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Items: 1 to 20 of 21

1.
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
2.
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
3.
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity
Francesca Cristofoli, Tonya Moss, Hannah W. Moore, Koen Devriendt, Heather Flanagan-Steet, Melanie May, Julie Jones, Filip Roelens, Carmen Fons, Anna Fernandez, Loreto Martorell, Angelo Selicorni, Silvia Maitz, Giuseppina Vitiello, Gerd Van der Hoeven, Steven A. Skinner, Mathieu Bollen, Joris R. Vermeesch, Richard Steet, Hilde Van Esch
Am J Hum Genet. 2020 Oct 1; 107(4): 753–762. Published online 2020 Sep 9. doi: 10.1016/j.ajhg.2020.08.015
PMCID:
PMC7536573
AbstractArticlePDF–2.1M
4.
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
5.
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
6.
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy
Bruce Nmezi, Elisa Giorgio, Raili Raininko, Anna Lehman, Malte Spielmann, Mary Kay Koenig, Rahmat Adejumo, Melissa Knight, Ralitza Gavrilova, Murad Alturkustani, Manas Sharma, Robert Hammond, William A. Gahl, Camilo Toro, Alfredo Brusco, Quasar S. Padiath
Neurol Genet. 2019 Feb; 5(1): e305. Published online 2019 Jan 24. doi: 10.1212/NXG.0000000000000305
Correction in:
Neurol Genet. 2019 Oct; 5(5): e362.
PMCID:
PMC6384018
AbstractArticlePDF–402K
7.
Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi
Neurol Genet. 2018 Dec; 4(6): e292. Published online 2018 Dec 7. doi: 10.1212/NXG.0000000000000292
PMCID:
PMC6340331
AbstractArticlePDF–482K
8.
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
9.
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
10.
LMNB1‐related autosomal‐dominant leukodystrophy: Clinical and radiological course
Johannes Finnsson, Jimmy Sundblom, Niklas Dahl, Atle Melberg, Raili Raininko
Ann Neurol. 2015 Sep; 78(3): 412–425. Published online 2015 Jul 27. doi: 10.1002/ana.24452
PMCID:
PMC5054845
AbstractArticlePDF–1008K
11.
Timing, rates and spectra of human germline mutation
Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles
Nat Genet. Author manuscript; available in PMC 2016 Jun 14.
Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469
PMCID:
PMC4731925
AbstractArticlePDF–1.6M
12.
Defects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 Overexpression
Harshvardhan Rolyan, Yulia Y. Tyurina, Marylens Hernandez, Andrew A. Amoscato, Louis J. Sparvero, Bruce C. Nmezi, Yue Lu, Marcos R. H. Estécio, Kevin Lin, Junda Chen, Rong-Rong He, Pin Gong, Lora H. Rigatti, Jeffrey Dupree, Hülya Bayır, Valerian E. Kagan, Patrizia Casaccia, Quasar S. Padiath
J Neurosci. 2015 Aug 26; 35(34): 12002–12017. doi: 10.1523/JNEUROSCI.1668-15.2015
Correction in:
J Neurosci. 2016 Jul 13; 36(28): 7557.
PMCID:
PMC4549407
AbstractArticlePDF–5.6M
13.
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
14.
Messenger RNA processing is altered in autosomal dominant leukodystrophy
Anna Bartoletti-Stella, Laura Gasparini, Caterina Giacomini, Patrizia Corrado, Rossana Terlizzi, Elisa Giorgio, Pamela Magini, Marco Seri, Agostino Baruzzi, Piero Parchi, Alfredo Brusco, Pietro Cortelli, Sabina Capellari
Hum Mol Genet. 2015 May 15; 24(10): 2746–2756. Published online 2015 Jan 30. doi: 10.1093/hmg/ddv034
Correction in:
Hum Mol Genet. 2017 Oct 1; 26(19): 3868.
PMCID:
PMC4406291
AbstractArticlePDF–538K
15.
Vitamin B12 Deficiency: An Important Reversible Co-Morbidity in Neuropsychiatric Manifestations
Thomas Gregor Issac, Soundararajan Soundarya, Rita Christopher, Sadanandavalli Retnaswami Chandra
Indian J Psychol Med. 2015 Jan-Mar; 37(1): 26–29. doi: 10.4103/0253-7176.150809
PMCID:
PMC4341306
AbstractArticlePDF–593K
16.
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
17.
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
18.
Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model
Mary Y. Heng, Shu-Ting Lin, Laure Verret, Yong Huang, Sherry Kamiya, Quasar S. Padiath, Ying Tong, Jorge J. Palop, Eric J. Huang, Louis J. Ptácχek, Ying-Hui Fu
J Clin Invest. 2013 Jun 3; 123(6): 2719–2729. Published online 2013 May 15. doi: 10.1172/JCI66737
PMCID:
PMC3668844
AbstractArticlePDF–4.2M
19.
Nuclear Lamin Functions and Disease
Veronika Butin-Israeli, Stephen A. Adam, Anne E. Goldman, Robert D. Goldman
Trends Genet. Author manuscript; available in PMC 2013 Sep 1.
Published in final edited form as: Trends Genet. 2012 Sep; 28(9): 464–471. Published online 2012 Jul 12. doi: 10.1016/j.tig.2012.06.001
PMCID:
PMC3633455
ArticlePDF–692K
20.
Nuclear lamins in the brain—new insights into function and regulation
Hea-Jin Jung, John M. Lee, Shao H. Yang, Stephen G. Young, Loren G. Fong
Mol Neurobiol. Author manuscript; available in PMC 2014 Feb 1.
Published in final edited form as: Mol Neurobiol. 2013 Feb; 47(1): 290–301. Published online 2012 Oct 14. doi: 10.1007/s12035-012-8350-1
PMCID:
PMC3538886
AbstractArticlePDF–1.1M

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