Concepedia

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

Alice Masurel‐Paulet, Eric Haan, Elizabeth M. Thompson, Cyril Goizet, Christel Thauvin‐Robinet, Andrew W. Tai, Declan Kennedy, Greg Smith, T. Yee Khong, Guilhem Solé,

European Journal of Medical Genetics · 2010 · 70 citations · 18 references

DOI

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References

18

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

Jeremy W. Fox, Edward D. Lamperti, Yaman Z. Ekşioğlu et al. · Neuron · 1998 · 873 citations · Full text

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith et al. · Nature Genetics · 2003 · 429 citations · Full text

, , +11

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

Volney Sheen, Vijay Ganesh, Meral Topçu et al. · Nature Genetics · 2003 · 390 citations · Full text

, , +16

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

Elena Parrini · Brain · 2006 · 358 citations

, , +17

Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

Yaman Z. Ekşioğlu, Ingrid E. Scheffer, Pedro Cárdenas et al. · Neuron · 1996 · 299 citations · Full text

, , +17