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Items: 1 to 20 of 81

1.
Amino acid synthesis deficiencies
T. J. de Koning
J Inherit Metab Dis. 2017; 40(4): 609–620. Published online 2017 Jun 26. doi: 10.1007/s10545-017-0063-1
PMCID:
PMC5500668
AbstractArticlePDF–475K
2.
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
3.
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
Isabelle Thiffault, Nicole I. Wolf, Diane Forget, Kether Guerrero, Luan T. Tran, Karine Choquet, Mathieu Lavallée-Adam, Christian Poitras, Bernard Brais, Grace Yoon, Laszlo Sztriha, Richard I. Webster, Dagmar Timmann, Bart P. van de Warrenburg, Jürgen Seeger, Alíz Zimmermann, Adrienn Máté, Cyril Goizet, Eva Fung, Marjo S. van der Knaap, Sébastien Fribourg, Adeline Vanderver, Cas Simons, Ryan J. Taft, John R. Yates III, Benoit Coulombe, Geneviève Bernard
Nat Commun. 2015; 6: 7623. Published online 2015 Jul 7. doi: 10.1038/ncomms8623
PMCID:
PMC4506509
AbstractArticlePDF–2.3M
4.
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
AbstractArticlePDF–2.4M
5.
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination
Tojo Nakayama, Almundher Al-Maawali, Malak El-Quessny, Anna Rajab, Samir Khalil, Joan M. Stoler, Wen-Hann Tan, Ramzi Nasir, Klaus Schmitz-Abe, R. Sean Hill, Jennifer N. Partlow, Muna Al-Saffar, Sarah Servattalab, Christopher M. LaCoursiere, Dimira E. Tambunan, Michael E. Coulter, Princess C. Elhosary, Grzegorz Gorski, A. James Barkovich, Kyriacos Markianos, Annapurna Poduri, Ganeshwaran H. Mochida
Am J Hum Genet. 2015 May 7; 96(5): 709–719. doi: 10.1016/j.ajhg.2015.03.003
PMCID:
PMC4570282
AbstractArticlePDF–1.5M
6.
Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony
Alexandre T. Vessoni, Roberto H. Herai, Jerome V. Karpiak, Angelica M. S. Leal, Cleber A. Trujillo, Annabel Quinet, Lucymara F. Agnez Lima, Carlos F. M. Menck, Alysson R. Muotri
Hum Mol Genet. 2016 Apr 1; 25(7): 1271–1280. Published online 2016 Jan 10. doi: 10.1093/hmg/ddw008
PMCID:
PMC4787902
AbstractArticlePDF–1.1M
7.
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
8.
Pharmacological treatment and BBB-targeted genetic therapy for MCT8-dependent hypomyelination in zebrafish
David Zada, Adi Tovin, Tali Lerer-Goldshtein, Lior Appelbaum
Dis Model Mech. 2016 Nov 1; 9(11): 1339–1348. doi: 10.1242/dmm.027227
PMCID:
PMC5117236
AbstractArticle
9.
Congenital infection with atypical porcine pestivirus (APPV) is associated with disease and viral persistence
Lukas Schwarz, Christiane Riedel, Sandra Högler, Leonie J. Sinn, Thomas Voglmayr, Bettina Wöchtl, Nora Dinhopl, Barbara Rebel-Bauder, Herbert Weissenböck, Andrea Ladinig, Till Rümenapf, Benjamin Lamp
Vet Res. 2017; 48: 1. Published online 2017 Jan 6. doi: 10.1186/s13567-016-0406-1
PMCID:
PMC5217315
AbstractArticlePDF–2.8M
10.
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB
Alan O'Brien, Christian R Marshall, Susan Blaser, Peter N Ray, Grace Yoon
Eur J Hum Genet. 2017 Jun; 25(6): 775–778. Published online 2017 Apr 5. doi: 10.1038/ejhg.2017.39
PMCID:
PMC5477367
AbstractArticlePDF–2.1M
11.
