A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance-Reference-Cited by-同舟云学术

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A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance

Published:2014-06-03 Issue:1 Volume:14 Page:
ISSN:1471-2377
Container-title:BMC Neurology
language:en
Short-container-title:BMC Neurol

Author:

Engeholm Maik,Sekler Julia,Schöndorf David C,Arora Vineet,Schittenhelm Jens,Biskup Saskia,Schell Caroline,Gasser Thomas

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/1471-2377-14-118.pdf

Reference22 articles.

1. Vallat J-M, Mathis S, Funalot B: The various charcot-marie-tooth diseases. Curr Opin Neurol. 2013, 26 (5): 473-480. 10.1097/WCO.0b013e328364c04b.

2. Braathen GJ, Sand JC, Lobato A, Høyer H, Russell MB: Genetic epidemiology of charcot-marie-tooth in the general population. Eur J Neurol. 2011, 18 (1): 39-48. 10.1111/j.1468-1331.2010.03037.x.

3. Rossor AM, Polke JM, Houlden H, Reilly MM: Clinical implications of genetic advances in charcot-marie-tooth disease. Nat Rev Neurol. 2013, 9 (10): 562-571. 10.1038/nrneurol.2013.179.

4. Tazir M, Bellatache M, Nouioua S, Vallat J-M: Autosomal recessive charcot-marie-tooth disease: from genes to phenotypes. J Peripher Nerv Syst. 2013, 18 (2): 113-129. 10.1111/jns5.12026.

5. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI: Dna duplication associated with charcot-marie-tooth disease type 1a. Cell. 1991, 66 (2): 219-232. 10.1016/0092-8674(91)90613-4.

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1. A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing;Journal of the Peripheral Nervous System;2024-06

2. A deep intronic variant inMMEcauses autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing;2024-04-24

3. LRSAM1 E3 Ubiquitin Ligase Promotes Choriocarcinoma Progression and Metastasis via p53/p21 Signaling Impediment;BioMed Research International;2022-08-31

4. C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model;Scientific Reports;2022-07-16

5. LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond;Orphanet Journal of Rare Diseases;2021-02-10

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