Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Annals of Clinical and Translational Neurology

Volumn , Issue , 2015, Pages 492-509

  Haack, Tobias B ^a,b   Jackson, Christopher B ^c   Murayama, Kei ^d   Kremer, Laura S ^a,b   Schaller, André ^c   Kotzaeridou, Urania ^e   de Vries, Maaike C ^f   Schottmann, Gudrun ^g   Santra, Saikat ^h   Büchner, Boriana ⁱ   Wieland, Thomas ^a,b   Graf, Elisabeth ^a,b   Freisinger, Peter ^j   Eggimann, Sandra ^c   Ohtake, Akira ^k   Okazaki, Yasushi ^k   Kohda, Masakazu ^k   Kishita, Yoshihito ^k   Tokuzawa, Yoshimi ^k   Sauer, Sascha ^l   Memari, Yasin ^m   Kolb Kokocinski, Anja ^m   Durbin, Richard ^m   Hasselmann, Oswald ⁿ   Cremer, Kirsten ^o   Albrecht, Beate ^p   Wieczorek, Dagmar ^p   Engels, Hartmut ^o   Hahn, Dagmar ^c   Zink, Alexander M ^o   Alston, Charlotte L ^q   Taylor, Robert W ^q   Rodenburg, Richard J ^f   Trollmann, Regina ^r   Sperl, Wolfgang ^s   Strom, Tim M ^a,b   Hoffmann, Georg F ^e   Mayr, Johannes A ^s   Meitinger, Thomas ^a,b,t,u   Bolognini, Ramona ^c   Schuelke, Markus ^g   Nuoffer, Jean Marc ^c   Kölker, Stefan ^e   Prokisch, Holger ^a,b   Klopstock, Thomas ^i,t,u   more..

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c UNIVERSITY OF BERN   (Switzerland)

^d CHIBA CHILDREN'S HOSPITAL   (Japan)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^h BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

ⁱ LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^j Klinikum Reutlingen   (Germany)

^k SAITAMA MEDICAL UNIVERSITY   (Japan)

^l MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^m WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

ⁿ Kantonsspital St Gallen   (Switzerland)

^o UNIVERSITY OF BONN   (Germany)

^p UNIVERSITY HOSPITAL ESSEN   (Germany)

^q NEWCASTLE UNIVERSITY   (United Kingdom)

^r UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^s PARACELSUS MEDICAL UNIVERSITY   (Austria)

^t Munich Cluster for Systems Neurology ^*  (Germany)

^u GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; ENOYL COENZYME A HYDRATASE;

ARTICLE; CLINICAL ARTICLE; ELECTROENCEPHALOGRAPHY; ENERGY METABOLISM; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HEART FAILURE; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; IMMUNOBLOTTING; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; LEIGH DISEASE; MALE; MITOCHONDRIAL ENCEPHALOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PHENOTYPE; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY; TONIC CLONIC SEIZURE; URINARY EXCRETION; WESTERN BLOTTING;

EID: 84938210522     PISSN: None     EISSN: 23289503     Source Type: Journal    
DOI: 10.1002/acn3.189     Document Type: Article

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