PMC Links for Books (Select 4228782) - PMC

Select item 66788211.

Epilepsy in Tubulinopathy: Personal Series and Literature Review

Romina Romaniello, Claudio Zucca, Filippo Arrigoni, Paolo Bonanni, Elena Panzeri, Maria T. Bassi, Renato Borgatti

Cells. 2019 Jul; 8(7): 669. Published online 2019 Jul 2. doi: 10.3390/cells8070669

PMCID:: PMC6678821

Select item 63714962.

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp

Orphanet J Rare Dis. 2019; 14: 38. Published online 2019 Feb 11. doi: 10.1186/s13023-019-1020-x

PMCID:: PMC6371496

Article PDF–6.1M

Select item 60579223.

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

Stefanie Brock, Katrien Stouffs, Emmanuel Scalais, Marc D’Hooghe, Kathelijn Keymolen, Renzo Guerrini, William B. Dobyns, Nataliya Di Donato, Anna C. Jansen

Eur J Hum Genet. 2018 Aug; 26(8): 1132–1142. Published online 2018 Apr 30. doi: 10.1038/s41431-018-0146-y

PMCID:: PMC6057922

Article PDF–3.3M

Select item 55264464.

Lissencephaly: expanded imaging and clinical classification

Nataliya Di Donato, Sara Chiari, Ghayda M. Mirzaa, Kimberly Aldinger, Elena Parrini, Carissa Olds, A. James Barkovich, Renzo Guerrini, William B. Dobyns

Am J Med Genet A. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: Am J Med Genet A. 2017 Jun; 173(6): 1473–1488. Published online 2017 Apr 25. doi: 10.1002/ajmg.a.38245

PMCID:: PMC5526446

Article PDF–1.5M

Select item 49298845.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

Julia Lauer Zillhardt, Karine Poirier, Loïc Broix, Nicolas Lebrun, Adrienne Elmorjani, Jelena Martinovic, Yoann Saillour, Giuseppe Muraca, Juliette Nectoux, Bettina Bessieres, Catherine Fallet-Bianco, Stanislas Lyonnet, Olivier Dulac, Sylvie Odent, Imen Rejeb, Lamia Ben Jemaa, Francois Rivier, Lucile Pinson, David Geneviève, Yuri Musizzano, Nicole Bigi, Nicolas Leboucq, Fabienne Giuliano, Nicole Philip, Catheline Vilain, Patrick Van Bogaert, Hélène Maurey, Cherif Beldjord, François Artiguenave, Anne Boland, Robert Olaso, Cécile Masson, Patrick Nitschké, Jean-François Deleuze, Nadia Bahi-Buisson, Jamel Chelly

Eur J Hum Genet. 2016 Apr; 24(4): 611–614. Published online 2015 Sep 23. doi: 10.1038/ejhg.2015.192

PMCID:: PMC4929884

Article PDF–791K

Select item 47927646.

Disorders of Microtubule Function in Neurons: Imaging Correlates

C.A. Mutch, A. Poduri, M. Sahin, B. Barry, C.A. Walsh, A.J. Barkovich

AJNR Am J Neuroradiol. 2016 Mar; 37(3): 528–535. doi: 10.3174/ajnr.A4552

PMCID:: PMC4792764

Article PDF–1.8M

Select item 45508187.

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

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

Hum Mol Genet. 2015 Sep 15; 24(18): 5313–5325. Published online 2015 Jun 30. doi: 10.1093/hmg/ddv250

PMCID:: PMC4550818

Article PDF–960K

Select item 45447538.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 42222689.

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

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

Acta Neuropathol Commun. 2014; 2: 69. Published online 2014 Jul 25. doi: 10.1186/2051-5960-2-69

PMCID:: PMC4222268

Article PDF–2.1M

Select item 398041810.

De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

Thomas D. Cushion, Alex R. Paciorkowski, Daniela T. Pilz, Jonathan G.L. Mullins, Laurie E. Seltzer, Robert W. Marion, Emily Tuttle, Dalia Ghoneim, Susan L. Christian, Seo-Kyung Chung, Mark I. Rees, William B. Dobyns

Am J Hum Genet. 2014 Apr 3; 94(4): 634–641. doi: 10.1016/j.ajhg.2014.03.009

PMCID:: PMC3980418

Article PDF–2.4M

Select item 382625611.

