PMC Links for Books (Select 4335844) - PMC

Select item 105061601.

Novel TUBB4A Mutations and Expansion of the Neuroimaging Phenotype of Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC)

Carlos Ferreira, Andrea Poretti, Julie Cohen, Ada Hamosh, Sakkubai Naidu

Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 18.

Published in final edited form as: Am J Med Genet A. 2014 Jul; 164A(7): 1802–1807. Published online 2014 Apr 4. doi: 10.1002/ajmg.a.36526

PMCID:: PMC10506160

Article PDF–976K

Select item 79767952.

New Syndrome Characterized by Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Marjo S. van der Knaap, SakkuBai Naidu, Petra J.W. Pouwels, Simona Bonavita, Rudy van Coster, Lieven Lagae, Jürgen Sperner, Robert Surtees, Raphael Schiffmann, Jakob Valk

AJNR Am J Neuroradiol. 2002 Oct; 23(9): 1466–1474.

PMCID:: PMC7976795

Article PDF–350K

Select item 43457903.

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

Eline M. Hamilton, Emiel Polder, Adeline Vanderver, Sakkubai Naidu, Raphael Schiffmann, Kate Fisher, Ana Boban Raguž, Luba Blumkin, H-ABC Research Group, Carola G. M. van Berkel, Quinten Waisfisz, Cas Simons, Ryan J. Taft, Truus E. M. Abbink, Nicole I. Wolf, Marjo S. van der Knaap

Brain. 2014 Jul; 137(7): 1921–1930. Published online 2014 Apr 30. doi: 10.1093/brain/awu110

PMCID:: PMC4345790

Article PDF–974K

Select item 41538524.

TUBB4A de novo mutations cause isolated hypomyelination

Amy Pizzino, Tyler Mark Pierson, Yiran Guo, Guy Helman, Sebastian Fortini, Kether Guerrero, Sulagna Saitta, Jennifer Louise Patrick Murphy, Quasar Padiath, Yi Xie, Hakon Hakonarson, Xun Xu, Tara Funari, Michelle Fox, Ryan J. Taft, Marjo S. van der Knaap, Geneviève Bernard, Raphael Schiffmann, Cas Simons, Adeline Vanderver

Neurology. 2014 Sep 2; 83(10): 898–902. doi: 10.1212/WNL.0000000000000754

PMCID:: PMC4153852

Article PDF–598K

Select item 40298645.

Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child with Static Hypomyelinating Leukodystrophy

Shawn M. Purnell, Steven B. Bleyl, Joshua L. Bonkowsky

Pediatr Neurol. Author manuscript; available in PMC 2015 Jun 1.

Published in final edited form as: Pediatr Neurol. 2014 Jun; 50(6): 608–611. Published online 2014 Feb 10. doi: 10.1016/j.pediatrneurol.2014.01.051

PMCID:: PMC4029864

Article PDF–219K

Select item 36986996.

Mutations in the Autoregulatory Domain of β-Tubulin 4a Cause Hereditary Dystonia

Joshua Hersheson, Niccolo E Mencacci, Mary Davis, Nicola MacDonald, Daniah Trabzuni, Mina Ryten, Alan Pittman, Reema Paudel, Eleanna Kara, Katherine Fawcett, Vincent Plagnol, Kailash P Bhatia, Alan J Medlar, Horia C Stanescu, John Hardy, Robert Kleta, Nicholas W Wood, Henry Houlden

Ann Neurol. 2013 Apr; 73(4): 546–553. Published online 2013 Feb 19. doi: 10.1002/ana.23832

PMCID:: PMC3698699

Article PDF–561K

Select item 36446257.

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Cas Simons, Nicole I. Wolf, Nathan McNeil, Ljubica Caldovic, Joseph M. Devaney, Asako Takanohashi, Joanna Crawford, Kelin Ru, Sean M. Grimmond, David Miller, Davide Tonduti, Johanna L. Schmidt, Robert S. Chudnow, Rudy van Coster, Lieven Lagae, Jill Kisler, Jürgen Sperner, Marjo S. van der Knaap, Raphael Schiffmann, Ryan J. Taft, Adeline Vanderver

Am J Hum Genet. 2013 May 2; 92(5): 767–773. doi: 10.1016/j.ajhg.2013.03.018

PMCID:: PMC3644625

Article PDF–572K

Select item 22763408.

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Nadege Bondurand, Florence Dastot-Le Moal, Laure Stanchina, Nathalie Collot, Viviane Baral, Sandrine Marlin, Tania Attie-Bitach, Irina Giurgea, Laurent Skopinski, William Reardon, Annick Toutain, Pierre Sarda, Anis Echaieb, Marilyn Lackmy-Port-Lis, Renaud Touraine, Jeanne Amiel, Michel Goossens, Veronique Pingault

Am J Hum Genet. 2007 Dec; 81(6): 1169–1185. Published online 2007 Oct 22. doi: 10.1086/522090

PMCID:: PMC2276340

Article PDF–666K

Select item 12160599.

Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

Birgit Uhlenberg, Markus Schuelke, Franz Rüschendorf, Nico Ruf, Angela M. Kaindl, Marco Henneke, Holger Thiele, Gisela Stoltenburg-Didinger, Fuat Aksu, Haluk Topaloğlu, Peter Nürnberg, Christoph Hübner, Bernhard Weschke, Jutta Gärtner

Am J Hum Genet. 2004 Aug; 75(2): 251–260. Published online 2004 Jun 10. doi: 10.1086/422763

Correction in:: Am J Hum Genet. 2004 Oct; 75(4): 737.

PMCID:: PMC1216059

Article PDF–652K

Select item 32003410.

Sequence of an expressed human beta-tubulin gene containing ten Alu family members.

M G Lee, C Loomis, N J Cowan

Nucleic Acids Res. 1984 Jul 25; 12(14): 5823–5836. doi: 10.1093/nar/12.14.5823

PMCID:: PMC320034

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