Search Results - "Milisenda, José"
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1
The pattern of MHC class I expression in muscle biopsies from patients with myositis and other neuromuscular disorders
Published in Rheumatology (Oxford, England) (01-09-2023)“…Diagnostic muscle biopsies are routinely immunostained for major histocompatibility complex class I (MHC-I) protein. In this study we analysed the prevalence…”
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2
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects
Published in Journal of neurology (01-03-2019)“…Objective Hereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and considered quite rare. Respiratory…”
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3
Mitochondrial implications in human pregnancies with intrauterine growth restriction and associated cardiac remodelling
Published in Journal of cellular and molecular medicine (01-06-2019)“…Intrauterine growth restriction (IUGR) is an obstetric complication characterised by placental insufficiency and secondary cardiovascular remodelling that can…”
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4
A disabling case of chronic external ophthalmoplegia cleverly overcomed
Published in Medicina clinica (24-12-2020)Get more information
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5
Dermatomyositis unleashed by immune checkpoint inhibitors. Three additional cases and a review of the literature
Published in Autoimmunity reviews (01-08-2023)“…Immune checkpoint inhibitors (ICI) have revolutionized the treatment of several locally advanced and metastatic tumors. They enhance the effector function of…”
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Amyloid polyneuropathy in 2 patients after liver transplantation
Published in Neurology (02-01-2018)Get full text
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7
Statin-induced myalgia and myositis: an update on pathogenesis and clinical recommendations
Published in Expert review of clinical immunology (04-03-2018)“…Musculoskeletal manifestations are well-recognized side effects of treatment with statins. New advances in this field have appeared in recent years. This…”
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Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies
Published in Neurology (09-03-2021)“…To accurately categorize the phenotypes of individuals with collagen VI-related dystrophies (COL6-RDs) during the first years of life to predict long-term…”
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9
Massive deep venous thrombosis in a patient addicted to cocaine
Published in Medicina clinica (14-02-2020)Get more information
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10
Neutrophil dysregulation is pathogenic in idiopathic inflammatory myopathies
Published in JCI insight (13-02-2020)“…Idiopathic inflammatory myopathies (IIM) are characterized by muscle inflammation and weakness, myositis-specific autoantibodies (MSAs), and extramuscular…”
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11
Screening for late-onset Pompe disease in Internal Medicine departments in Spain
Published in Orphanet journal of rare diseases (31-08-2023)“…Abstract Background The screening of high-risk populations using dried blood spots (DBS) has allowed the rapid identification of patients with Pompe disease,…”
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Treatment of Myositis Associated With Immune Checkpoint Inhibitors
Published in Current treatment options in rheumatology (01-12-2023)“…Purpose of review To analyze and provide an update of the current therapeutic strategies on immune checkpoint inhibitor-related myositis, including forms with…”
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13
Focal myositis associated to radiculopathy
Published in Medicina clinica (23-10-2017)Get more information
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14
Infected False Aneurysm of the Aortic Arch After Endoscopic Transurethral Instillation of Bacillus Calmette-Guérin
Published in The Annals of thoracic surgery (01-08-2015)“…The case of an 81-year-old male operated on for an infected false aneurysm of the aortic arch by Mycobacterium bovis ( M. bovis ) is described. Arch…”
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15
Placental Mitochondrial Toxicity, Oxidative Stress, Apoptosis And Adverse Perinatal Outcomes In Hiv-Pregnancies Under Antiretroviral Treatment Containing Zidovudine
Published in Journal of acquired immune deficiency syndromes (1999) (01-08-2017)“…OBJECTIVE:To determine whether mitochondrial, oxidative and apoptotic abnormalities in placenta derived from Human Immunodeficiency Virus (HIV) and combined…”
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16
Gastrointestinal Involvement in Dermatomyositis
Published in Diagnostics (Basel) (11-05-2022)“…Dermatomyositis is a systemic vasculopathy mainly affecting skin, muscle and lung, but may affect the gastrointestinal tract. We aim to describe clinical…”
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17
Identification of Unique microRNA Profiles in Different Types of Idiopathic Inflammatory Myopathy
Published in Cells (Basel, Switzerland) (01-09-2023)“…Dermatomyositis (DM), antisynthetase syndrome (AS), immune-mediated necrotizing myopathy (IMNM), and inclusion body myositis (IBM) are four major types of…”
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18
Integrated Multi-Omics Analysis for Inferring Molecular Players in Inclusion Body Myositis
Published in Antioxidants (01-08-2023)“…Inclusion body myositis (IBM) is an acquired inflammatory myopathy affecting proximal and distal muscles that leads to weakness in patients over 50. It is…”
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Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report
Published in Journal of clinical medicine (01-12-2023)“…Phenylketonuria (PKU) is the most frequent of the congenital errors of amino acid (AA) metabolism worldwide. It leads to the accumulation of the essential AA…”
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20
Exhaustion of mitochondrial and autophagic reserve may contribute to the development of LRRK2 G2019S -Parkinson's disease
Published in Journal of translational medicine (08-06-2018)“…Mutations in leucine rich repeat kinase 2 (LRRK2) are the most common cause of familial Parkinson's disease (PD). Mitochondrial and autophagic dysfunction has…”
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