about
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureMutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyA comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases.Deletion of five residues from the coiled coil of fibrinogen (Bbeta Asn167_Glu171del) associated with bleeding and hypodysfibrinogenemiaThe genetics of mitochondrial disease.Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy.A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.Expression of the long form of the prolactin receptor in magnocellular oxytocin neurons is associated with specific prolactin regulation of oxytocin neurons.Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models.Benign substitution (Aα289 Arg→Gln) in the αC region of human fibrinogen.Novel fibrinogen mutation γ314Thr→Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia.Epigenetic, polymorphic and mutational (Αα167Arg→Lys) contribution to a functionally abnormal fibrinogen.Mitochondrial Dysfunction in Parkinson's Disease: New Mechanistic Insights and Therapeutic Perspectives.Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification.Adult-only exposure of male rats to a diet of high phytoestrogen content increases apoptosis of meiotic and post-meiotic germ cells.A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family.POLG mutations in Australian patients with mitochondrial disease.Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease.Diagnosis of 'possible' mitochondrial disease: an existential crisisFibrinogen Columbus: a novel gamma Gly200Val mutation causing hypofibrinogenemia in a family with associated thrombophiliaAdjacent substitutions (γ352Gly→Cys and 353Thr→Pro) in fibrinogen Ilam cause diminished γ chain expressionNew fibrinogen substitution (gammaSer313Arg) causes diminished gamma chain expression and hypodysfibrinogenaemiaTwo novel mutations at contiguous codons in the fibrinogen Bbeta chain associated with hypofibrinogenaemiaSubstitution (γ335Trp→Arg) in fibrinogen Fremantle causes diminished γ chain expression and increased sialic acid contentMitochondrial diseasesHigh Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in AustraliaExpanding the spectrum of PEX16 mutations and novel insights into disease mechanismsWhole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypesParkinson's disease and the gastrointestinal microbiomeNext-Generation Sequencing and Emerging TechnologiesIncreased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome SequencingThe gut microbiota: A novel therapeutic target in Parkinson's disease?Gastrointestinal dysfunction in Parkinson's disease
P50
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P50
description
hulumtues
@sq
researcher
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wetenschapper
@nl
հետազոտող
@hy
name
Ryan L Davis
@ast
Ryan L Davis
@en
Ryan L Davis
@es
Ryan L Davis
@nl
Ryan L Davis
@sl
type
label
Ryan L Davis
@ast
Ryan L Davis
@en
Ryan L Davis
@es
Ryan L Davis
@nl
Ryan L Davis
@sl
altLabel
Ryan Davis
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prefLabel
Ryan L Davis
@ast
Ryan L Davis
@en
Ryan L Davis
@es
Ryan L Davis
@nl
Ryan L Davis
@sl
P1053
A-7430-2015
P106
P1153
14919144800
P21
P31
P3829
P496
0000-0003-0512-8989