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Items: 1 to 20 of 22

1.
RARS1‐related developmental and epileptic encephalopathy
Lin Wan, Dan Yu, Zhichao Li, Xinting Liu, Yan Liang, Huimin Yan, Gang Zhu, Bo Zhang, Guang Yang
Epilepsia Open. 2023 Sep; 8(3): 867–876. Published online 2023 May 5. doi: 10.1002/epi4.12751
PMCID:
PMC10472388
AbstractArticlePDF–4.2M
2.
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients
Chujun Wu, Mengwen Wang, Xingao Wang, Wei Li, Shaowu Li, Bin Chen, Songtao Niu, Hongfei Tai, Hua Pan, Zaiqiang Zhang
Brain. 2023 Jun; 146(6): 2364–2376. Published online 2022 Nov 16. doi: 10.1093/brain/awac426
PMCID:
PMC10232248
AbstractArticlePDF–897K
3.
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
Huifang Yan, Haoran Ji, Thomas Kubisiak, Ye Wu, Jiangxi Xiao, Qiang Gu, Yanling Yang, Han Xie, Taoyun Ji, Kai Gao, Dongxiao Li, Hui Xiong, Zhen Shi, Ming Li, Yuehua Zhang, Ruoyu Duan, Xinhua Bao, Yuwu Jiang, Margit Burmeister, Jingmin Wang
J Hum Genet. 2021; 66(8): 761–768. Published online 2021 Feb 18. doi: 10.1038/s10038-020-00896-5
PMCID:
PMC8310791
AbstractArticlePDF–1.1M
4.
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Luan T Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M L van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L Bonkowsky, Coriene Catsman-Berrevoets, Pedro S Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak-Bialek, Ingeborg Krägeloh-Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atik, Brenda Banwell, William S Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klara Brozova, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice Fletcher, Maria Eugenia Garcia Garcia, Paolo Gasparini, Janina Gburek-Augustat, Dolores Gonzalez Moron, Aline Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M Hobson, A Micheil Innes, Marcelo Kauffman, Susan M Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, William McClintock, Meriel McEntagart, Fiona McKenzie, Serge Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando I Monton, Sebastien Moutton, Raymond P J Murphy, Miriam Nickel, Hüseyin Onay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Helio Pedro, Sandra Pekic, Mercedes Pineda Marfa, Amy Pizzino, Barbara Plecko, Bwee Tien Poll-The, Vera Popovic, Dietz Rating, Marie-France Rioux, Norberto Rodriguez Espinosa, Anne Ronan, John R Ostergaard, Elsa Rossignol, Rocio Sanchez-Carpintero, Anna Schossig, Nesrin Senbil, Laura K Sønderberg Roos, Cathy A Stevens, Matthis Synofzik, László Sztriha, Daniel Tibussek, Dagmar Timmann, Davide Tonduti, Bart P van de Warrenburg, Maria Vázquez-López, Sunita Venkateswaran, Pontus Wasling, Evangeline Wassmer, Richard I Webster, Gert Wiegand, Grace Yoon, Joost Rotteveel, Raphael Schiffmann, Marjo S van der Knaap, Adeline Vanderver, Gabriel Á Martos-Moreno, Constantin Polychronakos, Nicole I Wolf, Geneviève Bernard
J Clin Endocrinol Metab. 2021 Feb; 106(2): e660–e674. Published online 2020 Oct 1. doi: 10.1210/clinem/dgaa700
PMCID:
PMC7823228
AbstractArticle
5.
A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy
Cagla Cömert, Lauren Brick, Debbie Ang, Johan Palmfeldt, Brandon F. Meaney, Mariya Kozenko, Costa Georgopoulos, Paula Fernandez-Guerra, Peter Bross
Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a004879. doi: 10.1101/mcs.a004879
PMCID:
PMC7304351
AbstractArticlePDF–4.2M
6.
