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Chung, Seo-Kyung
Dempsey, Jennifer C.
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Mutations in alpha- and beta-tubulins are increasingly recognized as a major cause of malformations ...

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Fallet-Bianco, Catherine
Laquerrière, Annie
Poirier, Karine
Razavi, Ferechte
Guimiot, Fabien
Dias, Patricia
Loeuillet, Laurence
Lascelles, Karine
Beldjord, Cherif
Carion, Nathalie
Toussaint, Aurélie
Revencu, Nicole
Addor, Marie-Claude
Lhermitte, Benoit
Gonzales, Marie
Martinovich, Jelena
Bessieres, Bettina
Marcy-Bonnière, Maryse
Jossic, Frédérique
Marcorelles, Pascale
Loget, Philippe
Chelly, Jamel
Bahi-Buisson, Nadia

July 2014

International audienceComplex cortical malformations associated with mutations in tubulin genes are ...

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.

Fallet-Bianco, C.
Laquerrière, A.
Poirier, K.
Razavi, F.
Guimiot, F.
Dias, P.
Addor, M.C.
Loeuillet, L.
Lascelles, K.
Beldjord, C.
Carion, N.
Toussaint, A.
Revencu, N.
Lhermitte, B.
Gonzales, M.
Martinovich, J.
Bessieres, B.
Marcy-Bonnière, M.
Jossic, F.
Marcorelles, P.
Loget, P.
Chelly, J.
Bahi-Buisson, N.

January 2014

Complex cortical malformations associated with mutations in tubulin genes are commonly referred to a...

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: an unusual presentation of tubulinopathy

Laquerrière, Annie
Gonzales, Marie
Saillour, Yoann
Cavallin, Mara
Joyē, Nicole
Quēlin, Chloé
Bidat, Laurent
Dommergues, Marc
Plessis, Ghislaine
Encha-Razavi, Ferechte
Chelly, Jamel
Bahi-Buisson, Nadia
Poirier, Karine

January 2015

International audienceTubulinopathies are increasingly emerging major causes underlying complex cere...

Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development

Ataman, Esra
Edizer, Selvinaz
Gursoy, SEMRA
Olgac Dundar, Nihal
Gencpinar, Pinar
Unalp, Aycan
Gurbuz, Gurkan
GİRAY BOZKAYA, ÖZLEM
Aksel Kilicarslan, Ozge
ÜLGENALP, AYFER

January 2020

Background and aim: The number of reports on the role of tubulin gene mutations (TUBA1A, TUBB2B, and...

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

Oegema, Renske
Cushion, Thomas D.
Dobyns, William B.
Ishak, Gisele E.
Rees, Mark I.
Doherty, Dan
Phelps, Ian G.
Chung, Seo-Kyung
Dempsey, Jennifer C.
Collins, Sarah
Mullins, Jonathan G. L.
Dudding, Tracy
Gill, Harinder
Green, Andrew J.

January 2015

Mutations in alpha- and beta-tubulins are increasingly recognized as a major cause of malformations ...