Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies

Neurology

Volumn 75, Issue 16, 2010, Pages 1459-1464

  Cassandrini, D ^a   Biancheri, R ^a   Tessa, A ^b   Di Rocco, M ^a   Di Capua, M ^c   Bruno, C ^b   Denora, P S ^c   Sartori, S ^d   Rossi, A ^a   Nozza, P ^a   Emma, F ^c   Mezzano, P ^a   Politi, M R ^e   Laverda, A M ^d   Zara, F ^a   Pavone, L ^e   Simonati, A ^f   Leuzzi, V ^g   Santorelli, F M ^b   Bertini, E ^c  

^a G GASLINI INSTITUTE   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

^e UNIVERSITY OF CATANIA   (Italy)

^f UNIVERSITY OF VERONA   (Italy)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ENDONUCLEASE; TRNA SPLICING ENDONUCLEASE 15; TRNA SPLICING ENDONUCLEASE 2; TRNA SPLICING ENDONUCLEASE 34; TRNA SPLICING ENDONUCLEASE 54; UNCLASSIFIED DRUG; VALINE; RIBONUCLEASE; SPLICING ENDONUCLEASE;

ADOLESCENT; ALLELE; ARTICLE; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INDEL MUTATION; INFANT; ITALY; KIDNEY TUBULE DISORDER; MALE; MOLECULAR GENETICS; MUTANT; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PONTOCEREBELLAR HYPOPLASIA 2; PONTOCEREBELLAR HYPOPLASIA 4; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; BRAIN DISEASE; CEREBELLUM; CLASSIFICATION; CLINICAL TRIAL; FAMILY HEALTH; GENETICS; METHODOLOGY; MULTICENTER STUDY; MUTATION; NEWBORN; PATHOLOGY; PONS;

ADOLESCENT; BRAIN DISEASES; CEREBELLUM; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; ENDORIBONUCLEASES; FAMILY HEALTH; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; ITALY; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PONS; RETROSPECTIVE STUDIES;

EID: 78049510720     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181f88173     Document Type: Article

References (10)

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