Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

Neurology

Volumn 84, Issue 7, 2015, Pages 659-667

  Lossos, Alexander ^a   Stümpfig, Claudia ^b   Stevanin, Giovanni ^c,d,e,f   Gaussen, Marion ^c,d   Zimmerman, Bat El ^a   Mundwiller, Emeline ^d,f   Asulin, Moriya ^a   Chamma, Liat ^a   Sheffer, Ruth ^a   Misk, Adel ^g   Dotan, Shlomo ^a   Gomori, John M ^a   Ponger, Penina ^a   Brice, Alexis ^d,e,f   Lerer, Israela ^a   Meiner, Vardiella ^a   Lill, Roland ^b,h,i  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

^c PSL RESEARCH UNIVERSITY   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

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

^g SHAARE ZEDEK MEDICAL CENTER   (Israel)

^h MAX PLANCK INSTITUTE FOR TERRESTRIAL MICROBIOLOGY   (Germany)

ⁱ Offensive for the Development of Scientific and Economic Excellence of the State of Hesse LOEWE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

IBA57 PROTEIN; IRON SULFUR PROTEIN; MESSENGER RNA; PROTEIN; UNCLASSIFIED DRUG; CARRIER PROTEIN; IBA57 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN;

ADULT; ADULTHOOD; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 1Q; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOLOGY; DISEASE COURSE; DONOR; ENCEPHALOMYOPATHY; EXOME; FAMILY; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENOME; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; LYMPHOBLAST; MALE; MIDDLE AGED; MOLECULAR BIOLOGY; ONSET AGE; OPTIC NERVE ATROPHY; PERINATAL MORBIDITY; PERIPHERAL NEUROPATHY; PHENOTYPE; PHYSIOLOGICAL PROCESS; PRIORITY JOURNAL; PROTEIN ASSEMBLY; RNA SPLICING; SCHOOL CHILD; SPASTIC PARAPLEGIA OPTIC ATROPHY AND PERIPHERAL NEUROPATHY; STOP CODON; WILD TYPE; YOUNG ADULT; CELL LINE; GENETIC LINKAGE; GENETICS; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

ADULT; AGED; CARRIER PROTEINS; CELL LINE; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETIC LINKAGE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; RNA SPLICING; RNA, MESSENGER; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84923248009     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001270     Document Type: Article

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