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

Karine Poirier, Nicolas Lebrun, Loic Broix, Guoling Tian, Yoann Saillour, Cécile Boscheron, Elena Parrini, Stephanie Valence, Benjamin SaintPierre, Madison Oger, Didier Lacombe, David Geneviève, Elena Fontana, Franscesca Darra, Claude Cances, Magalie Barth, Dominique Bonneau, Bernardo Dalla Bernadina, Sylvie N’Guyen, Cyril Gitiaux, Philippe Parent, Vincent des Portes, Jean Michel Pedespan, Victoire Legrez, Laetitia Castelnau-Ptakine, Patrick Nitschke, Thierry Hieu, Cecile Masson, Diana Zelenika, Annie Andrieux, Fiona Francis, Renzo Guerrini, Nicholas J. Cowan, Nadia Bahi-Buisson, Jamel Chelly

Nat Genet. Author manuscript; available in PMC 2013 Nov 13.

Published in final edited form as: Nat Genet. 2013 Jun; 45(6): 10.1038/ng.2613. Published online 2013 Apr 21. doi: 10.1038/ng.2613

Correction in:: volume 45 on page 962

PMCID:: PMC3826256

Article PDF–2.2M

Select item 359832812.

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

Karine Poirier, Yoann Saillour, Franck Fourniol, Fiona Francis, Isabelle Souville, Stéphanie Valence, Isabelle Desguerre, Jean Marie Lepage, Nathalie Boddaert, Marine Line Jacquemont, Cherif Beldjord, Jamel Chelly, Nadia Bahi-Buisson

Eur J Hum Genet. 2013 Apr; 21(4): 381–385. Published online 2012 Sep 5. doi: 10.1038/ejhg.2012.195

PMCID:: PMC3598328

Article PDF–1.2M

Select item 359560513.

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

Martin Breuss, Julian Ik-Tsen Heng, Karine Poirier, Guoling Tian, Xavier Hubert Jaglin, Zhengdong Qu, Andreas Braun, Thomas Gstrein, Linh Ngo, Matilda Haas, Nadia Bahi-Buisson, Marie-Laure Moutard, Sandrine Passemard, Alain Verloes, Pierre Gressens, Yunli Xie, Kathryn J.H. Robson, Deepa Selvi Rani, Kumarasamy Thangaraj, Tim Clausen, Jamel Chelly, Nicholas Justin Cowan, David Anthony Keays

Cell Rep. 2012 Dec 27; 2(6): 1554–1562. doi: 10.1016/j.celrep.2012.11.017

PMCID:: PMC3595605

Article

Select item 342111314.

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

Renzo Guerrini, Davide Mei, Duccio Maria Cordelli, Daniela Pucatti, Emilio Franzoni, Elena Parrini

Eur J Hum Genet. 2012 Sep; 20(9): 995–998. Published online 2012 Feb 15. doi: 10.1038/ejhg.2012.21

PMCID:: PMC3421113

Article PDF–288K

Select item 329885015.

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

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

Hum Mol Genet. 2010 Nov 15; 19(22): 4462–4473. Published online 2010 Sep 9. doi: 10.1093/hmg/ddq377

PMCID:: PMC3298850

Article PDF–642K

Select item 316411716.

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

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, Jr., David Pellman, Elizabeth C. Engle

Cell. Author manuscript; available in PMC 2011 Sep 1.

Published in final edited form as: Cell. 2010 Jan 8; 140(1): 74–87. doi: 10.1016/j.cell.2009.12.011

PMCID:: PMC3164117

Article PDF–5.5M

Select item 289381217.

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

Ravinesh A. Kumar, Daniela T. Pilz, Timothy D. Babatz, Thomas D. Cushion, Kirsten Harvey, Maya Topf, Laura Yates, Stephanie Robb, Gökhan Uyanik, Gracia M.S. Mancini, Mark I. Rees, Robert J. Harvey, William B. Dobyns

Hum Mol Genet. 2010 Jul 15; 19(14): 2817–2827. Published online 2010 May 12. doi: 10.1093/hmg/ddq182

PMCID:: PMC2893812

Article PDF–567K

Select item 118035418.

Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

Carlos Cardoso, Richard J. Leventer, Heather L. Ward, Kazuhito Toyo-oka, June Chung, Alyssa Gross, Christa L. Martin, Judith Allanson, Daniela T. Pilz, Ann H. Olney, Osvaldo M. Mutchinick, Shinji Hirotsune, Anthony Wynshaw-Boris, William B. Dobyns, David H. Ledbetter

Am J Hum Genet. 2003 Apr; 72(4): 918–930. Published online 2003 Mar 5. doi: 10.1086/374320

PMCID:: PMC1180354

Article PDF–959K

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