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Literature DB >> 26251641

Tubulinopathies and Their Brain Malformation Syndromes: Every TUB on Its Own Bottom.

Bernard S Chang.

Abstract

Entities: Gene

Year: 2015 PMID： 26251641 PMCID： PMC4519017 DOI： 10.5698/1535-7597-15.2.65

Source DB: PubMed Journal: Epilepsy Curr ISSN： 1535-7511 Impact factor: 7.500

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10 in total

1. GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

Authors: Nadia Bahi-Buisson; Karine Poirier; Nathalie Boddaert; Catherine Fallet-Bianco; Nicola Specchio; Enrico Bertini; Okay Caglayan; Karine Lascelles; Caroline Elie; Jérôme Rambaud; Michel Baulac; Isabelle An; Patricia Dias; Vincent des Portes; Marie Laure Moutard; Christine Soufflet; Monique El Maleh; Cherif Beldjord; Laurent Villard; Jamel Chelly
Journal: Brain Date: 2010-10-07 Impact factor: 13.501

Review 2. A classification scheme for malformations of cortical development.

Authors: A J Barkovich; R I Kuzniecky; W B Dobyns; G D Jackson; L E Becker; P Evrard
Journal: Neuropediatrics Date: 1996-04 Impact factor: 1.947

3. Complication begets clarification in classification.

Authors: James Barkovich
Journal: Brain Date: 2013-02 Impact factor: 13.501

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

Authors: Nadia Bahi-Buisson; Karine Poirier; Franck Fourniol; Yoann Saillour; Stéphanie Valence; Nicolas Lebrun; Marie Hully; Catherine Fallet Bianco; Nathalie Boddaert; Caroline Elie; Karine Lascelles; Isabelle Souville; Cherif Beldjord; Jamel Chelly
Journal: Brain Date: 2014-06 Impact factor: 13.501

Review 5. Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered.

Authors: Richard Jacob Leventer
Journal: J Child Neurol Date: 2005-04 Impact factor: 1.987

Review 6. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

Authors: C Geoffrey Woods; Jacquelyn Bond; Wolfgang Enard
Journal: Am J Hum Genet Date: 2005-03-31 Impact factor: 11.025

Review 7. Malformations of cortical development: burdens and insights from important causes of human epilepsy.

Authors: Sanjay M Sisodiya
Journal: Lancet Neurol Date: 2004-01 Impact factor: 44.182

8. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.

Authors: Kaya Bilgüvar; Ali Kemal Oztürk; Angeliki Louvi; Kenneth Y Kwan; Murim Choi; Burak Tatli; Dilek Yalnizoğlu; Beyhan Tüysüz; Ahmet Okay Cağlayan; Sarenur Gökben; Hande Kaymakçalan; Tanyeri Barak; Mehmet Bakircioğlu; Katsuhito Yasuno; Winson Ho; Stephan Sanders; Ying Zhu; Sanem Yilmaz; Alp Dinçer; Michele H Johnson; Richard A Bronen; Naci Koçer; Hüseyin Per; Shrikant Mane; Mehmet Necmettin Pamir; Cengiz Yalçinkaya; Sefer Kumandaş; Meral Topçu; Meral Ozmen; Nenad Sestan; Richard P Lifton; Matthew W State; Murat Günel
Journal: Nature Date: 2010-08-22 Impact factor: 49.962

Review 9. A developmental and genetic classification for malformations of cortical development: update 2012.

Authors: A James Barkovich; Renzo Guerrini; Ruben I Kuzniecky; Graeme D Jackson; William B Dobyns
Journal: Brain Date: 2012-03-16 Impact factor: 13.501

10. Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.

Authors: David A Keays; Guoling Tian; Karine Poirier; Guo-Jen Huang; Christian Siebold; James Cleak; Peter L Oliver; Martin Fray; Robert J Harvey; Zoltán Molnár; Maria C Piñon; Neil Dear; William Valdar; Steve D M Brown; Kay E Davies; J Nicholas P Rawlins; Nicholas J Cowan; Patrick Nolan; Jamel Chelly; Jonathan Flint
Journal: Cell Date: 2007-01-12 Impact factor: 41.582