Pontocerebellar hypoplasia type 6 caused by mutations in RARS2 : definition of the clinical spectrum and molecular findings in five patients

By Cassandrini Denise  

Journal of Inherited Metabolic Disease, Vol. 36, Iss. 1, 2013-01 ,pp. : 43-53

Springer Publishing Company

Access to resources Recommend Favorite

Agenesis of the Mesencephalon and Metencephalon with Cerebellar Hypoplasia: Putative Mutation in the Gene—Report of 2 Cases in Early Infancy

By Sarnat Harvey   Benjamin Denis   Siebert Joseph   Kletter Gad   Cheyette Sarah  

Pediatric and Developmental Pathology, Vol. 5, Iss. 1, 2002-01 ,pp. : 54-68

Springer Publishing Company

Access to resources Recommend Favorite

Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia

By Kono Tatsuo  

Pediatric Radiology, Vol. 38, Iss. 10, 2008-10 ,pp. : 1105-1108

Springer Publishing Company

Access to resources Recommend Favorite

CEREBELLAR MIGRATION DEFECTS IN AICARDI SYNDROME: AN EXTENSION OF THE NEUROPATHOLOGICAL SPECTRUM

By Steffensen Thora   Gilbert-Barness Enid   Lacson Atillano   Margo Curtis  

Fetal and Pediatric Pathology, Vol. 28, Iss. 1, 2009-02 ,pp. : 24-38

Informa Healthcare

Access to resources Recommend Favorite

Disrupted cerebellar development in preterm infants is associated with impaired neurodevelopmental outcome

By Messerschmidt Agnes  

European Journal of Pediatrics, Vol. 167, Iss. 10, 2008-10 ,pp. : 1141-1147

Springer Publishing Company

Access to resources Recommend Favorite