U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 15

1.
A Novel Missense Mutation of CMT2P Alters Transcription Machinery
Bo Hu, Sezgi Arpag, Stephan Zuchner, Jun Li
Ann Neurol. Author manuscript; available in PMC 2017 Dec 1.
Published in final edited form as: Ann Neurol. 2016 Dec; 80(6): 834–845. Published online 2016 Sep 27. doi: 10.1002/ana.24776
PMCID:
PMC5177458
ArticlePubReaderPDF–783KCite
2.
LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond
Paulius Palaima, José Berciano, Kristien Peeters, Albena Jordanova
Orphanet J Rare Dis. 2021; 16: 74. Published online 2021 Feb 10. doi: 10.1186/s13023-020-01654-8
PMCID:
PMC7874611
ArticlePubReaderPDF–1.6MCite
3.
Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR
Anna Minaidou, Paschalis Nicolaou, Kyproula Christodoulou
PLoS One. 2019; 14(2): e0211814. Published online 2019 Feb 6. doi: 10.1371/journal.pone.0211814
PMCID:
PMC6364939
ArticlePubReaderPDF–1.3MCite
4.
ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease
Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L. Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H. St George-Hyslop, Orlando G. P. Barsottini, Toshitaka Kawarai, Antonio Orlacchio
Brain. 2016 Jan; 139(1): 73–85. Published online 2015 Nov 10. doi: 10.1093/brain/awv320
PMCID:
PMC5839554
ArticlePubReaderPDF–1.4MCite
5.
LRSAM1 Depletion Affects Neuroblastoma SH-SY5Y Cell Growth and Morphology: The LRSAM1 c.2047-1G>A Loss-of-Function Variant Fails to Rescue The Phenotype
Anna Minaidou, Paschalis Nicolaou, Kyproula Christodoulou
Cell J. 2018 Autumn; 20(3): 340–347. Published online 2018 May 28. doi: 10.22074/cellj.2018.5352
PMCID:
PMC6004992
ArticlePubReaderPDF–1.2MCite
6.
Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype
Leema Reddy Peddareddygari, Kinsi Oberoi, Jaasrini Reddy Vellore, Raji P. Grewal
Case Rep Neurol. 2016 May-Aug; 8(2): 120–126. Published online 2016 Jun 6. doi: 10.1159/000446872
PMCID:
PMC4939679
ArticlePubReaderPDF–824KCite
7.
C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model
Daniel Moiseev, Zafar Wazir, Donghao Liu, Jun Li, Bo Hu
Sci Rep. 2022; 12: 12160. Published online 2022 Jul 16. doi: 10.1038/s41598-022-15902-3
PMCID:
PMC9288509
ArticlePubReaderPDF–3.0MCite
8.
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea
J Neuromuscul Dis. 2022; 9(1): 193–210. Prepublished online 2021 Sep 24. Published online 2022 Jan 4. doi: 10.3233/JND-210652
PMCID:
PMC8842757
ArticlePubReaderPDF–779KCite
9.
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease
Andrea Cortese, Janel E. Wilcox, James M. Polke, Roy Poh, Mariola Skorupinska, Alexander M. Rossor, Matilde Laura, Pedro J. Tomaselli, Henry Houlden, Michael E. Shy, Mary M. Reilly
Neurology. 2020 Jan 7; 94(1): e51–e61. doi: 10.1212/WNL.0000000000008672
Correction in:
Neurology, volume 98 on page 384
PMCID:
PMC7011687
ArticlePubReaderPDF–512KCite
10.
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2
Alessia Peretti, Maud Perie, Didier Vincent, Françoise Bouhour, Klaus Dieterich, Martial Mallaret, Fanny Duval, Cyril Goizet, Raul Juntas-Morales, Laurent Magy, Guilhem Solé, Sylvain Nollet, Adeline Not, Sarah Léonard-Louis, Bruno Francou, Eric Leguern, Anne-Sophie Lia, Corinne Magdelaine, Philippe Latour, Tanya Stojkovic
Eur J Hum Genet. 2019 Sep; 27(9): 1406–1418. Published online 2019 Apr 17. doi: 10.1038/s41431-019-0403-8
PMCID:
PMC6777460
ArticlePubReaderPDF–1.2MCite
11.
A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance
Maik Engeholm, Julia Sekler, David C Schöndorf, Vineet Arora, Jens Schittenhelm, Saskia Biskup, Caroline Schell, Thomas Gasser
BMC Neurol. 2014; 14: 118. Published online 2014 Jun 3. doi: 10.1186/1471-2377-14-118
PMCID:
PMC4060843
ArticlePubReaderPDF–697KCite
12.
Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease
Laurent P. Bogdanik, James N. Sleigh, Cong Tian, Mark E. Samuels, Karen Bedard, Kevin L. Seburn, Robert W. Burgess
Dis Model Mech. 2013 May; 6(3): 780–792. Published online 2013 Mar 8. doi: 10.1242/dmm.010942
PMCID:
PMC3634660
ArticlePubReaderCite
13.
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease
Paschalis Nicolaou, Carlo Cianchetti, Anna Minaidou, Giovanni Marrosu, Eleni Zamba-Papanicolaou, Lefkos Middleton, Kyproula Christodoulou
Eur J Hum Genet. 2013 Feb; 21(2): 190–194. Published online 2012 Jul 11. doi: 10.1038/ejhg.2012.146
PMCID:
PMC3548253
ArticlePubReaderPDF–949KCite
14.
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
Marian A.J. Weterman, Vincenzo Sorrentino, Paul R. Kasher, Marja E. Jakobs, Baziel G.M. van Engelen, Kees Fluiter, Marit B. de Wissel, Aleksander Sizarov, Gudrun Nürnberg, Peter Nürnberg, Noam Zelcer, H. Jurgen Schelhaas, Frank Baas
Hum Mol Genet. 2012 Jan 15; 21(2): 358–370. Published online 2011 Oct 19. doi: 10.1093/hmg/ddr471
PMCID:
PMC3276280
ArticlePubReaderPDF–649KCite
15.
Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease
Duane L. Guernsey, Haiyan Jiang, Karen Bedard, Susan C. Evans, Meghan Ferguson, Makoto Matsuoka, Christine Macgillivray, Mathew Nightingale, Scott Perry, Andrea L. Rideout, Andrew Orr, Mark Ludman, David L. Skidmore, Timothy Benstead, Mark E. Samuels
PLoS Genet. 2010 Aug; 6(8): e1001081. Published online 2010 Aug 26. doi: 10.1371/journal.pgen.1001081
PMCID:
PMC2928813
ArticlePubReaderPDF–741KCite

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center