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Items: 1 to 20 of 54

1.
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
AbstractArticlePDF–652K
2.
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases
F Mochel, U F.H. Engelke, J Barritault, B Yang, N H. McNeill, J N. Thompson, A Vanderver, N I. Wolf, M A. Willemsen, F W. Verheijen, F Seguin, R A. Wevers, R Schiffmann
Neurology. 2010 Jan 26; 74(4): 302–305. doi: 10.1212/WNL.0b013e3181cbcdc4
PMCID:
PMC3122303
AbstractArticlePDF–434K
3.
Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31
Geneviève Bernard, Isabelle Thiffault, Martine Tetreault, Maria Lisa Putorti, Isabelle Bouchard, Michel Sylvain, Serge Melançon, Rachel Laframboise, Pierre Langevin, Jean-Pierre Bouchard, Michel Vanasse, Adeline Vanderver, Guillaume Sébire, Bernard Brais
Neurogenetics. Author manuscript; available in PMC 2014 Aug 28.
Published in final edited form as: Neurogenetics. 2010 Oct; 11(4): 457–464. Published online 2010 Jul 17. doi: 10.1007/s10048-010-0251-8
PMCID:
PMC4147760
AbstractArticlePDF–276K
4.
PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive
Maha S. Zaki, Gifty Bhat, Tipu Sultan, Mahmoud Issa, Hea-Jin Jung, Esra Dikoglu, Laila Selim, Imam Gamal, Mohamed S. Abdel-Hamid, Ghada Abdel-Salam, Isaac Marin-Valencia, Joseph G. Gleeson
Ann Neurol. Author manuscript; available in PMC 2017 Jul 1.
Published in final edited form as: Ann Neurol. 2016 Jul; 80(1): 59–70. Published online 2016 Jun 1. doi: 10.1002/ana.24678
PMCID:
PMC4938747
AbstractArticlePDF–1.0M
5.
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
Noriko Miyake, Nicole I. Wolf, Ferdy K. Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J. Bent, Karen W. Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R. Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J. Sinke, Deborah Sival, Irene Stolte-Dijkstra, Andrea Superti-Furga, Nicole Ulrick, Ryan J. Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A. Neubauer, Cas Simons, Adeline Vanderver
Neurogenetics. 2017; 18(4): 185–194. Published online 2017 Aug 26. doi: 10.1007/s10048-017-0520-x
PMCID:
PMC5705759
AbstractArticlePDF–4.2M
6.
Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model
Elena Georgiou, Kyriaki Sidiropoulou, Jan Richter, Christos Papaneophytou, Irene Sargiannidou, Alexia Kagiava, Georg von Jonquieres, Christina Christodoulou, Matthias Klugmann, Kleopas A. Kleopa
Brain. 2017 Mar; 140(3): 599–616. Published online 2017 Jan 18. doi: 10.1093/brain/aww351
PMCID:
PMC5837386
AbstractArticlePDF–2.4M
7.
Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification
Brian C. Kavanaugh, Emily B. Warren, Ozan Baytas, Michael Schmidt, Derek Merck, Karen Buch, Judy S. Liu, Chanika Phornphutkul, Paul Caruso, Eric M. Morrow
Am J Med Genet A. Author manuscript; available in PMC 2020 Nov 1.
Published in final edited form as: Am J Med Genet A. 2019 Nov; 179(11): 2284–2291. Published online 2019 Aug 12. doi: 10.1002/ajmg.a.61322
PMCID:
PMC6788951
AbstractArticlePDF–561K
8.
RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum
Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah von Spiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van der Knaap, Nicole I. Wolf
Ann Clin Transl Neurol. 2020 Jan; 7(1): 83–93. Published online 2019 Dec 8. doi: 10.1002/acn3.50960
PMCID:
PMC6952319
AbstractArticlePDF–1.2M
9.
Acquisition of Developmental Milestones in Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy
Francesco Gavazzi, Brittany A. Charsar, Catherine Williams, Justine Shults, Cesar A. Alves, Laura Adang, Adeline Vanderver
J Child Neurol. Author manuscript; available in PMC 2022 Apr 12.
Published in final edited form as: J Child Neurol. 2021 Sep; 36(10): 805–811. doi: 10.1177/08830738211000977
PMCID:
PMC8505576
AbstractArticlePDF–1.2M
10.
Dystonia in RNA Polymerase III‐Related Leukodystrophy
Ghalia Al Yazidi, Luan T. Tran, Kether Guerrero, Adeline Vanderver, Raphael Schiffmann, Nicole I. Wolf, Sylvain Chouinard, Geneviève Bernard
Mov Disord Clin Pract. 2019 Feb; 6(2): 155–159. Published online 2019 Jan 9. doi: 10.1002/mdc3.12715
PMCID:
PMC6384176
AbstractArticlePDF–3.1M
11.
