Search Results - "de Bleecker, J"

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands by De Bleecker, Jan L, De Paepe, Boel, Aronica, Eleonora, de Visser, Marianne, Amato, Anthony, Benveniste, Olivier, De Bleecker, Jan, de Boer, Onno, Dimachkie, Mazen, Gherardi, Romain, Goebel, Hans Hilmar, Hilton-Jones, David, Holton, Janice, Lundberg, Ingrid E, Mammen, Andrew, Mastaglia, Frank, Nishino, Ichizo, Rushing, Elisabeth, Daa Schroder, Henrik, Selcen, Duygu, Stenzel, Werner

“…Highlights • The heterogeneous group of idiopathic inflammatory myopathies (IM) needs international consensus on myopathologic classification. • Experts agreed…”
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Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures by Vanherpe, P, Fieuws, S, D'Hondt, A, Bleyenheuft, C, Demaerel, P, De Bleecker, J, Van den Bergh, P, Baets, J, Remiche, G, Verhoeven, K, Delstanche, S, Toussaint, M, Buyse, B, Van Damme, P, Depuydt, C E, Claeys, K G

“…Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory…”
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A case of delayed oxaliplatin-induced pseudo-obstruction: an atypical presentation of oxaliplatin neurotoxicity by Vandamme, M., Pauwels, W., Bleecker, J. De

“…Chemotherapy-induced neurotoxicity is a serious complication of cancer treatment. Oxaliplatin, a third-generation platinum drug, has become one of the…”
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The genetic causes of basal ganglia calcification, dementia, and bone cysts DAP12 and TREM2 by KLÜNEMANN, H. H, RIDHA, B. H, PELTONEN, L, PALONEVA, J, MAGY, L, WHERRETT, J. R, HEMELSOET, D. M, KEEN, R. W, DE BLEECKER, J. L, ROSSOR, M. N, MARIENHAGEN, J, KLEIN, H. E

“…Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), or Nasu-Hakola disease, is a presenile dementia associated with loss of…”
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Long lasting trigeminal neuropathy, limbic encephalitis and abdominal ganglionitis without primary cancer: An atypical case of Hu-antibody syndrome by De Schamphelaere, E., Sieben, A., Heyndrickx, S., Lammens, M., Geboes, K., De Bleecker, J.L.

“…•Rather uncommon, this article shows an anti-Hu syndrome with trigeminal involvement as the first presentation.•Autonomic symptoms are less frequent during the…”
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Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C by Dermaut, B, Seneca, S, Dom, L, Smets, K, Ceulemans, L, Smet, J, De Paepe, B, Tousseyn, S, Weckhuysen, S, Gewillig, M, Pals, P, Parizel, P, De Bleecker, J L, Boon, P, De Meirleir, L, De Jonghe, P, Van Coster, R, Van Paesschen, W, Santens, P

“…Background:m.14487T>C, a missense mutation (p.M63V) affecting the ND6 subunit of complex I of the mitochondrial respiratory chain, has been reported in…”
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The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter by Gijselinck, I, Van Mossevelde, S, van der Zee, J, Sieben, A, Engelborghs, S, De Bleecker, J, Ivanoiu, A, Deryck, O, Edbauer, D, Zhang, M, Heeman, B, Bäumer, V, Van den Broeck, M, Mattheijssens, M, Peeters, K, Rogaeva, E, De Jonghe, P, Cras, P, Martin, J-J, de Deyn, P P, Cruts, M, Van Broeckhoven, C

“…Pathological expansion of a G 4 C 2 repeat, located in the 5' regulatory region of C9orf72 , is the most common genetic cause of frontotemporal lobar…”
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Response to: The use of guidelines to assess the risk of malignant hyperthermia in individuals with a RYR1 variant by Herdewyn, S., De Bleecker, J., Janssens, L., Symoens, S., Milazzo, M., De Puydt, J.

