Page 157 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
querol l, illa i. Paranodal and other autoantibodies in chronic inflammatory neuropathies. Curr Opin Neurol. 2015 Oct;28(5):474-9.
querol l, roJas-garcía r, díaZ-manera J, Barcena J, Pardo J, ortega-moreno a, sedano mJ, seró-Balles- teros l, carVaJal a, ortiZ n, gallardo e, illa i. Rituxi- mab in treatment-resistant CIDP with antibodies against paranodal proteins. Neurol Neuroimmunol Neuroinflamm. 2015 Sep 3;2(5):e149.
Bet s, clarimon J, gallano P, roJas-garcía r, gallardo e, illa i. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes. Neuromuscul Disord. 2016 Jan;26(1):33-40.
ramos-Fransi a, roJas-garcía r, segoVia s, márqueZ-in- Fante c, Pardo J, coll-cantí J, Jericó i, illa i. Myasthe- nia gravis: descriptive analysis of life-threatening events in a recent nationwide registry. Myasthenia NMD-ES Study Group. Eur J Neurol. 2015 Jul;22(7):1056-61.
díaZ-manera J, aleJaldre a, gonZáleZ l, oliVé m, gómeZ-andrés d, muelas n, VílcheZ JJ, llauger J, car- Bonell P, márqueZ-inFante c, FernándeZ-torrón r, PoZa JJ, lóPeZ de munáin a, gonZáleZ-quereda l, mira-
Highlights
The group is composed of clinical and basic research- ers. Our clinical work is mainly focused on rare genet- ically determined neuromuscular diseases (muscular dystrophies), neurodegenerative diseases (ALS), and immune-mediated (gravis, CIDP, inflammatory myopa- thies). In October 2015, following an audit (clinical care, teaching, research) we obtained the approval of the Ministry of Health as a CSUR center in neuromuscular diseases.
In Europe there is an initiative similar to CSUR, the ERN (European Reference Networks). We participate in de- signing criteria for the ERN- Neuromuscular network.
Research activity has a significant translational com- ponent. Part of the results of the investigation of bio- markers, result in diagnostic tests that are performed in our laboratory (samples national / international), which in 2015 received the ISO9001 accreditation.
Research areas: 1) muscular dystrophies, FISPI12 / 02291 (secretome, muscular microRNAs RMN). Stud- ies continue in FISPI15 / 01822 (PDGF as a biomarker and therapeutic target). 2) ELA (neurodegenerative dis- ease), the group has research experience in genetics and epidemiology. Current projects (MaratóTV3 and
huiJBers mg, querol la, niKs eh, PlomP JJ, Van der maarel sm, graus F, dalmau J, illa i, Verschuuren JJ. The expanding field of IgG4-mediated neurológical auto- immune disorders. Eur J Neurol. 2015 Aug;22(8):1151-61.
FISPI15 / 01618) to develop neuroradiological stud- ies and biomarkers in CSF of patients with ALS and ALS with dementia. 3) autoimmune diseases. CIDP, gravis. Search for new autoantibodies, basic immune response mechanisms in the IgG4; efficacy of a Mab in patients with autoantibodies described by us. Euro- pean funds (E-rares, AFM (17215 and 18476), private foundations (GBS-CIDP Foundation and Myositis As- sociation), FISPI13 / 0937. Dermatomyositis and in- nate immunity. FISPI15 / 01597.
We lead the National Registry of ENM-ES. This data- base, currently included in CIBERER, has more than 5000 patients included and the work of the last two years has been the connection of this registry with RD-CONNECT and TREAT-NMD.
We participate in European committees, at present 6 doctoral thesis are in progress, we conducted an annu- al training course on neuromuscular diseases, in 2015 participated as speakers in 8 international and national meetings and have contributed as experts in five pa- tient’s associations meetings.
Institution: Instituto de Investigación del Hospital de la Santa Creu i Sant Pau.
Contact: S Antoni Ma Claret 167. 08025 barcelona · Tel.: 93 556 59 77 · E.mail: [email protected] Website: http://www.neuromuscularbcn.org/
CIBERER I Annual report 2015 I 157