Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations

Neurology

Volumn 81, Issue 21, 2013, Pages 1810-1818

  Auré, Karine ^a,b,c   Dubourg, Odile ^d   Jardel, Claude ^a,d   Clarysse, Lucie ^e,f   Sternberg, Damien ^d,g   Fournier, Emmanuel ^d,g,h   Laforêt, Pascal ^h   Streichenberger, Nathalie ^i,j   Petiot, Philippe ^k,l   Gervais Bernard, Hélène ^k,m   Vial, Christophe ^e,f   Bedat Millet, Anne Laure ⁿ   Drouin Garraud, Valérie ⁿ   Bouillaud, Frédéric ^o,p   Vandier, Christophe ^k,m   Fontaine, Bertrand ^a,d,g   Lombès, Anne ^a,o,p  

^a INSTITUT COCHIN   (France)

^b HÔPITAL AMBROISE PARÉ   (France)

^c LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e CHRU de Tours   (France)

^f UNIVERSITÉ DE TOURS   (France)

^g INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^h ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

ⁱ HOSPICES CIVILS DE LYON   (France)

^j UNIVERSITÉ LYON 1   (France)

^k Centre de Référence Maladies   (France)

^l CROIX ROUSSE HOSPITAL   (France)

^m HÔPITAL NEUROLOGIQUE   (France)

ⁿ ROUEN UNIVERSITY HOSPITAL   (France)

^o CNRS   (France)

^p UNIVERSITÉ PARIS DESCARTES   (France)

more..

Author keywords

ATP adenosine triphosphate; KCa Ca21 activated K1; MELAS mitochondrial encephalopathy with lactic acidosis and stroke like episodes; MtDNA mitochondrial DNA; OXPHOS oxidative phosphorylation

Indexed keywords

ADENOSINE TRIPHOSPHATE; CITRATE SYNTHASE; MITOCHONDRIAL DNA; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; REACTIVE OXYGEN METABOLITE;

ARTICLE; CEREBELLAR ATAXIA; COGNITIVE DEFECT; CONTROLLED STUDY; DIPLOPIA; EXON; FIBROBLAST; GAIT DISORDER; GENETIC ASSOCIATION; GENETIC SCREENING; HAIR FOLLICLE; HUMAN; INTRON; LEIGH DISEASE; LIMB WEAKNESS; MELAS SYNDROME; MEMBRANE DEPOLARIZATION; MEMBRANE STEADY POTENTIAL; MOTOR NEUROPATHY; MUTATIONAL ANALYSIS; OXIDATIVE PHOSPHORYLATION; OXIDATIVE STRESS; PATCH CLAMP TECHNIQUE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PYRAMIDAL SIGN; SEQUENCE ANALYSIS; SKIN CELL; VERTICAL TRANSMISSION; WILD TYPE;

ACETAZOLAMIDE; ADULT; ANTICONVULSANTS; CELLS, CULTURED; DNA, MITOCHONDRIAL; FEMALE; FIBROBLASTS; HUMANS; MALE; MELAS SYNDROME; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; PARALYSES, FAMILIAL PERIODIC; PEDIGREE; PHENOTYPE; SEQUENCE DELETION;

EID: 84891921068     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000436067.43384.0b     Document Type: Article

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