RELNandVLDLRmutations underlie two distinguishable clinico-radiological phenotypes

Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy

(2015) Emanuela Dazzo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The genetics of lissencephaly

(2014) Andrew E. Fry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Pontocerebellar hypoplasia

(2014) Sabine Rudnik-Schöneborn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

(2014) Ender Karaca et al.   CELL

Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

(2013) Farid Radmanesh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

(2013) Naiara Akizu et al.   CELL

Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics

(2013) Dan Doherty et al.   LANCET NEUROLOGY

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

(2012) Lydie Burglen et al.   Orphanet Journal of Rare Diseases

Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

(2011) Yasmin Namavar et al.   Orphanet Journal of Rare Diseases

Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)

(2009) Kym M. Boycott et al.   JOURNAL OF CHILD NEUROLOGY