Page 95 - CIBERER2016-ENG

Most relevant scientific articles
• Cruz S., Cortes-Vicente E., Illa I., Rojas-Garcia R. Transthyretin-related hereditary amyloid polyneuropathy presenting with large fibre involvement and cardiomyopathy. Amyloid. 2016;23(1):64-65.
• Van Rheenen W., Shatunov A., Dekker A.M., McLaughlin R.L., Diekstra F.P., Pulit S.L. et al. Genome- wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nature Genetics. 2016;48(9):1043-1048.
• Sanders D.B., Wolfe G.I., Benatar M., Evoli A., Gilhus N.E., Illa I. et al. International consensus guidance for management of myasthenia gravis: Executive summary. Neurology. 2016;87(4):419-425.
• Figueroa-Bonaparte S., Segovia S., Llauger J., Belmonte I., Pedrosa I., Alejaldre A. et al. Muscle MRI findings in childhood/adult onset pompe disease correlate with muscle function. PLoS ONE. 2016;11(10).
• Cortes-Vicente E., Gallardo E., Martinez.M.A., Diaz-Manera J., Querol L., Rojas-Garcia R. et al. Clinical characteristics of patients with double-seronegative myasthenia gravis and antibodies to cortactin. JAMA Neurology. 2016;73(9):1099-1104.
Hightlights
ERN accreditation (European Reference Network)
After obtaining the CSUR accreditation, the Neuromuscular unit applied to the European ERN accreditation which has also been resolved favorably, forming part of the ERN: EURO-NMD.
NATIONAL REGISTRY OF NEUROMUSCULAR DISEASES.ENM-EN
Currently in CIBERER, it has 5,166 patients included. The connection is maintained with RD-CONNECT and TREAT-NMD.
ISO LABORATORy. The research activity of the group has a very important translational component. Some of the research results have resulted in diagnostic tests performed in our laboratory of Neuromuscular Diseases and we receive national and international samples. In 2015 the laboratory was audited and received ISO9001 accreditation. In May 2016, an external audit was completed favorably to renew ISO9001.
PARTICIPATION IN EUROPEAN COMMITTEES
The group participates actively in European committees related to several diseases well associated to Scientific Societies (EFNS) well connected with the European Economic Community. This is the case, for example, in the COST European Action program “MRI and MRS in neuromuscular diseases (MYO-MRI)” or ENMC workshops.
FINANCING CALL FOR FIS 2016 ILLA FIS PI16 / 01440
QUEROL FIS PI16 / 00627
DOCTORAL THESIS
Usefulness of muscle imaging studies in the diagnosis of a group of myopathies with axial weakness. Universitat Autònoma de Barcelona Aida Alejaldre Monforte 11/8/2016.
New diagnostic biomarkers and prognostic factors in myasthenia gravis. Universitat Autònoma de Barcelona Alba Ramos Fransi. 02/2016.
V COURSE NEUROMUSCULAR DISEASES. Fifth edition.Training of neurologists in clinical aspects of these diseases and in participation in research (through registry of the patients and practices in the laboratory). It has a clausus number of registrations and has a great acceptance.
RELEVANT RESULTS
Description of new muscular MRI patterns in different muscular dystrophies.
Demonstration of the benefit of thymectomy in myasthenia.
Advances in the natural history of dysferlinopathies.
Identification of new risk variants of ALS.
New methods to identify biomarkers in CIDP and Myasthenia.
ER
research groups 95