Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2

Journal of Child Neurology

Volumn 29, Issue 4, 2014, Pages 520-525

  Battini, Roberta ^a   D'Arrigo, Stefano ^b   Cassandrini, Denise ^a   Guzzetta, Andrea ^a   Fiorillo, Chiara ^a   Pantaleoni, Chiara ^b   Romano, Alessandro ^c   Alfei, Enrico ^b   Cioni, Giovanni ^a,d   Santorelli, Filippo M ^a  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c UNIVERSITY OF SALENTO   (Italy)

^d UNIVERSITY OF PISA   (Italy)

Author keywords

genotype phenotype correlation; microcephaly; modeling; novel mutations; pontocerebellar hypoplasia; TSEN54 gene

Indexed keywords

ENDONUCLEASE; N ACETYLASPARTIC ACID; TRANSFER RIBONUCLEIC ACID SPLICING ENDONUCLEASE 54; UNCLASSIFIED DRUG; RIBONUCLEASE; TSEN54 PROTEIN, HUMAN;

ARTICLE; ATAXIC GAIT; AUTOSOMAL RECESSIVE DISORDER; BRAIN VENTRICLE DILATATION; CASE REPORT; CAUSE OF DEATH; CEREBELLAR ATAXIA; CEREBELLUM HYPOPLASIA; CHILD; DISEASE COURSE; DISEASE SEVERITY; DYSMETRIA; DYSPHAGIA; FEMALE; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LUNG INFECTION; MALE; MICROCEPHALY; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NERVE CELL DIFFERENTIATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PONTOCEREBELLAR HYPOPLASIA TYPE 2; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; BRAIN; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; OLIVOPONTOCEREBELLAR ATROPHIES; PATHOLOGY;

BRAIN; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ENDORIBONUCLEASES; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; OLIVOPONTOCEREBELLAR ATROPHIES;

EID: 84898980128     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812470002     Document Type: Article

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