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Devesh C. Pant, Imen Dorboz, Agatha Schluter, Stéphane Fourcade, Nathalie Launay, Javier Joya, Sergio Aguilera-Albesa, Maria Eugenia Yoldi, Carlos Casasnovas, Mary J. Willis, Montserrat Ruiz, Dorothée Ville, Gaetan Lesca, Karine Siquier-Pernet, Isabelle Desguerre, Huifang Yan, Jingmin Wang, Margit Burmeister, Lauren Brady, Mark Tarnopolsky, Carles Cornet, Davide Rubbini, Javier Terriente, Kiely N. James, Damir Musaev, Maha S. Zaki, Marc C. Patterson, Brendan C. Lanpher, Eric W. Klee, Filippo Pinto e Vairo, Elizabeth Wohler, Nara Lygia de M. Sobreira, Julie S. Cohen, Reza Maroofian, Hamid Galehdari, Neda Mazaheri, Gholamreza Shariati, Laurence Colleaux, Diana Rodriguez, Joseph G. Gleeson, Cristina Pujades, Ali Fatemi, Odile Boespflug-Tanguy, Aurora Pujol
J Clin Invest. 2019 Mar 1; 129(3): 1240–1256. Published online 2019 Feb 11. doi: 10.1172/JCI123959
PMCID:
PMC6391109
AbstractArticlePDF–6.7M
7.
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
8.
Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy
Daniella Magen, Costa Georgopoulos, Peter Bross, Debbie Ang, Yardena Segev, Dorit Goldsher, Alexandra Nemirovski, Eli Shahar, Sarit Ravid, Anthony Luder, Bayan Heno, Ruth Gershoni-Baruch, Karl Skorecki, Hanna Mandel
Am J Hum Genet. 2008 Jul 11; 83(1): 30–42. Published online 2008 Jul 3. doi: 10.1016/j.ajhg.2008.05.016
PMCID:
PMC2443844
AbstractArticlePDF–624K
9.
Major antigen of liver kidney microsomal autoantibodies in idiopathic autoimmune hepatitis is cytochrome P450db1.
M P Manns, E F Johnson, K J Griffin, E M Tan, K F Sullivan
J Clin Invest. 1989 Mar; 83(3): 1066–1072. doi: 10.1172/JCI113949
PMCID:
PMC303785
SummaryPage BrowsePDF–1.9M
10.
A Rare Case of Hypomyelinating Leukodystrophy and Its Management: A Case Report and Literature Review
Sonali Singh, Anshika Mishra, Chinmayee Murthy, Pugazhendi Inban, Munira Abdefatah Ali, Anupam S Yadav, Tarsha A Intsiful, Zainab T O. Omar, Sakshi Lakhra, Dr.Aadil Khan
Cureus. 2023 Mar; 15(3): e36471. Published online 2023 Mar 21. doi: 10.7759/cureus.36471
PMCID:
PMC10117409
AbstractArticlePDF–172K
11.
The Infantile Leukoencephalopathy-Associated Mutation of C11ORF73/HIKESHI Proteins Generates De Novo Interactive Activity with Filamin A, Inhibiting Oligodendroglial Cell Morphological Differentiation
Kohei Hattori, Kenji Tago, Shiori Memezawa, Arisa Ochiai, Sui Sawaguchi, Yukino Kato, Takanari Sato, Kazuma Tomizuka, Hiroaki Ooizumi, Katsuya Ohbuchi, Kazushige Mizoguchi, Yuki Miyamoto, Junji Yamauchi
Medicines (Basel) 2021 Feb; 8(2): 9. Published online 2021 Feb 1. doi: 10.3390/medicines8020009
PMCID:
PMC7912763
AbstractArticlePDF–9.6M
12.
EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease
Daniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao
Neurol Genet. 2021 Feb; 7(1): e539. Published online 2020 Dec 17. doi: 10.1212/NXG.0000000000000539
PMCID:
PMC7862097
AbstractArticlePDF–958K
13.
Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties
Yuki Miyamoto, Tomohiro Torii, Kazuko Kawahara, Nanami Hasegawa, Akito Tanoue, Yoichi Seki, Takako Morimoto, Megumi Funakoshi-Tago, Hiroomi Tamura, Keiichi Homma, Masahiro Yamamoto, Junji Yamauchi
Data Brief. 2017 Apr; 11: 284–289. Published online 2017 Feb 16. doi: 10.1016/j.dib.2017.02.024
PMCID:
PMC5328720
AbstractArticlePDF–3.0M
14.
