Tag: HMSN

charcot-marie-tooth 2A

Rare Disease Day 2024

The countdown to celebrate Rare Disease Day 2024 has begun. Patient organizations around the world have already scheduled many events and many more are about to. Common goal? Raising public awareness and generating change for the 300 million people around the world living with a rare disease (such as CMT2A),

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charcot-marie-tooth 2A

CMT2A: a new big step towards the treatment

Let’s close the year with some great news. The study carried out by Dr Rizzo, with the team directed by Prof.ssa Corti of the Dino Ferrari Centre/University of Milan, has been published in the journal Cellular and Molecular Life Science. That scientific study represents an important advance for our research

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6th International Charcot-Marie Tooth and Related Neuropathy Consortium (CMTR) Meeting

International CMTR Meeting in Venice

The “6th International Charcot-Marie-Tooth and Related Neuropathy Consortium (CMTR) Meeting” will be held in Venice-Mestre, Italy, on 8-9-10 September 2016. Our association will be attending this important meeting involving the most distinguished scientists in this field, including some of the members of our Scientific Commettee, as supporter. We will be there with

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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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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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