Tag: CMT5

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

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“Il pranzo del Sorriso”, Mitofusin 2 Project event

We would like to inform you that we are going to organize the event “Il pranzo del Sorriso” (the Smile Lunch) that will be held (as usual) in Rignano sull’Arno (FI) on Sunday, 6 September 2015. A  time of joy and happiness we used to share with the people of this beautiful village located in the hills of Florence; an important occasion to

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MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives

A new scientific study has been completed by our team. The interesting audit work coordinated by Dr Giulia Stoppia and made by our outstanding research team just got published in the important Journal of the Neurological Sciences.  “Here, we present the clinical, genetic and neuropathological features of human diseases associated with MFN2 mutations. We also report

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The 197th Laboratory ENMC about Mitofusin 2

A very interesting news has been brought to our own attention by CMT France Association. It concerns the 197th Laboratory ENMC entitled “Neuromuscular disorders of mitochondrial fusion and fission – Molecular mechanisms and therapeutic strategies” which took place in April 2013 in Naarden, Netherlands (the report of which has been recently published). The European Neuromuscular Centre (ENMC) is an international organisation aimed at

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Muscle cramps and CMT

A study conducted by Prof. Michael Shy and other scientists from Usa and Australia on a sample of 110 patients with CMT  showed that many of them suffered  with a weekly frequence and 23% of them had daily muscle cramps. Twenty-two percent reported a significant impact on quality of life. It would be interesting to know what

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