about
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 geneOPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypesCan patients with McArdle's disease run?The V368i mutation in Twinkle does not segregate with AdPEOImpact of the mitochondrial genetic background in complex III deficiencyExpression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutationFollow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.Mitochondrial activity is modulated by TNFalpha and IL-1beta in normal human chondrocyte cells.Biological roles of L-carnitine in perinatal metabolism.Respiratory chain enzyme defects in patients with idiopathic inflammatory myopathy.Oxidative stress in skin fibroblasts cultures from patients with Parkinson's diseaseEffect of nitric oxide on mitochondrial activity of human synovial cells.Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.Novel mutation in the PYGM gene resulting in McArdle disease.Molecular genetics of McArdle's disease.A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndromeAre mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohortMobilisation of mesenchymal cells into blood in response to skeletal muscle injury.Exercise capacity in a 78 year old patient with McArdle's disease: it is never too late to start exercising.Mitochondrial disorders due to nuclear OXPHOS gene defects.Mitochondrial respiratory chain dysfunction: implications in neurodegeneration.McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.Genes and exercise intolerance: insights from McArdle disease.Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.Exercise and Preexercise Nutrition as Treatment for McArdle Disease.Nitric oxide compounds have different effects profiles on human articular chondrocyte metabolism.Muscle fiber type proportion and size is not altered in mcardle disease.New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry.
P50
Q24299919-5760DE8C-F6F3-4ACF-9F1E-7E82E52B2DF5Q24304868-1540B360-5FFA-47E1-87E8-7FC03F4F90A7Q24642396-1277D119-2C49-4DFA-A5E9-053654AA832DQ28206099-9BA7A395-E645-43D9-97DA-951353CF7704Q28475526-B8A33A41-9706-4181-A89C-D858E69B292FQ28475687-3CF6D572-60F6-4988-8D4E-CBC007AC50EDQ30420432-657223FD-D0C4-460C-89F6-15054C4556D7Q33242572-D5DF68BC-A918-45E9-9DC5-BF73701F966DQ33548151-13A15803-50EA-4FE5-AE74-16A788F47377Q33578093-903F6CEC-152F-49C2-9892-9D9700F07D85Q33722784-D8A266D4-D1D3-4CD0-9D02-4AD21D070164Q33814899-6EA99623-75B8-461E-AE5D-F831FA833D79Q33821565-85818A15-42C8-4CF4-AA01-F318D45E5402Q33904943-7944ADB5-2E73-485B-A9A3-3BC26C78352AQ34098589-4F5D007E-DB7E-40DD-A057-162923C78B01Q34162933-0EDDF605-52DE-4783-B863-7F5AE360BBBCQ34293236-2A787202-94C7-4191-A4F7-43BEA7F8E758Q34591654-0DF5BEF7-02E0-4BC1-B6DF-C1F08D094698Q34600839-25538574-69EC-40F7-A821-4DD6C85A6681Q34601588-27EA3C2B-7957-4C7D-8C3E-C3D07C399CF4Q34607573-DBC994A5-E28E-4B14-BDDE-FE4D23FBB397Q34639597-1AB8675E-7870-49C2-9A03-E771678E6E01Q34657128-ED68DE4E-2907-4A14-BA27-102F81933ACDQ34986889-6D52C39F-A185-4598-A9FB-EE2FC0C638CBQ35678111-8F15BCCE-6810-40D9-963C-38FB1DE890A5Q36964568-99C3F2CF-99E8-4810-BF0C-695425E2D6BFQ36964573-FFE85FF5-5829-49B2-AB9F-0CC67EB7818CQ37708101-3D1F1D42-88D6-4540-8EBE-ED7B81C746C0Q38010826-87ACE46F-FF22-4BF7-AE89-558C32FA34D0Q38443406-B30F1056-7FFB-415C-92D2-815A8A745F7CQ38606830-227C3962-9FE5-46CD-94CE-B1756AC5A675Q38622509-C457F914-AAB6-412F-B991-6C46707F369FQ38630892-75AFAFC2-6C72-413F-A48D-5E4364912D6BQ38647653-B583C2D6-DE35-40C7-B64C-5D7568D3DEE7Q38793997-60DBC230-4D4F-4156-904E-9A1EB59A3029Q39344248-0FEBBF1D-B18D-48AF-8314-532EB7D9DE9EQ39469342-932EC2FD-2AEE-4A75-9BCB-5C5542E34DDCQ39634938-DE23C9C8-C88B-41CA-8E4B-6BC760C2D89CQ39713454-A8B6A531-C69E-48B9-9495-57B7C063714CQ39829862-C1E8EA5E-657C-4910-8212-E3E2503CC879
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Joaquín Arenas
@ast
Joaquín Arenas
@en
Joaquín Arenas
@es
Joaquín Arenas
@nl
type
label
Joaquín Arenas
@ast
Joaquín Arenas
@en
Joaquín Arenas
@es
Joaquín Arenas
@nl
altLabel
J. Olier Arenas
@en
Joaquin Arenas
@en
prefLabel
Joaquín Arenas
@ast
Joaquín Arenas
@en
Joaquín Arenas
@es
Joaquín Arenas
@nl
P1053
S-2758-2018
P106
P1153
23093205400
P21
P31
P4012
P496
0000-0002-2877-5049