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Open-label trial of anti-TNF-alpha in dermato- and polymyositis treated concomitantly with methotrexate by Hengstman, G J D, De Bleecker, J L, Feist, E, Vissing, J, Denton, C P, Manoussakis, M N, Slott Jensen, H, van Engelen, B G M, van den Hoogen, F H J

“…To determine the efficacy of infliximab combined with weekly methotrexate in drug-naive recent-onset dermatomyositis and polymyositis. A multicentre open-label…”
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Role of tumour necrosis factor-α receptor p75 in cigarette smoke-induced pulmonary inflammation and emphysema by D'HULST, A. I, BRACKE, K. R, MAES, T, DE BLEECKER, J. L, PAUWELS, R. A, JOOS, G. F, BRUSSELLE, G. G

“…Chronic obstructive pulmonary disease (COPD) is characterised by a local pulmonary inflammatory response to respiratory pollutants and by systemic…”
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Post-traumatic spontaneous recurrent hypothermia: a variant of Shapiro's syndrome by Hemelsoet, D. M., De Bleecker, J. L.

“…A 49‐year‐old man presented with episodic hypothermia many years after sustaining a contusional brain injury. Brain magnetic resonance imaging demonstrated the…”
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Dermatomyositis and polymyositis: new treatment targets on the horizon by HAK, A. E, DE PAEPE, B, DE BLEECKER, J. L, TAK, P.-P, DE VISSER, M

“…Polymyositis (PM) and dermatomyositis (DM) are rare idiopathic inflammatory myopathies (IIM) with a presumed autoimmune pathogenesis. Typical features are…”
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Comprehensive analysis of TTN coding regions in myopathic patients: Challenges and opportunities by Savarese, M, De Bleecker, J, Santoro, L, Comi, G, Mercuri, E, Mora, M, Hackman, P, Udd, B, Nigro, V

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Database crossing allows better understanding of neuromuscular disorders epidemiology: The Belgian example by Bleyenheuft, C, Van Damme, P, Goemans, N, De Bleecker, J, Van Coster, R, De Jonghe, P, Beysen, D, Van den Bergh, P, Christiaens, F, Maertens de Noordhout, A, Haan, J, De Meirleir, L, Remiche, G, Deconinck, N, Depuijdt, E, Servais, L

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Immunocytochemical study of CD45 T cell isoforms in inflammatory myopathies by De Bleecker, JL, Engel, AG

“…The CD45RO and CD45RA antigens subdivide the CD8+ and the CD4+ T cells into primed memory cells and unprimed virgin T cells, respectively. To assess the…”
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Necrotizing myopathy as a paraneoplastic syndrome associated with renal cell carcinoma by Naert, E, De Bleecker, J L, Lumen, N, Rottey, S

“…We report a 49-year-old patient with necrotizing myopathy and a right renal mass. After laparoscopic radical nephrectomy, a remission of myopathy was seen…”
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Inflammatory- and NaCl-induced expression of NFAT5 in muscle cells point to common stress response mechanisms by Herbelet, S, Schmidt, K, Zschuntzsch, J, Nys, E, Weynants, L, De Paepe, B, De Wever, O, De Bleecker, J, Schmidt, J

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Melatonin and painful gynecomastia by DE BLEECKER, J. L, LAMONT, B. H, VERSTRAETE, A. G, SCHELFHOUT, V. J

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G.P.3 by van den Bergen, J.C, Wokke, B.H.A, van Damme, P, van der Kooi, A.J, De Bleecker, J, De Jonghe, P, Verschuuren, J.J

“…Becker muscular dystrophy (BMD) is characterized by progressive muscle weakness, with a large variation of disease progression. To investigate possible causes…”
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Myofibrillar Myopathy with Abnormal Foci of Desmin Positivity. II. Immunocytochemical Analysis Reveals Accumulation of Multiple Other Proteins by De Bleecker, Jan L, Engel, Andrew G, Ertl, Birgit B

“…The two major types of lesions in myofibrillar myopathy consist of hyaline spheroidal structures composed of compacted myofibrillar residues, and nonhyaline…”
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