Literature DB >> 23413256

Complication begets clarification in classification.

James Barkovich1.   

Abstract

Mesh：

Substances：

Year:  2013        PMID： 23413256      PMCID： PMC3572928          DOI： 10.1093/brain/awt001

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


× No keyword cloud information.
  13 in total

1.  A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.

Authors:  Romina Romaniello; Alessandra Tonelli; Filippo Arrigoni; Cinzia Baschirotto; Fabio Triulzi; Nereo Bresolin; Maria Teresa Bassi; Renato Borgatti
Journal:  Dev Med Child Neurol       Date:  2012-05-16       Impact factor: 5.449

2.  MRI analysis of sulcation morphology in polymicrogyria.

Authors:  Anthony James Barkovich
Journal:  Epilepsia       Date:  2010-02       Impact factor: 5.864

Review 3.  Centrosomes, microtubules and neuronal development.

Authors:  Marijn Kuijpers; Casper C Hoogenraad
Journal:  Mol Cell Neurosci       Date:  2011-05-23       Impact factor: 4.314

4.  Classification system for malformations of cortical development: update 2001.

Authors:  A J Barkovich; R I Kuzniecky; G D Jackson; R Guerrini; W B Dobyns
Journal:  Neurology       Date:  2001-12-26       Impact factor: 9.910

5.  Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

Authors:  Renzo Guerrini; Davide Mei; Duccio Maria Cordelli; Daniela Pucatti; Emilio Franzoni; Elena Parrini
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

6.  Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.

Authors:  Karine Poirier; Yoann Saillour; Nadia Bahi-Buisson; Xavier H Jaglin; Catherine Fallet-Bianco; Rima Nabbout; Laetitia Castelnau-Ptakhine; Agathe Roubertie; Tania Attie-Bitach; Isabelle Desguerre; David Genevieve; Christine Barnerias; Boris Keren; Nicolas Lebrun; Nathalie Boddaert; Féréchté Encha-Razavi; Jamel Chelly
Journal:  Hum Mol Genet       Date:  2010-09-09       Impact factor: 6.150

7.  An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

Authors:  Gustav Y Cederquist; Anna Luchniak; Max A Tischfield; Maya Peeva; Yuyu Song; Manoj P Menezes; Wai-Man Chan; Caroline Andrews; Sheena Chew; Robyn V Jamieson; Lavier Gomes; Maree Flaherty; Patricia Ellen Grant; Mohan L Gupta; Elizabeth C Engle
Journal:  Hum Mol Genet       Date:  2012-09-21       Impact factor: 6.150

8.  Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Authors:  Karine Poirier; David A Keays; Fiona Francis; Yoann Saillour; Nadia Bahi; Sylvie Manouvrier; Catherine Fallet-Bianco; Laurent Pasquier; Annick Toutain; Françoise Phan Dinh Tuy; Thierry Bienvenu; Sylvie Joriot; Sylvie Odent; Dorothée Ville; Isabelle Desguerre; Alice Goldenberg; Marie-Laure Moutard; Jean-Pierre Fryns; Hilde van Esch; Robert J Harvey; Christian Siebold; Jonathan Flint; Chérif Beldjord; Jamel Chelly
Journal:  Hum Mutat       Date:  2007-11       Impact factor: 4.878

9.  Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

Authors:  Xavier Hubert Jaglin; Karine Poirier; Yoann Saillour; Emmanuelle Buhler; Guoling Tian; Nadia Bahi-Buisson; Catherine Fallet-Bianco; Françoise Phan-Dinh-Tuy; Xiang Peng Kong; Pascale Bomont; Laëtitia Castelnau-Ptakhine; Sylvie Odent; Philippe Loget; Manoelle Kossorotoff; Irina Snoeck; Ghislaine Plessis; Philippe Parent; Cherif Beldjord; Carlos Cardoso; Alfonso Represa; Jonathan Flint; David Anthony Keays; Nicholas Justin Cowan; Jamel Chelly
Journal:  Nat Genet       Date:  2009-05-24       Impact factor: 38.330

10.  Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

Authors:  Max A Tischfield; Hagit N Baris; Chen Wu; Guenther Rudolph; Lionel Van Maldergem; Wei He; Wai-Man Chan; Caroline Andrews; Joseph L Demer; Richard L Robertson; David A Mackey; Jonathan B Ruddle; Thomas D Bird; Irene Gottlob; Christina Pieh; Elias I Traboulsi; Scott L Pomeroy; David G Hunter; Janet S Soul; Anna Newlin; Louise J Sabol; Edward J Doherty; Clara E de Uzcátegui; Nicolas de Uzcátegui; Mary Louise Z Collins; Emin C Sener; Bettina Wabbels; Heide Hellebrand; Thomas Meitinger; Teresa de Berardinis; Adriano Magli; Costantino Schiavi; Marco Pastore-Trossello; Feray Koc; Agnes M Wong; Alex V Levin; Michael T Geraghty; Maria Descartes; Maree Flaherty; Robyn V Jamieson; H U Møller; Ingo Meuthen; David F Callen; Janet Kerwin; Susan Lindsay; Alfons Meindl; Mohan L Gupta; David Pellman; Elizabeth C Engle
Journal:  Cell       Date:  2010-01-08       Impact factor: 41.582
View more
  5 in total

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

Authors:  Bernard S Chang
Journal:  Epilepsy Curr       Date:  2015 Mar-Apr       Impact factor: 7.500

2.  Identification of Distinct Psychosis Biotypes Using Brain-Based Biomarkers.

Authors:  Brett A Clementz; John A Sweeney; Jordan P Hamm; Elena I Ivleva; Lauren E Ethridge; Godfrey D Pearlson; Matcheri S Keshavan; Carol A Tamminga
Journal:  Am J Psychiatry       Date:  2015-12-07       Impact factor: 18.112

Review 3.  Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations.

Authors:  Aaron P Adam; Kurlen S E Payton; Pedro A Sanchez-Lara; Margaret P Adam; Ghayda M Mirzaa
Journal:  Am J Med Genet A       Date:  2021-05-03       Impact factor: 2.802

4.  Sliding of centrosome-unattached microtubules defines key features of neuronal phenotype.

Authors:  Anand N Rao; Aditi Falnikar; Eileen T O'Toole; Mary K Morphew; Andreas Hoenger; Michael W Davidson; Xiaobing Yuan; Peter W Baas
Journal:  J Cell Biol       Date:  2016-05-02       Impact factor: 10.539

Review 5.  Definitions and classification of malformations of cortical development: practical guidelines.

Authors:  Mariasavina Severino; Ana Filipa Geraldo; Norbert Utz; Domenico Tortora; Ivana Pogledic; Wlodzimierz Klonowski; Fabio Triulzi; Filippo Arrigoni; Kshitij Mankad; Richard J Leventer; Grazia M S Mancini; James A Barkovich; Maarten H Lequin; Andrea Rossi
Journal:  Brain       Date:  2020-10-01       Impact factor: 13.501
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.