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Items: 1 to 20 of 500

1.
An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis
Yi Dai, Yaling Ma, Shengde Li, Santasree Banerjee, Shengran Liang, Qing Liu, Yinchang Yang, Bin Peng, Liying Cui, Liri Jin
Front Mol Neurosci. 2017; 10: 215. Published online 2017 Jul 18. doi: 10.3389/fnmol.2017.00215
PMCID:
PMC5513940
AbstractArticlePDF–1.7M
2.
Lamin B1 Accumulation’s Effects on Autosomal Dominant Leukodystrophy (ADLD): Induction of Reactivity in the Astrocytes
Stefano Ratti, Isabella Rusciano, Sara Mongiorgi, Irene Neri, Alessandra Cappellini, Pietro Cortelli, Pann-Ghill Suh, James A. McCubrey, Lucia Manzoli, Lucio Cocco, Giulia Ramazzotti
Cells. 2021 Oct; 10(10): 2566. Published online 2021 Sep 28. doi: 10.3390/cells10102566
PMCID:
PMC8534128
AbstractArticlePDF–2.5M
3.
MR Characteristics and Neuropathology in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms
A. Melberg, L. Hallberg, H. Kalimo, R. Raininko
AJNR Am J Neuroradiol. 2006 Apr; 27(4): 904–911.
PMCID:
PMC8133955
AbstractArticlePDF–730K
4.
N‐CAM Dysfunction and Unexpected Accumulation of PSA‐NCAM in Brain of Adult‐Onset Autosomal‐Dominant Leukodystrophy
Marco Piccinini, Barbara Buccinnà, Giovanni De Marco, Elisa Lupino, Cristina Ramondetti, Silvia Grifoni, Barbara Votta, Maria Teresa Giordana, Maria Teresa Rinaudo
Brain Pathol. 2010 Mar; 20(2): 431–440. Published online 2009 Jun 25. doi: 10.1111/j.1750-3639.2009.00313.x
PMCID:
PMC8094802
AbstractArticlePDF–397K
5.
Cell signaling pathways in autosomal-dominant leukodystrophy (ADLD): the intriguing role of the astrocytes
Stefano Ratti, Isabella Rusciano, Sara Mongiorgi, Eric Owusu Obeng, Alessandra Cappellini, Gabriella Teti, Mirella Falconi, Lia Talozzi, Sabina Capellari, Anna Bartoletti-Stella, Pietro Guaraldi, Pietro Cortelli, Pann-Ghill Suh, Lucio Cocco, Lucia Manzoli, Giulia Ramazzotti
Cell Mol Life Sci. 2021 Mar; 78(6): 2781–2795. Published online 2020 Oct 9. doi: 10.1007/s00018-020-03661-1
PMCID:
PMC8004488
AbstractArticlePDF–1.9M
6.
MR Imaging Characteristics and Neuropathology of the Spinal Cord in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms
J. Sundblom, A. Melberg, H. Kalimo, A. Smits, R. Raininko
AJNR Am J Neuroradiol. 2009 Feb; 30(2): 328–335. doi: 10.3174/ajnr.A1354
PMCID:
PMC7051393
AbstractArticle
7.
LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature
Yanyan Zhang, Jie Li, Rong Bai, Jianping Wang, Tao Peng, Lijie Chen, Jingtao Wang, Yanru Liu, Tian Tian, Hong Lu
Front Neurosci. 2019; 13: 1030. Published online 2019 Oct 21. doi: 10.3389/fnins.2019.01030
PMCID:
PMC6816284
AbstractArticlePDF–4.5M
8.
A multiple sclerosis‐like disorder in patients with OPA1 mutations
Patrick Yu‐Wai‐Man, Achillefs Spyropoulos, Holly J. Duncan, Joseph V. Guadagno, Patrick F. Chinnery
Ann Clin Transl Neurol. 2016 Sep; 3(9): 723–729. Published online 2016 Jul 19. doi: 10.1002/acn3.323
PMCID:
PMC5018584
AbstractArticlePDF–407K
9.
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)
Elisa Giorgio, Daniel Robyr, Malte Spielmann, Enza Ferrero, Eleonora Di Gregorio, Daniele Imperiale, Giovanna Vaula, Georgios Stamoulis, Federico Santoni, Cristiana Atzori, Laura Gasparini, Denise Ferrera, Claudio Canale, Michel Guipponi, Len A. Pennacchio, Stylianos E. Antonarakis, Alessandro Brussino, Alfredo Brusco
Hum Mol Genet. 2015 Jun 1; 24(11): 3143–3154. Published online 2015 Feb 20. doi: 10.1093/hmg/ddv065
PMCID:
PMC4424952
AbstractArticlePDF–621K
10.
ADLD: A Novel Graphical Representation of Protein Sequences and Its Application
Lei Wang, Hui Peng, Jinhua Zheng
Comput Math Methods Med. 2014; 2014: 959753. Published online 2014 Oct 30. doi: 10.1155/2014/959753
PMCID:
PMC4230005
AbstractArticlePDF–956K
11.
CNV and nervous system diseases – what's new?
W. Gu, J.R. Lupski
Cytogenet Genome Res. 2009 Mar; 123(1-4): 54–64. doi: 10.1159/000184692
PMCID:
PMC2920183
AbstractArticlePDF–205K
12.
Dynamic Lamin B1-Gene Association During Oligodendrocyte Progenitor Differentiation
Camila Yattah, Marylens Hernandez, Dennis Huang, HyeJin Park, Will Liao, Patrizia Casaccia
Neurochem Res. Author manuscript; available in PMC 2020 Mar 8.