Mutations of the Thyroid Hormone Transporter MCT8 Cause Prenatal Brain Damage and Persistent Hypomyelination
Daniela López-Espíndola, Carmen Morales-Bastos, Carmen Grijota-Martínez, Xiao-Hui Liao, Dorit Lev, Ella Sugo, Charles F. Verge, Samuel Refetoff, Juan Bernal, Ana Guadaño-Ferraz
J Clin Endocrinol Metab. 2014 Dec; 99(12): E2799–E2804. Published online 2014 Sep 15. doi: 10.1210/jc.2014-2162
PMCID:
PMC4255116
AbstractArticle
12.
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
13.
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy
Tojo Nakayama, Jiang Wu, Patricia Galvin-Parton, Jody Weiss, Mary R. Andriola, R. Sean Hill, Dylan Vaughan, Malak El-Quessny, Brenda J. Barry, Jennifer N. Partlow, A. James Barkovich, Jiqiang Ling, Ganeshwaran H. Mochida
Hum Mutat. Author manuscript; available in PMC 2018 Oct 1.
Published in final edited form as: Hum Mutat. 2017 Oct; 38(10): 1348–1354. Published online 2017 Jun 23. doi: 10.1002/humu.23250
PMCID:
PMC5599341
AbstractArticlePDF–276K
14.
Overcoming Monocarboxylate Transporter 8 (MCT8)-Deficiency to Promote Human Oligodendrocyte Differentiation and Myelination
Jae Young Lee, Min Joung Kim, Devy Deliyanti, Michael F. Azari, Fernando Rossello, Adam Costin, Georg Ramm, Edouard G. Stanley, Andrew G. Elefanty, Jennifer L. Wilkinson-Berka, Steven Petratos
EBioMedicine. 2017 Nov; 25: 122–135. Published online 2017 Oct 19. doi: 10.1016/j.ebiom.2017.10.016
PMCID:
PMC5704066
AbstractArticlePDF–2.7M
15.
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
16.
Screening study of TUBB4A in isolated dystonia
Franca Vulinovic, Susen Schaake, Aloysius Domingo, Kishore Raj Kumar, Giovanni Defazio, Pablo Mir, Kristina Simonyan, Laurie J. Ozelius, Norbert Brüggemann, Sun Ju Chung, Aleksandar Rakovic, Katja Lohmann, Christine Klein
Parkinsonism Relat Disord. Author manuscript; available in PMC 2018 Aug 1.
Published in final edited form as: Parkinsonism Relat Disord. 2017 Aug; 41: 118–120. Published online 2017 Jun 10. doi: 10.1016/j.parkreldis.2017.06.001
PMCID:
PMC5769152
AbstractArticlePDF–296K
17.
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients
Haoran Ji, Dongxiao Li, Ye Wu, Quanli Zhang, Qiang Gu, Han Xie, Taoyun Ji, Huifang Wang, Lu Zhao, Haijuan Zhao, Yanling Yang, Hongchun Feng, Hui Xiong, Jinhua Ji, Zhixian Yang, Liping Kou, Ming Li, Xinhua Bao, Xingzhi Chang, Yuehua Zhang, Li Li, Huijuan Li, Zhengping Niu, Xiru Wu, Jiangxi Xiao, Yuwu Jiang, Jingmin Wang
PLoS One. 2018; 13(2): e0188869. Published online 2018 Feb 16. doi: 10.1371/journal.pone.0188869
PMCID:
PMC5815574
AbstractArticlePDF–9.3M
18.
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
AbstractArticlePDF–1.4M
19.
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D’Amico, Enrico Silvio Bertini, Francesco Nicita
Genes (Basel) 2024 Apr; 15(4): 508. Published online 2024 Apr 18. doi: 10.3390/genes15040508
PMCID:
PMC11050085
AbstractArticlePDF–734K
20.
Protective role of the lipid phosphatase Fig4 in the adult nervous system
Yevgeniya A Mironova, Jing-Ping Lin, Ashley L Kalinski, Lucas D Huffman, Guy M Lenk, Leif A Havton, Miriam H Meisler, Roman J Giger
Hum Mol Genet. 2018 Jul 15; 27(14): 2443–2453. Published online 2018 Apr 24. doi: 10.1093/hmg/ddy145
PMCID:
PMC6030899
AbstractArticlePDF–1.3M

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