Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations (Neurogenetics, (2016), 17, (65-70), 10.1007/s10048-015-0465-x);Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

Neurogenetics

Volumn 17, Issue 1, 2016, Pages 65-70

  Cao, Michelangelo ^a   Donà, Marta ^a   Valentino, Lucia ^b,c   Semplicini, Claudio ^a   Maresca, Alessandra ^c   Cassina, Matteo ^a   Torraco, Alessandra ^d   Galletta, Eva ^a   Manfioli, Valeria ^a   Sorarù, Gianni ^a   Carelli, Valerio ^b,c   Stramare, Roberto ^a   Bertini, Enrico ^d   Carozzo, Rosalba ^d   Salviati, Leonardo ^a   Pegoraro, Elena ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c BELLARIA HOSPITAL   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Mitochondrial biogenesis; MLASA; mtDNA copy number; PUS1

Indexed keywords

AZACITIDINE; CYCLOSPORIN A; DEFEROXAMINE; ENZYME; MITOCHONDRIAL DNA; PSEUDOURIDINE SYNTHASE 1; STEROID; THYMOCYTE ANTIBODY; UBIDECARENONE; UNCLASSIFIED DRUG; HYDROLYASE; PSEUDOURIDYLATE SYNTHETASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; CASE REPORT; CEREBELLUM ATROPHY; CORNEA DYSTROPHY; DNA DETERMINATION; DRUG MEGADOSE; ELECTROMYOGRAPHY; ERYTHROCYTE TRANSFUSION; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; IRON OVERLOAD; LACTIC ACIDOSIS; MILD COGNITIVE IMPAIRMENT; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; MYOPATHY LACTIC ACIDOSIS SIDEROBLASTIC ANEMIA SYNDROME; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESPIRATORY FAILURE; SIDEROBLASTIC ANEMIA; SKELETAL MUSCLE; CHEMISTRY; DNA MUTATIONAL ANALYSIS; GENETICS; MELAS SYNDROME; MITOCHONDRIAL MYOPATHY; MOLECULAR MODEL; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PROTEIN CONFORMATION; SURVIVOR; SYNDROME;

ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYDRO-LYASES; MAGNETIC RESONANCE IMAGING; MELAS SYNDROME; MITOCHONDRIAL MYOPATHIES; MODELS, MOLECULAR; MUTATION; PROTEIN CONFORMATION; SURVIVORS; SYNDROME;

EID: 84946763128     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-016-0501-5     Document Type: Erratum

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