Tag: ricerca genetica

Federica Rizzo e Agnese Ramirez al Consortium CMTR
6th International Charcot-Marie Tooth and Related Neuropathy Consortium (CMTR) Meeting

The contribution of our researchers to CMTR Consortium

We publish an abstract of the study presented at the CMTR CONSORTIUM by our researchers Dr FEDERICA RIZZO and Dr AGNESE RAMIREZ from Dino Ferrari Center: FUNCTIONAL ANALYSIS AND GENOME-WIDE RNA-SEQ OF HUMAN MOTOR NEURONS IMPLICATE SELECTIVE MITOCHONDRIAL DEPLETION, RESISTANCE TO APOPTOSIS AND INCREASED MITOPHAGY IN CHARCOT-MARIE-TOOTH 2A Rizzo F, Ramirez A, Ronchi R.,

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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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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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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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