A developmental and genetic classification for midbrain-hindbrain malformations

Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

(2009) DJ Morris-Rosendahl et al.   CLINICAL GENETICS

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

(2009) F Brancati et al.   CLINICAL GENETICS

GPR56-Regulated Granule Cell Adhesion Is Essential for Rostral Cerebellar Development

(2009) S. Koirala et al.   JOURNAL OF NEUROSCIENCE

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

(2009) Kimberly A Aldinger et al.   NATURE GENETICS

Cerebellar vermal volumes and behavioral correlates in children with autism spectrum disorder

(2009) Sara Jane Webb et al.   PSYCHIATRY RESEARCH-NEUROIMAGING

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

(2008) Vincent Cantagrel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

(2008) Nicholas T. Gorden et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pontine Tegmental Cap Dysplasia: MR Imaging and Diffusion Tensor Imaging Features of Impaired Axonal Navigation

(2008) P. Jissendi-Tchofo et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A

(2008) Catherine Fallet-Bianco et al.   BRAIN

Morphological spectrum of prenatal cerebellar disruptions

(2008) Andrea Poretti et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

(2008) Ali Jalali et al.   HUMAN GENETICS

Ethnically diverse causes of Walker-Warburg syndrome (WWS):FCMDmutations are a more common cause of WWS outside of the Middle East

(2008) M. Chiara Manzini et al.   HUMAN MUTATION

MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

(2008) Francesco Brancati et al.   HUMAN MUTATION

Accurate Balance of the Polarity Kinase MARK2/Par-1 Is Required for Proper Cortical Neuronal Migration

(2008) T. Sapir et al.   JOURNAL OF NEUROSCIENCE

GPR56 Regulates Pial Basement Membrane Integrity and Cortical Lamination

(2008) S. Li et al.   JOURNAL OF NEUROSCIENCE

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

(2008) Birgit S Budde et al.   NATURE GENETICS

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

(2008) Juliane Najm et al.   NATURE GENETICS

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

(2008) L. Van Maldergem et al.   NEUROLOGY

The molar tooth sign: A new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families

(2008) M. S. Zaki et al.   NEUROLOGY

Human CHN1 Mutations Hyperactivate  2-Chimaerin and Cause Duane's Retraction Syndrome

(2008) N. Miyake et al.   SCIENCE

Biochemical characterization of genetic mutations of GPR56 in patients with bilateral frontoparietal polymicrogyria (BFPP)

(2007) Ning Ke et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

(2007) Valeska Frank et al.   HUMAN MUTATION