Data supporting mitochondrial morphological changes by SPG13-associated HSPD1 mutants
Yuki Miyamoto, Funakoshi-Tago Megumi, Nanami Hasegawa, Takahiro Eguchi, Akito Tanoue, Hiroomi Tamura, Junji Yamauchi
Data Brief. 2016 Mar; 6: 482–488. Published online 2016 Jan 4. doi: 10.1016/j.dib.2015.12.038
PMCID:
PMC4716458
AbstractArticlePDF–5.6M
15.
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity
Laura Planas-Serra, Nathalie Launay, Leire Goicoechea, Bénédicte Heron, Cristina Jou, Natalia Juliá-Palacios, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Carolina De La Torre, Antoinette Gelot, Maria Marsal, Pablo Loza-Alvarez, Àngels García-Cazorla, Ali Fatemi, Isidre Ferrer, Manel Portero-Otin, Estela Area-Gómez, Aurora Pujol
J Clin Invest. 2023 May 15; 133(10): e162957. Published online 2023 May 15. doi: 10.1172/JCI162957
PMCID:
PMC10178845
AbstractArticlePDF–8.5M
16.
Oligodendrocyte differentiation alters tRNA modifications and codon optimality-mediated mRNA decay
Sophie Martin, Kevin C. Allan, Otis Pinkard, Thomas Sweet, Paul J. Tesar, Jeff Coller
Nat Commun. 2022; 13: 5003. Published online 2022 Aug 25. doi: 10.1038/s41467-022-32766-3
PMCID:
PMC9411196
AbstractArticlePDF–2.7M
17.
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy
Guy Helman, Ayelet Zerem, Akshata Almad, Julia L. Hacker, Sarah Woidill, Sunetra Sase, Alexandra N. LeFevre, Josef Ekstein, Martin M. Johansson, Chloe A. Stutterd, Ryan J. Taft, Cas Simons, Judith B. Grinspan, Amy Pizzino, Johanna L. Schmidt, Brian Harding, Yoel Hirsch, Angela N. Viaene, Aviva Fattal-Valevski, Adeline Vanderver
Pediatr Neurol. Author manuscript; available in PMC 2022 Aug 1.
Published in final edited form as: Pediatr Neurol. 2021 Aug; 121: 11–19. Published online 2021 May 14. doi: 10.1016/j.pediatrneurol.2021.04.014
PMCID:
PMC8327280
AbstractArticlePDF–1.3M
18.
GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination
L. Saint-Val, T. Courtin, P. Charles, C. Verny, M. Catala, R. Schiffmann, O. Boespflug-Tanguy, F. Mochel
AJNR Am J Neuroradiol. 2019 May; 40(5): 788–791. doi: 10.3174/ajnr.A6036
PMCID:
PMC7053899
AbstractArticlePDF–759K
19.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Synofzik, Burcu Atasu, Shawna Feely, Marina Kennerson, Claudia Stendel, Tobias Lindig, Michael A Gonzalez, Rüdiger Stirnberg, Marc Sturm, Sandra Roeske, Johanna Jung, Peter Bauer, Ebba Lohmann, Stefan Herms, Stefanie Heilmann-Heimbach, Garth Nicholson, Muhammad Mahanjah, Rajech Sharkia, Paolo Carloni, Oliver Brüstle, Thomas Klopstock, Katherine D Mathews, Michael E Shy, Peter de Jonghe, Patrick F Chinnery, Rita Horvath, Jürgen Kohlhase, Ina Schmitt, Michael Wolf, Susanne Greschus, Katrin Amunts, Wolfgang Maier, Ludger Schöls, Peter Nürnberg, Stephan Zuchner, Thomas Klockgether, Alfredo Ramirez, Rebecca Schüle
Brain. 2017 Jun; 140(6): 1561–1578. Published online 2017 Apr 27. doi: 10.1093/brain/awx095
Correction in:
Brain. 2018 Mar; 141(3): e21.
PMCID:
PMC6402316
AbstractArticlePDF–1.1M
20.
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

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