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Select item 111361401.

Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis

J. Y. Garbern

Cell Mol Life Sci. 2007 Jan; 64(1): 50–65. Published online 2006 Nov 20. doi: 10.1007/s00018-006-6182-8

PMCID:: PMC11136140

Abstract Article PDF–398K

Select item 104574772.

The natural history of Pelizaeus–Merzbacher disease caused by PLP1 duplication: A multiyear case series

Angela M. Trepanier, Sienna Aguilar, John Kamholz, Jeremy J. Laukka

Clin Case Rep. 2023 Sep; 11(9): e7814. Published online 2023 Aug 25. doi: 10.1002/ccr3.7814

PMCID:: PMC10457477

Abstract Article PDF–275K

Select item 104501003.

A Patient With Pelizaeus-Merzbacher Disease Caused by a c.67G>A Mutation in the PLP1 Gene

Mohammad Usman, Alexis Koch, Laurence Stolzenberg, Austin Huang, Veronica E Nkie, Mohammad Ibrahim

Cureus. 2023 Jul; 15(7): e42458. Published online 2023 Jul 25. doi: 10.7759/cureus.42458

PMCID:: PMC10450100

Abstract Article PDF–192K

Select item 99830774.

Pelizaeus-Merzbacher Disease in a 4-Year-Old Female Child: “A Rare Case Report”

Devesh Gagan, Sudesh Kumar, Piyali Bhattacharya, Simranjit Kaur

Glob Pediatr Health. 2023; 10: 2333794X231157979. Published online 2023 Mar 1. doi: 10.1177/2333794X231157979

PMCID:: PMC9983077

Abstract Article PDF–611K

Select item 98794955.

Pelizaeus-Merzbacher Disease with PLP1 Exon 1 Duplication, Previously Misdiagnosed as Cerebral Palsy: a Case Report

Su Ji Lee, Tae Yong Kim, Seungbeen Hong, Justin Byun, Sung-Rae Cho

Brain Neurorehabil. 2021 Jul; 14(2): e20. Published online 2021 Jun 8. doi: 10.12786/bn.2021.14.e20

PMCID:: PMC9879495

Abstract Article PDF–1.1M

Select item 96374286.

Epidural Anesthesia and Continuous Epidural Analgesia in a Pediatric Patient With Pelizaeus-Merzbacher Disease: A Case Report

Toyoaki Maruta, Yumi Watanabe, Yukiko Nagata, Rina Kashino, Isao Tsuneyoshi

Cureus. 2022 Oct; 14(10): e29983. Published online 2022 Oct 6. doi: 10.7759/cureus.29983

PMCID:: PMC9637428

Abstract Article PDF–221K

Select item 94066767.

Magnetic Resonance Imaging and Spectroscopy Analysis in a Pelizaeus–Merzbacher Disease Rat Model

Maho Ishikawa, Reika Sawaya, Miki Hirayama, Junpei Ueda, Shigeyoshi Saito

Diagnostics (Basel) 2022 Aug; 12(8): 1864. Published online 2022 Aug 2. doi: 10.3390/diagnostics12081864

PMCID:: PMC9406676

Abstract Article PDF–1.9M

Select item 93969448.

Altered high-energy phosphate and membrane metabolism in Pelizaeus–Merzbacher disease using phosphorus magnetic resonance spectroscopy

Jeremy J Laukka, Kevin M Kain, Anirudha S Rathnam, Jasloveleen Sohi, Dalal Khatib, John Kamholz, Jeffrey A Stanley

Brain Commun. 2022; 4(4): fcac202. Published online 2022 Aug 5. doi: 10.1093/braincomms/fcac202

PMCID:: PMC9396944

Abstract Article PDF–1.0M

Select item 92597029.

Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease

Marilena Elpidorou, James A. Poulter, Katarzyna Szymanska, Wia Baron, Katrin Junger, Karsten Boldt, Marius Ueffing, Lydia Green, John H. Livingston, Eammon G. Sheridan, Colin A. Johnson

Eur J Hum Genet. 2022 Jul; 30(7): 860–864. Published online 2022 Feb 25. doi: 10.1038/s41431-022-01050-9

PMCID:: PMC9259702

Abstract Article PDF–2.1M

Select item 896248910.

Genotype–phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus–merzbacher disease

Ruoyu Duan, Haoran Ji, Huifang Yan, Junyu Wang, Yu Zhang, Qian Zhang, Dongxiao Li, Binbin Cao, Qiang Gu, Ye Wu, Yuwu Jiang, Ming Li, Jingmin Wang

Orphanet J Rare Dis. 2022; 17: 137. Published online 2022 Mar 28. doi: 10.1186/s13023-022-02267-z

PMCID:: PMC8962489

Abstract Article PDF–1.5M

Select item 844224711.

