Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1

American Journal of Human Genetics

Volumn 91, Issue 1, 2012, Pages 5-14

  Zhou, Jie ^a   Tawk, Marcel ^a   Tiziano, Francesco Danilo ^b   Veillet, Julien ^a   Bayes, Monica ^c   Nolent, Flora ^a   Garcia, Virginie ^d   Servidei, Serenella ^b   Bertini, Enrico ^e   Castro Giner, Francesc ^c   Renda, Yavuz ^f   Carpentier, Stéphane ^d   Andrieu Abadie, Nathalie ^d   Gut, Ivo ^c   Levade, Thierry ^d,g   Topaloglu, Haluk ^f   Melki, Judith ^a  

^a Universite Paris Sud   (France)

^b CATHOLIC UNIVERSITY   (Italy)

^c UNIVERSITY OF BARCELONA   (Spain)

^d INSERM   (France)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f HACETTEPE UNIVERSITY   (Turkey)

^g TOULOUSE UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACID CERAMIDASE; ANTISENSE MORPHOLINO OLIGONUCLEOTIDE; ANTISENSE OLIGONUCLEOTIDE; COMPLEMENTARY DNA; MORPHOLINO OLIGONUCLEOTIDE; UNCLASSIFIED DRUG;

ADOLESCENT; ANIMAL CELL; ANIMAL EXPERIMENT; APOPTOSIS; ARTHRALGIA; ARTICLE; CELL LOSS; CENTRAL NERVOUS SYSTEM; CHILD; CONTROLLED STUDY; DISEASE COURSE; EMBRYO; ENZYME ACTIVITY; EXOME; EXON; FARBER DISEASE; FEMALE; FIBROBLAST; GENE DELETION; GENE EXPRESSION; GENE MAPPING; GENE SEQUENCE; GENE SILENCING; HOARSENESS; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LINKAGE ANALYSIS; MISSENSE MUTATION; MOTONEURON; MYOCLONUS EPILEPSY; NERVE FIBER GROWTH; NONHUMAN; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SPINAL CORD; SPINAL MUSCULAR ATROPHY; ZEBRA FISH;

ACID CERAMIDASE; ADOLESCENT; ANIMALS; CHILD; CHILD, PRESCHOOL; FEMALE; GENE KNOCKDOWN TECHNIQUES; HUMANS; MALE; MUTATION; MYOCLONIC EPILEPSIES, PROGRESSIVE; PEDIGREE; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; ZEBRAFISH;

DANIO RERIO;

EID: 84863980515     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.05.001     Document Type: Article

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