Tag: Charcot-Marie-Tooth neuropathy type 2A

Centro Dino Ferrari

An important update to our research project on CMT2A

Despite all, the research did not stop. And never will. Our Scientific Committee devoted some of the recent months’ work to the review and study of the literature on currently available animal models of the pathology, in order to identify disease markers essential to assess the effectiveness of our therapy.

Read More »
Charcot-Marie-Tooth neuropathy type 2A

EURORDIS open letter to politicians: Recommendations to protect people suffering from a rare disease during the COVID-19 pandemic

EURORDIS, the voice of rare patients in Europe, has written an open letter to politicians containing some recommendations to follow in order to protect those suffering from a rare disease (over 300 million people worldwide) during the COVID-19 pandemic . “To leave no one behind in this pandemic”, especially those who are among

Read More »
Charcot-Marie-Tooth neuropathy type 2A

Latest scientific studies on Pubmed about CMT2A

In this article we propose the reading of scientific studies which come from China. Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot‐Marie‐Tooth disease. In the first one, a cohort of 150 patients unrelated with CMT from the South-East of China has been studied. Scientists found 19 new

Read More »
charcot-marie-tooth 2A

CMT2A: recent interesting scientific studies published on Pubmed

We would like to bring some scientific studies about CMT2A we recently found on Pubmed to your attention. We divided them by country as we usually do on our website, in the section Resources, where you can find a large literature about Charcot-Marie-Tooth type 2A.  Severe cognitive impairment in a patient with CMT2A. Tomaselli PJ, Kapoor M, Cortese A, Polke JM,

Read More »
Charcot-Marie-Tooth neuropathy type 2A

CMT2A: recent scientific studies published in Pubmed

In this article we propose the reading of scientific studies that come from the United States. The first one is a study about two US families with a new late-onset mutation: L ate onset CMT2A in a Family with an MFN2 Variant: c.2222T> G (p.Leu741Trp). The second is a study on

Read More »
charcot-Marie-Tooth disease

A new and interesting publication on Mitofusin 2

A new and interesting study, carried out in Usa, about correcting mitochondrial fusion by manipulating mitofusin has just been published by the eminent scientific journal Nature. This might be a whole new approach! Click on the link below: http://www.nature.com/nature/journal/vaap/ncurrent/full/nature20156.html#author-information

Read More »

The scientific importance of Mitofusin is growing

The scientific relevance of Mitofusin is now growing. In 2013, studies involving this protein were about 200; if you try typing the word Mitofusin on Pubmed search (as shown below) today, the list gets far more considerable: 519 studies carried out all over the world! Mitofusin  turns out to be a very important protein whose functions are studied

Read More »

The latest Updated Scientific Publications about CMT2A

Here to you a list of interesting and updated studies, for people suffering from CMT2A, carried out in some of the most famous Centers of Research in the world. We have collected them through PubMed  (US National Library of Medicine) the most important database of biomedical literature. Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay:

Read More »
Join our mailing list. Always stay up to date.