The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) geneLoss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseMPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionhCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assemblyCopper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutationsADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiencyNavajo neurohepatopathy is caused by a mutation in the MPV17 geneInfantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.Mutation screening in patients with isolated cytochrome c oxidase deficiencyCytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann diseaseMitochondrial DNA depletion and dGK gene mutationsNew DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndromeNovel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh SyndromeMitochondrial disorders in the nervous systemTargeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemiaTMEM14C is required for erythroid mitochondrial heme metabolismMitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg LectureHistorical perspective on mitochondrial medicineInsulin sensitivity in Belgian horses with polysaccharide storage myopathyMitochondrial dysfunction as a neurobiological subtype of autism spectrum disorder: evidence from brain imaging.A novel mouse model that recapitulates adult-onset glycogenosis type 4A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO).A functionally dominant mitochondrial DNA mutation.Muscle coenzyme Q10 level in statin-related myopathy.Therapeutic prospects for mitochondrial disease.Coenzyme Q deficiency in muscle.Phospholipid abnormalities in children with Barth syndrome.Fatal infantile neuromuscular presentation of glycogen storage disease type IV.Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation.Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.Coenzyme Q-responsive Leigh's encephalopathy in two sisters.Metabolic myopathies.Clinical features and genetics of myoclonic epilepsy with ragged red fibers.Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathyMitochondrial DNA medicine.Giuseppe Attardi, MD (1923-2008).Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects.
P50
Q24301853-796A7CA4-E781-46EA-B6C3-F53CA493581CQ24308200-A9829815-97F0-4D96-B2DD-848DC65A2360Q24313262-2B0946D5-66BE-4EA4-B9F2-89F95484739EQ24337811-4DF50E8C-AD21-4D6A-A7C3-2F812479E0E9Q24534079-7FCA3DFA-7825-4205-8604-BE5B06073647Q24656191-EC9A993C-355F-4C18-AF90-E4A7F5045A77Q24678502-837E3DDE-E2F2-40E4-BF2F-CA1FCF95DC65Q27930570-5DDE19BC-C9A9-487C-B008-ECFCF7CD9D46Q28204376-98848EC6-CB3D-4081-813D-551F0F009B25Q28218346-94EFD316-E952-42FE-99B0-658D99B203BAQ28219880-7B754518-C680-4B98-8FF7-6B707C35EE62Q28249505-DFA06B0E-768E-45C2-B87F-60C203B28E0AQ28268318-96839FE2-21D9-479D-BFF4-B9CE4DBBA38EQ28272320-701241EB-0F16-493F-93E6-E6DA9400E8C7Q28295609-B29E1D62-22E8-4465-AEA1-EF884217B5C4Q28505553-6BBDE82C-CF97-4639-A97D-281B489F2E11Q28657573-118B889B-6769-43BA-988A-5DD1443C1F1CQ28661465-522F25D4-35F1-4BCC-B3F6-783DBFFF342DQ29307520-4DF09571-2CE2-4E74-8EDB-29360ADDCDA8Q30600526-A936596C-6FC1-43AA-A510-DE8693377AB4Q30673108-B1A3A7D5-B1A8-4617-9CAE-E5C595000241Q33578068-65E8A183-D2F0-4E90-9D42-C946D542AC59Q33671457-9E1AC697-631B-49CE-B9D9-61728C9C28D2Q33737397-E26D6807-A914-423E-92DD-80179376479AQ33979047-619A2C25-BC72-48FA-92FB-F361C1D0698DQ33991432-74315B00-484C-44BC-BCC5-FD66D07E3888Q34205124-9C32B02B-5A2B-478E-88ED-016A60487F89Q34208323-24C5C501-BAE8-4FBE-8A04-941A481965FAQ34281992-4D6820EB-92B3-4CFB-B1A2-363D08873821Q34305689-A8396D97-95B1-4B43-BF2D-6B55AE992A1FQ34321683-8EA0F938-A66D-4F6D-8E7B-5B87C034BD33Q34378808-BD6852AC-7A14-4E58-90FF-EAE0BF2B8F18Q34402933-35DFE693-9412-4222-A0B0-660E61155701Q34529313-5F78A3BF-3328-4CBA-B8A9-D74FA528F168Q34573554-7F3E94F7-05EC-4FAF-90BF-C6DE04A96BFBQ34610364-6A5B755F-9C7F-45F2-AC9D-2A8675440F91Q34613027-DCE64876-497C-493A-B2F9-91110DCB455AQ34625963-35C03A49-321F-48D6-98C8-48A7A1742C0DQ34823034-6DBB8D3D-4CA3-45C7-9D4F-C7E34F3E3F35Q34981294-B2EE8903-3EC7-4D32-9857-07C20E2C4DEB
P50
description
Italian neurologist
@en
italienischer Neurowissenschaftler
@de
neurocientífico italiano
@es
neurocientíficu italianu
@ast
عالم أعصاب إيطالي
@ar
name
Salvatore DiMauro
@ast
Salvatore DiMauro
@ca
Salvatore DiMauro
@de
Salvatore DiMauro
@en
Salvatore DiMauro
@es
Salvatore DiMauro
@fr
Salvatore DiMauro
@ga
Salvatore DiMauro
@it
Salvatore DiMauro
@nl
Salvatore DiMauro
@sl
type
label
Salvatore DiMauro
@ast
Salvatore DiMauro
@ca
Salvatore DiMauro
@de
Salvatore DiMauro
@en
Salvatore DiMauro
@es
Salvatore DiMauro
@fr
Salvatore DiMauro
@ga
Salvatore DiMauro
@it
Salvatore DiMauro
@nl
Salvatore DiMauro
@sl
prefLabel
Salvatore DiMauro
@ast
Salvatore DiMauro
@ca
Salvatore DiMauro
@de
Salvatore DiMauro
@en
Salvatore DiMauro
@es
Salvatore DiMauro
@fr
Salvatore DiMauro
@ga
Salvatore DiMauro
@it
Salvatore DiMauro
@nl
Salvatore DiMauro
@sl
P1006
P1015
P214
P244
P268
P269
P1006
P1015
P1207
n2010300716
P1343
P19
P21
P213
0000 0000 0017 6453
P214
P244
nr92022377
P268
P269
P27
P31
P569
1939-11-14T00:00:00Z