Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking

Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a member of the myotubularin family, the MTMR2 protein is crucial for the modulation of membrane trafficki...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Front Neurosci
Egile Nagusiak: Wang, Haicui, Kaçar Bayram, Ayşe, Sprute, Rosanne, Ozdemir, Ozkan, Cooper, Emily, Pergande, Matthias, Efthymiou, Stephanie, Nedic, Ivana, Mazaheri, Neda, Stumpfe, Katharina, Azizi Malamiri, Reza, Shariati, Gholamreza, Zeighami, Jawaher, Bayram, Nurettin, Naghibzadeh, Seyed Kianoosh, Tajik, Mohamad, Yaşar, Mehmet, Sami Güven, Ahmet, Bibi, Farah, Sultan, Tipu, Salpietro, Vincenzo, Houlden, Henry, Per, Hüseyin, Galehdari, Hamid, Shalbafan, Bita, Jamshidi, Yalda, Cirak, Sebahattin
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Frontiers Media S.A. 2019
Gaiak:
Neuroscience
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6807680/
https://ncbi.nlm.nih.gov/pubmed/31680794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnins.2019.00974
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