A Novel Non-Human Primate Model of Pelizaeus-Merzbacher Disease

Larry S. Sherman, Weiping Su, Amanda L. Johnson, Samuel M. Peterson, Cassandra Cullin, Tiffany Lavinder, Betsy Ferguson, Anne D. Lewis

Neurobiol Dis. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Neurobiol Dis. 2021 Oct; 158: 105465. Published online 2021 Aug 5. doi: 10.1016/j.nbd.2021.105465

PMCID:: PMC8442247

Abstract Article PDF–2.9M

Select item 838382212.

Auditory testing profiles of Pelizaeus-Merzbacher disease

James M. Coticchia, M.A. Diane Roeder, Giancarlo F. Zuliani, Alexander Gow, James Y. Garbern

Int J Pediatr Otorhinolaryngol Extra. Author manuscript; available in PMC 2021 Aug 24.

Published in final edited form as: Int J Pediatr Otorhinolaryngol Extra. 2011 Jan; 6(1): 23–29. Published online 2010 Feb 6. doi: 10.1016/j.pedex.2010.01.001

PMCID:: PMC8383822

Abstract Article PDF–1.1M

Select item 836749013.

MR imaging of the brain in five members of a family with Pelizaeus-Merzbacher disease.

A M Silverstein, D K Hirsh, J D Trobe, S S Gebarski

AJNR Am J Neuroradiol. 1990 May; 11(3): 495-9.

PMCID:: PMC8367490

Summary PDF–2.6M

Select item 833841414.

Proton MR spectroscopy in Pelizaeus-Merzbacher disease.

J Takanashi, K Sugita, H Osaka, M Ishii, H Niimi

AJNR Am J Neuroradiol. 1997 Mar; 18(3): 533-5.

PMCID:: PMC8338414

Summary PDF–209K

Select item 833509615.

The reflection of histology in MR imaging of Pelizaeus-Merzbacher disease.

M S van der Knaap, J Valk

AJNR Am J Neuroradiol. 1989 Jan-Feb; 10(1): 99-103.

PMCID:: PMC8335096

Summary PDF–2.8M

Select item 828212416.

Oligodendrocyte Death in Pelizaeus-Merzbacher Disease Is Rescued by Iron Chelation

Hiroko Nobuta, Nan Yang, Yi Han Ng, Samuele G. Marro, Khalida Sabeur, Manideep Chavali, John H. Stockley, David W. Killilea, Patrick B. Walter, Chao Zhao, Philip Huie, Jr., Steven A. Goldman, Arnold R. Kriegstein, Robin J.M. Franklin, David H. Rowitch, Marius Wernig

Cell Stem Cell. Author manuscript; available in PMC 2021 Jul 15.

Published in final edited form as: Cell Stem Cell. 2019 Oct 3; 25(4): 531–541.e6. doi: 10.1016/j.stem.2019.09.003

PMCID:: PMC8282124

Abstract Article PDF–2.8M

Select item 816783617.

Neurogenetics of Pelizaeus-Merzbacher disease

Joana M. Osorio, Steven A. Goldman

Handb Clin Neurol. Author manuscript; available in PMC 2021 Jun 1.

Published in final edited form as: Handb Clin Neurol. 2018; 148: 701–722. doi: 10.1016/B978-0-444-64076-5.00045-4

PMCID:: PMC8167836

Abstract Article PDF–1.3M

Select item 802826718.

Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus‐Merzbacher disease

Montserrat Ruiz, Mélina Bégou, Nathalie Launay, Pablo Ranea‐Robles, Patrizia Bianchi, Jone López‐Erauskin, Laia Morató, Cristina Guilera, Bérengère Petit, Catherine Vaurs‐Barriere, Céline Guéret‐Gonthier, Marie‐Noëlle Bonnet‐Dupeyron, Stéphane Fourcade, Johan Auwerx, Odile Boespflug‐Tanguy, Aurora Pujol

Brain Pathol. 2018 Sep; 28(5): 611–630. Published online 2017 Dec 26. doi: 10.1111/bpa.12571

PMCID:: PMC8028267

Abstract Article PDF–1.1M

Select item 801691919.

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

Keiko Yamamoto-Shimojima, Hiroyuki Akagawa, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Toshiyuki Yamamoto

Hum Genome Var. 2021; 8: 14. Published online 2021 Apr 1. doi: 10.1038/s41439-021-00144-y

PMCID:: PMC8016919

Abstract Article PDF–608K

Select item 797400220.

Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease

Francesca Pizzini, Ali. S. Fatemi, Peter B. Barker, Lidia M. Nagae-Poetscher, Alena Horská, Andrew W. Zimmerman, Hugo W. Moser, Genila Bibat, Sakkubai Naidu

AJNR Am J Neuroradiol. 2003 Sep; 24(8): 1683–1689.