Recurrent KIF2A mutations are responsible for classic lissencephaly

Disorders of Microtubule Function in Neurons: Imaging Correlates

(2015) C.A. Mutch et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

(2015) Mara Cavallin et al.   NEUROGENETICS

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

(2014) Nadia Bahi-Buisson et al.   BRAIN

Involvement of the kinesin family membersKIF4AandKIF5Cin intellectual disability and synaptic function

(2014) Marjolein H Willemsen et al.   JOURNAL OF MEDICAL GENETICS

Malformations of cortical development: clinical features and genetic causes

(2014) Renzo Guerrini et al.   LANCET NEUROLOGY

Somatic Mutations in Cerebral Cortical Malformations

(2014) Saumya S. Jamuar et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

(2013) Karine Poirier et al.   NATURE GENETICS

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

(2012) A. James Barkovich et al.   BRAIN

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

(2011) Claudia Dafinger et al.   JOURNAL OF CLINICAL INVESTIGATION

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

(2011) Audrey Putoux et al.   NATURE GENETICS

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

(2010) Ravinesh A. Kumar et al.   HUMAN MOLECULAR GENETICS

Altered Functional Connectivity in Frontal Lobe Circuits Is Associated with Variation in the Autism Risk Gene CNTNAP2

(2010) A. A. Scott-Van Zeeland et al.   Science Translational Medicine

LIS1-Related Isolated Lissencephaly

(2009) Yoann Saillour et al.   ARCHIVES OF NEUROLOGY