Tag: malattia neuromuscolare

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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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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charcot-marie-tooth 2A

CMT2A: recent interesting studies on Pubmed

We should like to bring some scientific studies we recently found on Pubmed to your attention. We divided them by country as we usually do on our website among resources where you can find a large literature about CMT2A. KOREA An interesting study carried out in Korea: the protein Mitofusin 2 has been investigated using a sample of 607 families with Charcot-Marie-Tooth, including

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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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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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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

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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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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