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Volumn 1, Issue 1, 2014, Pages 75-90

Mutations in the mitochondrial citrate carrier SLC25A1 are associated with impaired neuromuscular transmission

(25)  Chaouch, Amina a   Porcelli, Vito b   Cox, Daniel a   Edvardson, Shimon c   Scarcia, Pasquale b   De Grassi, Anna b   Pierri, Ciro L b   Cossins, Judith d   Laval, Steven H a   Griffin, Helen a   Müller, Juliane S a   Evangelista, Teresinha a   Töpf, Ana a   Abicht, Angela e,f   Huebner, Angela g   Von Der Hagen, Maja g   Bushby, Kate a   Straub, Volker a   Horvath, Rita a   Elpeleg, Orly c   more..

i CNR   (Italy)

Author keywords

Congenital myasthenic syndrome; Mitochondrial citrate carrier; Neuromuscular junction; SLC25A1

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CAUCASIAN; CLINICAL ARTICLE; CONGENITAL MYASTHENIC SYNDROME; DISEASE SEVERITY; DYSARTHRIA; ELECTROMYOGRAPHY; EXON; GENE EXPRESSION; GENE FUNCTION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFORMED CONSENT; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; NEUROMUSCULAR TRANSMISSION; NEUROPHYSIOLOGY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SLC25A1 GENE; YOUNG ADULT;

EID: 84926323436     PISSN: 22143599     EISSN: 22143602     Source Type: Journal    
DOI: 10.3233/JND-140021     Document Type: Article
Times cited : (70)

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