… Boltshauser E. Cerebellum: small brain but large confusion—a review of selected
cerebellar malformations and disruptions. Am J Med Genet A 2004;126A(4):376–385. …

Congenital indifference to pain (CIP) is a rare condition in which patients have severely
impaired pain perception, but are otherwise essentially normal. We identified and collected DNA …

… a re-review of the MRI for cerebellar hemisphere dysplasia, cerebellar cysts, and patchy
increased T2/FLAIR signal in the cortical white matter, characteristic of Poretti–Boltshauser …

… RNA blot analysis of whole mouse embryo showed roughly equal expression at
embryonic day (E)7–E17. Cep290 was expressed in multiple organs during early postnatal …

Individually, metabolic disorders are rare, but overall they account for a significant number
of neonatal disorders affecting the central nervous system. The neonatal clinical …

Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are
ciliopathies. We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by …

Childhood craniopharyngiomas are histologically benign tumours arising from remnants of
Rathke's pouch in the hypothalamic–pituitary region. The two common treatment approaches …

… (e,f) Ventral pons at gestational age 21 weeks. (e) Groups of immature small neurons
separated by bundles of nerve fibers. Scale bar, 100 μm. (f) Higher magnification of e showing …

The clinical presentation of children with Joubert syndrome can include nonspecific features
such as hypotonia, ataxia, and developmental delay. Careful examination of the face shows …

Joubert syndrome–related disorders (JSRDs) are a group of clinically and genetically
heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS…