Page 107 - MEMOCiberer014-ENG

Most relevant scientific articles
• Garrabou G, HernànDez as, catalán García m, morén c, tobías e, córDoba s, lópez m, FiGueras F, Grau Jm, carDellacH . Molecular basis of reduced birth weight in smoking pregnant women: mitochondrial dys- function and apoptosis . Addict Biol 2014; In press . PMID 25186090 . IF 5 .93 Q1D1
• prieto-González s, Depetris m, García-martínez a, espíGol-FriGolé G, taVera-baHillo i, corbera-bellata m, pla- nas-riGol e, alba ma, HernánDez-roDríGuez J, Grau Jm, lomeña F, ciD mc . Positron emission tomography assessment of large vessel inflammation in patients with newly diagnosed, biopsy-proven giant cell arteritis: a prospective, case-control study . Ann Rheum Dis ;Jul . 73(7):1388-92 . PMID 24665112 . IF 9 .27 Q1D1
• selVa-o’callaGHan a, trallero-araGuás e, Grau Jm . Eosinophilic myositis: an updated review . Autoimmun Rev ;13(4-5):375-8 . PMID 24424174 . IF 7 .095 Q1D1
• labraDor-Horrillo m, martínez ma, selVa-o’callaGHan a, trallero-araGuás e, Grau-Junyent Jm, VilarDell- tarrés m, Juarez c . Identification of a novel myositis-associated antibody directed against cortactin . Autoimmun Rev ;Oct . 13(10):1008-12 . PMID 25182205 . IF 7 .095 Q1D1
• catalán m, selVa-o’callaGHan a, Grau Jm . Diagnosis and classification of sporadic inclusion body myosi- tis (sIBM) . Autoimmun Rev ;13(4-5):363-6 . PMID 24424185 . IF 7 .095 Q1D1
Highlights
Institution: Hospital Clínico y Provincial de Barcelona Contact: Hospital Clinic de Barcelona (HCB) c/ Villarroel, 170 . Barcelona Phone: (+34) 93 227 54 00- Ext 2907 E .mail: fcardell@clinic .ub .es · http://www .idibaps .org/recerca/704/recerca-muscular-i-funcio-mitocondrial
The Unit U722 is a multidisciplinary team with both clinicians and basic researchers that focuses its research interests in the clinical assistance and translational research . We parallelaly diagnose and follow up patients with RD and research about the molecular basis, diagnostic/prognostic biomarkers and potential treatments for these diseases . We collaborate in:(i)PIBER-1:genomic medicine of Mitochondrial Medicine Program for the study of the EXOMA of patients with mitochondrial RD (TK2 mutations in adulthood);(ii)PIBER-2:physiopathology of RD (mtDNA maintenance syndromes) with U701,U717,U723 and U727; as well as (iii) in PIBERs 3 and 4:clinic and therapeutic research in RD specialized into to the following categories: (a) obstetric problems:intrauterine growth restriction with U719 (FIS1201199); (b)neurodegeneration:novel biomarkers for X-fragile syndrome with U726 (FIS1200879); familial Parkinson disease with CIBERNED (FIS1100462); common molecular mechanisms among RD,Parkinson,diabetes and Alzheimer (InterCIBER PIE1400061,12 groups CIBER); (c) myopathies: novel biomarkers for sporadic inclusion body myositis with U713 and U703; (d)mitochondrial toxicity (FIPSE 360982); (e)myocardiopathies:mitochondrial base of cardiac insufficiency; (f) mitochondrial genetic diseases: genetic therapy in MNGIE with U701 and U714 (ACCI) . We administer 2 orphan drugs for rare myopathies and Pompe disease . Cellex Foundation allowed facility and human resources private funding . We also collaborate in PITER- 1:(a)diagnosis of RD (with U701;U729;U717);(b)translation to the NHS of new diagnostic methods (with U7 17,U737,U701,U723,U727,U729);(c)clinical guide redaction for family/specialist clinicians; (d) creation of the ‘Medical Assistance Group of Adult Patients with Rare Diseases’ and the ‘Attention Unit for Patients with Inborn Errors of Metabolism’ (U703,U737 and U722) and the Internal Medicine/Endocrinology/Nutrition/Neurology/ Gineacology services of the Hospital Clinic of Barcelona (intramural/CIBERER-2010), PITER-2: we collaborate through the donation of samples to the CIBERER Biobank and PITER-3: practical student training (grade;master ;PhD;MD;residents), tutorial CIBERER program and university classes (grade/master) . Our researchers participate in mobility programs, CIBERER courses and meetings, diffusion of collaborative publications, international congresses and clinical assistance of consultancies directed to the CIBERER/Orphanet .
www .ciberer .es 107