William B Dobyns

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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

Kunio Kitamura, Masako Yanazawa, +18 authors Ken-ichirou Morohashi
Nature Genetics
2002

Male embryonic mice with mutations in the X-linked aristaless-related homeobox gene (Arx) developed with small brains due to suppressed proliferation and regional deficiencies in the forebrain. These… (More)

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

Olga Zhuchenko, Jennifer Bailey, +7 authors Cheng Chi Lee
Nature Genetics
1997

A polymorphic CAG repeat was identified in the human α1A voltage-dependent calcium channel subunit. To test the hypothesis that expansion of this CAG repeat could be the cause of an inherited… (More)

Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia

Jeremy W Fox, Edward D. Lamperti, +10 authors Christopher A. Walsh
Neuron
1998

Long-range, directed migration is particularly dramatic in the cerebral cortex, where postmitotic neurons generated deep in the brain migrate to form layers with distinct form and function. In the… (More)

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.

Orly Reiner, Romeo Carrozzo, +5 authors D. H. Ledbetter
Nature
1993

Lissencephaly (agyria-pachygyria) is a human brain malformation manifested by a smooth cerebral surface and abnormal neuronal migration. Identification of the gene(s) involved in this disorder would… (More)

doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein

Joseph G Gleeson, Kristina M. Allen, +8 authors Christopher A. Walsh
Cell
1998

X-linked lissencephaly and "double cortex" are allelic human disorders mapping to Xq22.3-Xq23 associated with arrest of migrating cerebral cortical neurons. We identified a novel 10 kb brain-specific… (More)

A developmental and genetic classification for malformations of cortical development: update 2012

A. James Barkovich, Renzo Guerrini, Ruben I. Kuzniecky, Graeme D. Jackson, William B Dobyns
Brain : a journal of neurology
2012

Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders… (More)

A developmental and genetic classification for malformations of cortical development.

A. James Barkovich, Ruben I. Kuzniecky, Graeme D. Jackson, Renzo Guerrini, William B Dobyns
Neurology
2005

Increasing recognition of malformations of cortical development and continuing improvements in imaging techniques, molecular biologic techniques, and knowledge of mechanisms of brain development have… (More)

Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

Christopher M. Gomez, Randall M Thompson, +6 authors John H. Anderson
Annals of neurology
1997

Spinocerebellar ataxia type 6 (SCA6) was recently identified as a form of autosomal dominant cerebellar ataxia associated with small expansions of the trinucleotide repeat (CAG)n in the gene CACNL1A4… (More)

Recurrent 16p11.2 microdeletions in autism.

Ravinesh A. Kumar, Samer Karamohamed, +8 authors Susan L. Christian
Human molecular genetics
2008

Autism is a childhood neurodevelopmental disorder with a strong genetic component, yet the identification of autism susceptibility loci remains elusive. We investigated 180 autism probands and 372… (More)

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

Ravinesh A. Kumar, Daniela T. Pilz, +10 authors William B Dobyns
Human molecular genetics
2010

We previously showed that mutations in LIS1 and DCX account for approximately 85% of patients with the classic form of lissencephaly (LIS). Some rare forms of LIS are associated with a… (More)

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