Year: 2015

charcot-marie-tooth 2A

A new Database of Mitofusin2 mutations

A new MFN2 mutations database, defined by our researchers within the study G. Stuppia, et to the., MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives, J Neurol Ski (2015) , has just been published on our website. It is a chart with a list of MFN2 mutations reported in literature. There are 8 columns containing: We

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SAVE THE DATE: “Growing and getting old with Charcot-Marie-Tooth”

We are all invited to the CMT France Conference that will be held on March, 19th in Nice: “Growing and getting old with Charcot-Marie-Tooth”. There will be important French experts (and the Italian Dr Sabrina Sacconi), who will address the different problems created by this pathology throughout life (from childhood to adolescence, until old age) and the way to face

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charcot-marie-tooth 2A

How the mutant molecules cause CMT according to scientists

We would like to draw your attention to this scientific study (CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase) issued in October 2015 by Nature. According to Professor Samuel Pfaff, one of the principal authors of the article together with Professor Xiang-Lei Yang, this study solves a long time mistery: how the mutation

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KOFAX CONNECTIONS 2015 IDOL CMT2A

That is an original way invented by Meucci’s family to raise awareness about Charcot-Marie-Tooth 2A among an audience consisted by 400 employees of the multinational Kofax (Lexmark Group) . Marco Meucci, father of Leonardo (an 8-year-old boy suffering from CMT2A ), helped by his friend and supported by his wife and their other two

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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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ATLAS lower limb exoskeleton

Many researchers coming from different areas have focused their attention and their studies over recent years on a new generation of exoskeletons: bionic legs that, although do not replace completely the wheelchair, allow their users to assume the standing position again.Succeeding in making to walk again who is forced on

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