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants
Laurence Gauquelin, Ferdy K. Cayami, László Sztriha, Grace Yoon, Luan T. Tran, Kether Guerrero, François Hocke, Rosalina M.L. van Spaendonk, Eva L. Fung, Stefano D'Arrigo, Gessica Vasco, Isabelle Thiffault, Dmitriy M. Niyazov, Richard Person, Kara Stuart Lewis, Evangeline Wassmer, Trine Prescott, Penny Fallon, Meriel McEntagart, Julia Rankin, Richard Webster, Heike Philippi, Bart van de Warrenburg, Dagmar Timmann, Abhijit Dixit, Claire Searle, DDD Study,, Nivedita Thakur, Michael C. Kruer, Suvasini Sharma, Adeline Vanderver, Davide Tonduti, Marjo S. van der Knaap, Enrico Bertini, Cyril Goizet, Sébastien Fribourg, Nicole I. Wolf, Geneviève Bernard
Neurol Genet. 2019 Dec; 5(6): e369. Published online 2019 Oct 30. doi: 10.1212/NXG.0000000000000369
PMCID:
PMC6927361
AbstractArticlePDF–651K
12.
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
I. Harting, S. Karch, U. Moog, A. Seitz, P.J.W. Pouwels, N.I. Wolf
AJNR Am J Neuroradiol. 2019 May; 40(5): 903–907. doi: 10.3174/ajnr.A6051
PMCID:
PMC7053886
AbstractArticlePDF–757K
13.
PP1C and PP2A are p70S6K Phosphatases Whose Inhibition Ameliorates HLD12-Associated Inhibition of Oligodendroglial Cell Morphological Differentiation
Naoto Matsumoto, Yuki Miyamoto, Kohei Hattori, Akihiro Ito, Hironori Harada, Hiroaki Oizumi, Katsuya Ohbuchi, Kazushige Mizoguchi, Junji Yamauchi
Biomedicines. 2020 Apr; 8(4): 89. Published online 2020 Apr 16. doi: 10.3390/biomedicines8040089
PMCID:
PMC7235839
AbstractArticlePDF–3.9M
14.
Expanded spectrum of Pelizaeus–Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form
Roberta Biancheri, Camillo Rosano, Laura Denegri, Eleonora Lamantea, Francesca Pinto, Federica Lanza, Mariasavina Severino, Mirella Filocamo
Eur J Hum Genet. 2013 Jan; 21(1): 34–39. Published online 2012 Jun 6. doi: 10.1038/ejhg.2012.93
PMCID:
PMC3533259
AbstractArticlePDF–1.0M
15.
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder
Jamal Ghoumid, Florence Petit, Odile Boute-Benejean, Frédéric Frenois, Maryse Cartigny, Clémence Vanlerberghe, Thomas Smol, Roseline Caumes, Nicolas de ROUX, Sylvie Manouvrier-Hanu
Eur J Hum Genet. 2017 Aug; 25(8): 1011–1014. Published online 2017 Jun 7. doi: 10.1038/ejhg.2017.73
PMCID:
PMC5567146
AbstractArticlePDF–902K
16.
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
Viorica Chelban, Nisha Patel, Jana Vandrovcova, M. Natalia Zanetti, David S. Lynch, Mina Ryten, Juan A. Botía, Oscar Bello, Eloise Tribollet, Stephanie Efthymiou, Indran Davagnanam, SYNAPSE Study Group, Fahad A. Bashiri, Nicholas W. Wood, James E. Rothman, Fowzan S. Alkuraya, Henry Houlden
Am J Hum Genet. 2017 Jun 1; 100(6): 969–977. Published online 2017 Jun 1. doi: 10.1016/j.ajhg.2017.05.009
PMCID:
PMC5473715
AbstractArticlePDF–1.9M
17.
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement
Konstanze Hörtnagel, Inge Krägeloh-Mann, Antje Bornemann, Miriam Döcker, Saskia Biskup, Heidi Mayrhofer, Florian Battke, Gabriele du Bois, Klaus Harzer
J Inherit Metab Dis. 2016; 39(6): 849–857. Published online 2016 Jul 29. doi: 10.1007/s10545-016-9961-x
PMCID:
PMC5065605
AbstractArticlePDF–2.3M
18.
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
AbstractArticlePDF–1.4M
19.
RNA Polymerase III Output Is Functionally Linked to tRNA Dimethyl-G26 Modification
Aneeshkumar G. Arimbasseri, Nathan H. Blewett, James R. Iben, Tek N. Lamichhane, Vera Cherkasova, Markus Hafner, Richard J. Maraia
PLoS Genet. 2015 Dec; 11(12): e1005671. Published online 2015 Dec 31. doi: 10.1371/journal.pgen.1005671
PMCID:
PMC4697793
AbstractArticlePDF–3.4M
20.
BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies
Guntram Borck, Friederike Hög, Maria Lisa Dentici, Perciliz L. Tan, Nadine Sowada, Ana Medeira, Lucie Gueneau, Holger Thiele, Maria Kousi, Francesca Lepri, Larissa Wenzeck, Ian Blumenthal, Antonio Radicioni, Tito Livio Schwarzenberg, Barbara Mandriani, Rita Fischetto, Deborah J. Morris-Rosendahl, Janine Altmüller, Alexandre Reymond, Peter Nürnberg, Giuseppe Merla, Bruno Dallapiccola, Nicholas Katsanis, Patrick Cramer, Christian Kubisch
Genome Res. 2015 Feb; 25(2): 155–166. doi: 10.1101/gr.176925.114
Correction in:
Genome Res. 2015 Apr; 25(4): 609.
PMCID:
PMC4315290
AbstractArticlePDF–1.1M

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