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Select item 116957921.

Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities

Jaakko H. Oikarainen, Oula A. Knuutinen, Salla M. Kangas, Elisa J. Rahikkala, Tytti M.‐L. Pokka, Jukka S. Moilanen, Reetta M. Hinttala, Päivi M. Vieira, Johanna M. Uusimaa, Maria H. Suo‐Palosaari

Dev Med Child Neurol. 2025 Feb; 67(2): 186–194. Published online 2024 Jul 30. doi: 10.1111/dmcn.16036

PMCID:: PMC11695792

Abstract Article PDF–1.5M

Select item 115903882.

Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study

Laura Lentini, Helia Toutounchi, Alexandra Chapleau, Adam Le, Simon Fournier, Fatemeh Emari, Robert Flamini, Andrea Rossi, Angela Gentile, Enrico Bertini, Francesco Nicita, Daniela Pohl, Sunita Venkateswaran, Stephanie Keller, Elsa Rossignol, Deborah Renaud, Danilo De Assis Pereira, Xiaoru Chen, Adeline Vanderver, Geneviève Bernard

J Child Neurol. 2025 Jan; 40(1): 26–38. Published online 2024 Oct 21. doi: 10.1177/08830738241283171

PMCID:: PMC11590388

Abstract Article PDF–664K

Select item 114953973.

Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families

Ichraf Kraoua, Maha Jamoussi, Cyrine Drissi, Lilia Kraoua, Séverine Drunat, Hanene Benrhouma, Thouraya Ben Younes, Sonia Nagi, Sonia Abdelhak, Odile Boespflug Tanguy, Ilhem Ben Youssef‐Turki, Mediha Trabelsi, Imen Dorboz

Mol Genet Genomic Med. 2024 Oct; 12(10): e70007. Published online 2024 Oct 22. doi: 10.1002/mgg3.70007

PMCID:: PMC11495397

Abstract Article PDF–923K

Select item 114389084.

Dysregulated miR-124 mediates impaired social memory behavior caused by paternal early social isolation

Sijia Chen, Shixin Ding, Yingting Pang, Yuxi Jin, Peng Sun, Yue Li, Min Cao, Yimiao Wang, Ze Wang, Tianqi Wang, Ying Zou, Yanli Zhang, Ming Xiao

Transl Psychiatry. 2024; 14: 392. Published online 2024 Sep 28. doi: 10.1038/s41398-024-03109-1

PMCID:: PMC11438908

Abstract Article PDF–9.2M

Select item 114263405.

Myelin basic protein mRNA levels affect myelin sheath dimensions, architecture, plasticity, and density of resident glial cells

Hooman Bagheri, Hana Friedman, Amanda Hadwen, Celia Jarweh, Ellis Cooper, Lawrence Oprea, Claire Guerrier, Anmar Khadra, Armand Collin, Julien Cohen‐Adad, Amanda Young, Gerardo Mendez Victoriano, Matthew Swire, Andrew Jarjour, Marie E. Bechler, Rachel S. Pryce, Pierre Chaurand, Lise Cougnaud, Dajana Vuckovic, Elliott Wilion, Owen Greene, Akiko Nishiyama, Anouk Benmamar‐Badel, Trevor Owens, Vladimir Grouza, Marius Tuznik, Hanwen Liu, David A. Rudko, Jinyi Zhang, Katherine A. Siminovitch, Alan C. Peterson

Glia. 2024 Oct; 72(10): 1893–1914. Published online 2024 Jul 18. doi: 10.1002/glia.24589

PMCID:: PMC11426340

Abstract Article PDF–9.1M

Select item 113881776.

HSP60 chaperone deficiency disrupts the mitochondrial matrix proteome and dysregulates cholesterol synthesis

Cagla Cömert, Kasper Kjær-Sørensen, Jakob Hansen, Jasper Carlsen, Jesper Just, Brandon F. Meaney, Elsebet Østergaard, Yonglun Luo, Claus Oxvig, Lisbeth Schmidt-Laursen, Johan Palmfeldt, Paula Fernandez-Guerra, Peter Bross

Mol Metab. 2024 Oct; 88: 102009. Published online 2024 Aug 14. doi: 10.1016/j.molmet.2024.102009

PMCID:: PMC11388177

Abstract Article PDF–5.0M

Select item 113728207.

Atlas‐based assessment of hypomyelination: Quantitative MRI in Pelizaeus‐Merzbacher disease

Caroline Köhler, Paul Kuntke, Prativa Sahoo, Hannes Wahl, Sean C. L. Deoni, Jutta Gärtner, Steffi Dreha‐Kulaczewski, Hagen H. Kitzler

Hum Brain Mapp. 2024 Sep; 45(13): e70014. Published online 2024 Sep 4. doi: 10.1002/hbm.70014

PMCID:: PMC11372820

Abstract Article PDF–15M

Select item 113522808.

Hypomyelination Leukodystrophy 16 (HLD16)-Associated Mutation p.Asp252Asn of TMEM106B Blunts Cell Morphological Differentiation

Sui Sawaguchi, Miki Ishida, Yuki Miyamoto, Junji Yamauchi

Curr Issues Mol Biol. 2024 Aug; 46(8): 8088–8103. Published online 2024 Jul 27. doi: 10.3390/cimb46080478

PMCID:: PMC11352280

Abstract Article PDF–4.0M

Select item 113486799.

Identification of PMD subgroups using a myelination score for PMD

Inga Harting, Sven F. Garbade, Stefan D. Rosendaal, Alexander Mohr, Omar Sherbini, Adeline Vanderver, Nicole I. Wolf

Eur J Paediatr Neurol. Author manuscript; available in PMC 2024 Aug 27.

