investigation of the Intraoperative Cortical Responses to Spinal Motor Mapping in a Patient with Chronic Pain
- Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review
- Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1
- Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome
- 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
- Mesenchymal stem cells: Therapeutic option in ARDS, COPD, and COVID-19 patients
- Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights
- Micro syndrome in Muslim Pakistan children
- MICRO syndrome: an entity distinct from COFS syndrome
- Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome
- Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome
- Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
- Neuronal vacuolation and spinocerebellar degeneration associated with altered neurotransmission
- New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish
- Novel <em>RAB3GAP1</em> Mutation in the First Tunisian Family With Warburg Micro Syndrome
- Novel <em>RAB3GAP1</em> Mutations Causing Warburg Micro Syndrome in Two Italian Sisters
- Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report
- Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria
- Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome
- Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome
- Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters
- 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
- Occurrence and prevalence of bacteria on door handles at the University of Port Harcourt Teaching Hospital and the multidrug resistance implications
- Persistent and transient olfactory deficits in COVID-19 are associated to inflammation and zinc homeostasis
- Phenotypic variability in Micro syndrome: report of new cases
- Polymicrogyria and motor neuropathy in Micro syndrome
- Pulmonary alveolar microlithiasis: A report on two familial cases in Morocco
- Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders
- Rab18 and a Rab18 GEF complex are required for normal ER structure
- 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
- Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3
- 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
- Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic
- Shifting Perspectives on the Challenges of Shared Decision Making in Mental Health Care
- 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
- Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice
- TBC1D20 mediates autophagy as a key regulator of autophagosome maturation
- The association of RAB18 gene polymorphism (rs3765133) with cerebellar volume in healthy adults
- The prevalence of vascular and metabolic complications after lung transplant in people with cystic fibrosis in a Dutch cohort
- The RAB GTPase RAB18 modulates macroautophagy and proteostasis
- The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy
- 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
- Therapeutic effects and safety of apatinib mesylate on patients with gastric carcinoma peritoneal metastasis in SOX scheme
- Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome
- Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1
- U-Shaped Association Between Carboxyhemoglobin and Mortality in Patients With Acute Respiratory Distress Syndrome on Venovenous Extracorporeal Membrane Oxygenation
- Update on the Diagnosis and Management of Early-onset Scoliosis
- 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 a Turkish boy
- Warburg micro syndrome in siblings from India
- 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