PMC Articles for MedGen (Select 502456) - PMC

Select item 106900251.

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy

Mackenzie A Michell-Robinson, Kristin E N Watt, Vladimir Grouza, Julia Macintosh, Maxime Pinard, Marius Tuznik, Xiaoru Chen, Lama Darbelli, Chia-Lun Wu, Stefanie Perrier, Daryan Chitsaz, Nonthué A Uccelli, Hanwen Liu, Timothy C Cox, Christoph W Müller, Timothy E Kennedy, Benoit Coulombe, David A Rudko, Paul A Trainor, Geneviève Bernard

Brain. 2023 Dec; 146(12): 5070–5085. Published online 2023 Aug 28. doi: 10.1093/brain/awad249

PMCID:: PMC10690025

Article PDF–1.4M

Select item 79401742.

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

Korbinian M Riedhammer, Sylvia Stockler, Rafal Ploski, Maren Wenzel, Burkhard Adis-Dutschmann, Uwe Ahting, Bader Alhaddad, Astrid Blaschek, Tobias B Haack, Robert Kopajtich, Jessica Lee, Victor Murcia Pienkowski, Agnieszka Pollak, Krystyna Szymanska, Maja Tarailo-Graovac, Robin van der Lee, Clara D van Karnebeek, Thomas Meitinger, Ingeborg Krägeloh-Mann, Katharina Vill

Brain. 2021 Feb; 144(2): 411–419. Published online 2020 Dec 12. doi: 10.1093/brain/awaa410

Correction in:: Brain. 2021 May; 144(5): e48.

PMCID:: PMC7940174

Article PDF–837K

Select item 62883183.

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

Jennifer A. Wambach, Daniel J. Wegner, Nivedita Patni, Martin Kircher, Marcia C. Willing, Dustin Baldridge, Chao Xing, Anil K. Agarwal, Samantha A. Schrier Vergano, Chirag Patel, Dorothy K. Grange, Amy Kenney, Tasnim Najaf, Deborah A. Nickerson, Michael J. Bamshad, F. Sessions Cole, Abhimanyu Garg

Am J Hum Genet. 2018 Dec 6; 103(6): 968–975. Published online 2018 Nov 7. doi: 10.1016/j.ajhg.2018.10.010

PMCID:: PMC6288318

Article PDF–1.0M

Select item 58836414.

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

Vishal V. Tewari, Ritu Mehta, C. M. Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra

BMC Pediatr. 2018; 18: 126. Published online 2018 Apr 4. doi: 10.1186/s12887-018-1108-9

PMCID:: PMC5883641

Article PDF–1.4M

Select item 45578385.

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description

Roberta Battini, Silvano Bertelloni, Guja Astrea, Manuela Casarano, Lorena Travaglini, Giampiero Baroncelli, Rosa Pasquariello, Enrico Bertini, Giovanni Cioni

BMC Med Genet. 2015; 16: 53. Published online 2015 Jul 25. doi: 10.1186/s12881-015-0203-0

PMCID:: PMC4557838

Article PDF–2.4M

Select item 38121066.

Teaching NeuroImages: Hypomyelinating leukodystrophy with hypodontia due to POLR3B: Look into a leukodystrophy's mouth

Matthis Synofzik, Geneviève Bernard, Tobias Lindig, Janina Gburek-Augustat

Neurology. 2013 Nov 5; 81(19): e145. doi: 10.1212/01.wnl.0000435300.64776.7e

PMCID:: PMC3812106

Article PDF–196K

Select item 37975287.

More Than Hypomyelination in Pol-III Disorder

Adeline Vanderver, Davide Tonduti, Genevieve Bernard, Jinping Lai, Christopher Rossi, Giovanni Carosso, Martha Quezado, Kondi Wong, Raphael Schiffmann

J Neuropathol Exp Neurol. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: J Neuropathol Exp Neurol. 2013 Jan; 72(1): 67–75. doi: 10.1097/NEN.0b013e31827c99d2

PMCID:: PMC3797528

Article PDF–4.3M

Select item 32134038.

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

Martine Tétreault, Karine Choquet, Simona Orcesi, Davide Tonduti, Umberto Balottin, Martin Teichmann, Sébastien Fribourg, Raphael Schiffmann, Bernard Brais, Adeline Vanderver, Geneviève Bernard

Am J Hum Genet. 2011 Nov 11; 89(5): 652–655. doi: 10.1016/j.ajhg.2011.10.006

PMCID:: PMC3213403

Article PDF–526K

Select item 31698299.

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Geneviève Bernard, Eliane Chouery, Maria Lisa Putorti, Martine Tétreault, Asako Takanohashi, Giovanni Carosso, Isabelle Clément, Odile Boespflug-Tanguy, Diana Rodriguez, Valérie Delague, Joelle Abou Ghoch, Nadine Jalkh, Imen Dorboz, Sebastien Fribourg, Martin Teichmann, André Megarbane, Raphael Schiffmann, Adeline Vanderver, Bernard Brais

Am J Hum Genet. 2011 Sep 9; 89(3): 415–423. doi: 10.1016/j.ajhg.2011.07.014

Correction in:: Am J Hum Genet. 2012 Nov 2; 91(5): 972.

PMCID:: PMC3169829

Article PDF–671K

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