Published in final edited form as: Eur J Paediatr Neurol. 2022 Nov; 41: 71–79. Published online 2022 Nov 4. doi: 10.1016/j.ejpn.2022.10.003

PMCID:: PMC11348679

Abstract Article PDF–1.4M

Select item 1125448910.

Myelin lesion in the aspartoacylase (Aspa) knockout rat, an animal model for Canavan disease

Shuji Takeda, Rika Hoshiai, Miyuu Tanaka, Takeshi Izawa, Jyoji Yamate, Takashi Kuramoto, Mitsuru Kuwamura

Exp Anim. 2024; 73(3): 347–356. Published online 2024 Mar 28. doi: 10.1538/expanim.23-0089

PMCID:: PMC11254489

Abstract Article PDF–6.5M

Select item 1124286111.

Hypomyelinated vps16 Mutant Zebrafish Exhibit Systemic and Neurodevelopmental Pathologies

Shreya Banerjee, Shivani Bongu, Sydney P. Hughes, Emma K. Gaboury, Chelsea E. Carver, Xixia Luo, Denise A. Bessert, Ryan Thummel

Int J Mol Sci. 2024 Jul; 25(13): 7260. Published online 2024 Jul 1. doi: 10.3390/ijms25137260

PMCID:: PMC11242861

Abstract Article PDF–5.6M

Select item 1112076312.

A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?

Dimitra Siori, Dimitrios Vlachakis, Periklis Makrythanasis, Joanne Traeger-Synodinos, Danai Veltra, Afrodite Kampouraki, George P. Chrousos

Genes (Basel) 2024 May; 15(5): 525. Published online 2024 Apr 23. doi: 10.3390/genes15050525

PMCID:: PMC11120763

Abstract Article PDF–1.7M

Select item 1110922913.

Seipin deficiency-induced lipid dysregulation leads to hypomyelination-associated cognitive deficits via compromising oligodendrocyte precursor cell differentiation

Wenli Cui, Jing Yang, Chuanyun Tu, Ziting Zhang, Huifang Zhao, Yan Qiao, Yanqiu Li, Wulin Yang, Kah-Leong Lim, Quanhong Ma, Chengwu Zhang, Li Lu

Cell Death Dis. 2024 May; 15(5): 350. Published online 2024 May 21. doi: 10.1038/s41419-024-06737-z

PMCID:: PMC11109229

Abstract Article PDF–7.6M

Select item 1110624214.

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m⁶A site accessibility

Debjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, Arnab China, Krishnendu Khan, Fabio Cumbo, Dalia Halawani, Fulvia Terenzi, Isaac Zin, Briana Long, Gregory Costain, Susan Blaser, Amanda Carnevale, Valentin Gogonea, Ranjan Dutta, Daniel Blankenberg, Grace Yoon, Paul L. Fox

Nat Commun. 2024; 15: 4284. Published online 2024 May 20. doi: 10.1038/s41467-024-48549-x

PMCID:: PMC11106242

Abstract Article PDF–5.2M

Select item 1109976215.

Clinical and magnetic resonance imaging findings in a French bulldog puppy with genetically confirmed congenital hypothyroidism

Katia Sánchez González, Harry Warwick, Marius Conradie, Neringa Alisauskaite

J Vet Intern Med. 2024 May-Jun; 38(3): 1737–1743. Published online 2024 Mar 26. doi: 10.1111/jvim.17029

PMCID:: PMC11099762

Abstract Article PDF–1.1M

Select item 1109563516.

Dmd^mdx mice have defective oligodendrogenesis, delayed myelin compaction and persistent hypomyelination

Andrea J. Arreguin, Zijian Shao, Holly Colognato

Dis Model Mech. 2024 Apr 1; 17(4): dmm050115. Published online 2024 May 9. doi: 10.1242/dmm.050115

PMCID:: PMC11095635

Abstract Article

Select item 1106811017.

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha S Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily Farrow, Juan S Bonifacino

Brain. 2024 May; 147(5): 1751–1767. Published online 2023 Dec 21. doi: 10.1093/brain/awad427

PMCID:: PMC11068110

Abstract Article PDF–2.0M

Select item 1106810818.

PAK2 is necessary for myelination in the peripheral nervous system

Bo Hu, Daniel Moiseev, Isabella Schena, Bulat Faezov, Roland Dunbrack, Jonathan Chernoff, Jun Li

Brain. 2024 May; 147(5): 1809–1821. Published online 2023 Dec 11. doi: 10.1093/brain/awad413

PMCID:: PMC11068108

Abstract Article PDF–1.6M

Select item 1106123419.

Selenoprotein I is indispensable for ether lipid homeostasis and proper myelination

Lance G.A. Nunes, Chi Ma, FuKun W. Hoffmann, Ashley E. Shay, Matthew W. Pitts, Peter R. Hoffmann

J Biol Chem. 2024 May; 300(5): 107259. Published online 2024 Apr 4. doi: 10.1016/j.jbc.2024.107259

PMCID:: PMC11061234

Abstract Article PDF–4.3M

Select item 1105927320.

Transmembrane proteins with unknown function (TMEMs) as ion channels: electrophysiological properties, structure, and pathophysiological roles

Hyunji Kang, C. Justin Lee

Exp Mol Med. 2024 Apr; 56(4): 850–860. Published online 2024 Apr 1. doi: 10.1038/s12276-024-01206-1

PMCID:: PMC11059273

Abstract Article PDF–2.4M

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