Published in final edited form as: Neurochem Res. 2020 Mar; 45(3): 606–619. Published online 2020 Feb 4. doi: 10.1007/s11064-019-02941-y
PMCID:
PMC7060805
AbstractArticlePDF–1.4M
13.
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease
Nicholas Borja, Stephanie Bivona, Lé Shon Peart, Brittany Johnson, Joanna Gonzalez, Deborah Barbouth, Henry Moore, Shengru Guo, Undiagnosed Disease Network , Guney Bademci, Mustafa Tekin
Mol Genet Genomic Med. 2022 Apr; 10(4): e1892. Published online 2022 Mar 5. doi: 10.1002/mgg3.1892
PMCID:
PMC9000935
AbstractArticlePDF–864K
14.
Lamin B1 fluctuations have differential effects on cellular proliferation and senescence
Oliver Dreesen, Alexandre Chojnowski, Peh Fern Ong, Tian Yun Zhao, John E. Common, Declan Lunny, E. Birgitte Lane, Shu Jin Lee, Leah A. Vardy, Colin L. Stewart, Alan Colman
J Cell Biol. 2013 Mar 4; 200(5): 605–617. doi: 10.1083/jcb.201206121
PMCID:
PMC3587829
AbstractArticlePDF–3.1M
15.
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression
Elisa Giorgio, Harshvardhan Rolyan, Laura Kropp, Anish Baswanth Chakka, Svetlana Yatsenko, Eleonora Di Gregorio, Daniela Lacerenza, Giovanna Vaula, Flavia Talarico, Paola Mandich, Camilo Toro, Eleonore Eymard Pierre, Pierre Labauge, Sabina Capellari, Pietro Cortelli, Filippo Pinto Vairo, Diego Miguel, Danielle Stubbolo, Lourenco Charles Marques, William Gahl, Odile Boespflug-Tanguy, Atle Melberg, Sharon Hassin-Baer, Oren S Cohen, Rastislav Pjontek, Armin Grau, Thomas Klopstock, Brent Fogel, Inge Meijer, Guy Rouleau, Jean-Pierre L Bouchard, Madhavi Ganapathiraju, Adeline Vanderver, Niklas Dahl, Grace Hobson, Alfredo Brusco, Alessandro Brussino, Quasar Saleem Padiath
Hum Mutat. 2013 Aug; 34(8): 1160–1171. Published online 2013 May 28. doi: 10.1002/humu.22348
PMCID:
PMC3714349
AbstractArticlePDF–1.2M
16.
Development and optimization of a high content analysis platform to identify suppressors of lamin B1 overexpression as a therapeutic strategy for Autosomal Dominant Leukodystrophy
Bruce Nmezi, Laura L. Vollmer, Tong Ying Shun, Albert Gough, Harshvardhan Rolyan, Fang Liu, Yumeng Jia, Quasar S. Padiath, Andreas Vogt
SLAS Discov. Author manuscript; available in PMC 2021 Sep 1.
Published in final edited form as: SLAS Discov. 2020 Sep; 25(8): 939–949. Published online 2020 Apr 30. doi: 10.1177/2472555220915821
PMCID:
PMC7755098
AbstractArticlePDF–865K
17.
Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts
Denise Ferrera, Claudio Canale, Roberto Marotta, Nadia Mazzaro, Marta Gritti, Michele Mazzanti, Sabina Capellari, Pietro Cortelli, Laura Gasparini
FASEB J. 2014 Sep; 28(9): 3906–3918. doi: 10.1096/fj.13-247635
PMCID:
PMC4139899
AbstractArticle
18.
Variability in the Precore and Core Promoter Regions of HBV Strains in Morocco: Characterization and Impact on Liver Disease Progression
Bouchra Kitab, Abdellah Essaid El Feydi, Rajaa Afifi, Christian Trepo, Mustapha Benazzouz, Wafaa Essamri, Fabien Zoulim, Isabelle Chemin, Hanane Salih Alj, Sayeh Ezzikouri, Soumaya Benjelloun
PLoS One. 2012; 7(8): e42891. Published online 2012 Aug 14. doi: 10.1371/journal.pone.0042891
PMCID:
PMC3419231
AbstractArticlePDF–364K
19.
Calcium-insensitive splice variants of mammalian E1 subunit of 2-oxoglutarate dehydrogenase complex with tissue-specific patterns of expression
Richard M. Denton, Timothy J. Pullen, Craig T. Armstrong, Kate J. Heesom, Guy A. Rutter
Biochem J. Author manuscript; available in PMC 2018 Aug 20.
Published in final edited form as: Biochem J. 2016 May 1; 473(9): 1165–1178. Published online 2016 Mar 2. doi: 10.1042/BCJ20160135
PMCID:
PMC6101200
AbstractArticlePDF–3.1M
20.
Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD)
Viviana Lo Martire, Sara Alvente, Stefano Bastianini, Chiara Berteotti, Cristiano Bombardi, Giovanna Calandra-Buonaura, Sabina Capellari, Gary Cohen, Pietro Cortelli, Laura Gasparini, Quasar Padiath, Alice Valli, Giovanna Zoccoli, Alessandro Silvani
Exp Neurol. Author manuscript; available in PMC 2019 Mar 1.
Published in final edited form as: Exp Neurol. 2018 Mar; 301(Pt A): 1–12. Published online 2017 Dec 17. doi: 10.1016/j.expneurol.2017.12.006
PMCID:
PMC5809293
AbstractArticlePDF–744K

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