Tag: disabilità motoria

charcot-marie-tooth 2A

Neuromuscular Diseases’ Day: GMN 2024

The Seventh Day of Neuromuscular Diseases – GMN 2024- will be held on April 13, 2024. The event will take place simultaneously in 19 Italian cities linked to the most important centers for the study of neuromuscular diseases: Ancona, Bari, Bologna, Brescia, Cagliari, Chieti, Genoa, Messina, Milan, Naples, Palermo, Parma,

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Centro di ricerca Dino Ferrari

MFN2 at Mitochondrial medicine in Hixton, UK

Our researchers, directed by the Prof. Nereo Bresolin, Prof.Giacomo Comi and Prof. Stefania Corti, took part at the International Congress held at Hinxton, Cambridge from 4 to May 6, entitled: MITOCHONDRIAL MEDICINE:DEVELOPING NEW TREATMENTS FOR MITOCHONDRIAL DISEASE bringing a very specific contribution on Mitofusin 2 with the study named: Selective mitochondrial depletion, apoptosis

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associazione parenti

Workshop on GENE THERAPY

We were delighted to announce the workshop: GENE THERAPY FOR INHERITED NEUROMUSCULAR DISORDERSFebruary 8th, 2016Aula Invernizzi, National Institute of Molecular Genetics (INMG)Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoVia Sforza 35, Milan, Italy with the distinguished Professor Brian Kaspar from Nationwide Children’s Hospital of Colombus, Ohio. The workshop will be carried out under the responsibility

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charcot-marie-tooth 2A

Socially living with cmt

A very touching article for all of us…thank you for sharing Timmy! My daily life became more challenging as time passed. Not a day went by that I didn’t wish I was someone else — with a love for life, more spring in my steps, and the will to make

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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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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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