Neurogenetics

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.

Developing the field of neurogenetics.

Developing the field of neurogenetics.

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

COL25A1 triggers and promotes Alzheimer's disease-like pathology in vivo.

COL25A1 triggers and promotes Alzheimer's disease-like pathology in vivo.

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.

Bioinformatic analysis of human CNS-expressed ion channels as candidates for episodic nervous system disorders.

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