Search Results - "Pellissier, J."

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype by Rouzier, Cécile, Bannwarth, Sylvie, Chaussenot, Annabelle, Chevrollier, Arnaud, Verschueren, Annie, Bonello-Palot, Nathalie, Fragaki, Konstantina, Cano, Aline, Pouget, Jean, Pellissier, Jean-François, Procaccio, Vincent, Chabrol, Brigitte, Paquis-Flucklinger, Véronique

“…MFN2 and OPA1 genes encode two dynamin-like GTPase proteins involved in the fusion of the mitochondrial membrane. They have been associated with…”
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Macrophagic myofasciitis lesions assess long-term persistence of vaccine-derived aluminium hydroxide in muscle by Gherardi, R. K., Coquet, M., Cherin, P., Belec, L., Moretto, P., Dreyfus, P. A., Pellissier, J.-F., Chariot, P., Authier, F.-J.

“…Macrophagic myofasciitis (MMF) is an emerging condition of unknown cause, detected in patients with diffuse arthromyalgias and fatigue, and characterized by…”
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Diagnostic evaluation of clinically normal subjects with chronic hyperCKemia by FERNANDEZ, C, DE PAULA, A. Maues, FIGARELLA-BRANGER, D, KRAHN, M, GIORGI, R, CHABROL, B, MONFORT, M.-F, POUGET, J, PELLISSIER, J.-F

“…The authors analyzed muscle biopsy specimens of 104 patients with creatine kinase activity greater than 500 UI/L (normal 10 to 170 UI/L) without signs of…”
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Q-TWiST analysis to assess benefit-risk of pembrolizumab in patients with PD-L1-positive advanced or metastatic NSCLC by Huang, M., Pietanza, M.C., Samkari, A., Pellissier, J., Burke, T., Chandwani, S., Kong, F., Pickard, A.S.

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The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein by Rouzier, C, Le Guédard-Méreuze, S, Fragaki, K, Serre, V, Miro, J, Tuffery-Giraud, S, Chaussenot, A, Bannwarth, S, Caruba, C, Ostergaard, E, Pellissier, J-F, Richelme, C, Espil, C, Chabrol, B, Paquis-Flucklinger, V

“…Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the…”
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Pituicytomas, a mis-diagnosed benign tumor of the neurohypophysis: report of three cases by FIGARELLA-BRANGER, D, DUFOUR, H, FERNANDEZ, C, BOUVIER-LABIT, C, GRISOLI, F, PELLISSIER, J. F

“…Pituicytoma is a rare benign primary tumor of the neurohypophysis, occurring in the sellar and suprasellar spaces. We report here three new cases with…”
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Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease by Fontés, Michel, Passage, Edith, Norreel, Jean Chrétien, Noack-Fraissignes, Pauline, Sanguedolce, Véronique, Pizant, Josette, Thirion, Xavier, Robaglia-Schlupp, Andrée, Pellissier, Jean François

“…Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy, affecting 1 in 2,500 people. The only treatment currently available is…”
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A Long‐Term Watershed‐Scale Partnership to Restore Bull Trout Across Federal, State, Private, and Historic Tribal Land Near Crater Lake National Park, Oregon by Buktenica, M. W., Hering, D. K., Scott, N., Lambert, C., McKee, J., Maletis, E., Pellissier, J., Tinniswood, W., Banish, N.

“…We review a 28‐year project to restore a Bull Trout Salvelinus confluentus population in a small Oregon watershed. Restoration evolved from eradication and…”
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CCR2A and CCR2B, the two isoforms of the monocyte chemoattractant protein-1 receptor are up-regulated and expressed by different cell subsets in idiopathic inflammatory myopathies by BARTOLI, C, CIVATTE, M, PELLISSIER, J. F, FIGARELLA-BRANGER, D

“…The idiopathic inflammatory myopathies (IIM), including dermatomyositis (DM), polymyosititis (PM) and inclusion body myositis (IBM), are a group of autoimmune…”
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Macrophagic myofasciitis: an emerging entity by Gherardi, RK, Coquet, M, Chérin, P, Authier, F-J, Laforêt, P, Bélec, L, Figarella-Branger, D, Mussini, J-M, Pellissier, J-F, Fardeau, M

“…An unusual inflammatory myopathy characterised by an infiltration of non-epithelioid histiocytic cells has been recorded with increasing frequency in the past…”
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Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2 by Vihola, A, Bassez, G, Meola, G, Zhang, S, Haapasalo, H, Paetau, A, Mancinelli, E, Rouche, A, Hogrel, J Y, Laforêt, P, Maisonobe, T, Pellissier, J F, Krahe, R, Eymard, B, Udd, B

“…Muscle biopsy findings in DM2 have been reported to be similar to those in DM1. The authors used myosin heavy chain immunohistochemistry and enzyme…”
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PMP22 overexpression causes dysmyelination in mice by Robaglia‐Schlupp, A., Pizant, J., Norreel, J.‐C., Passage, E., Sabéran‐Djoneidi, D., Ansaldi, J.‐L., Vinay, L., Figarella‐Branger, D., Lévy, N., Clarac, F., Cau, P., Pellissier, J.‐F., Fontés, M.

“…Charcot–Marie–Tooth (CMT) disease is the most frequent hereditary peripheral neuropathy in humans. Its prevalence is about one in 2500. A subform, CMT1A, is…”
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Prognostic factors in intracranial ependymomas in children by FIGARELLA-BRANGER, Dominique, CIVATTE, Muriel, BOUVIER-LABIT, Corine, GOUVERNET, Joany, GAMBARELLI, Danielle, GENTET, Jean-Claude, LENA, Gabriel, CHOUX, Maurice, PELLISSIER, J. F

“…The occurrence of intracranial ependymomas in children is relatively infrequent, and their prognostic factors are still controversial, especially regarding…”
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The Lipid Phosphatase Myotubularin Is Essential for Skeletal Muscle Maintenance but Not for Myogenesis in Mice by Buj-Bello, Anna, Laugel, Vincent, Messaddeq, Nadia, Zahreddine, Hala, Laporte, Jocelyn, Pellissier, Jean-François, Mandel, Jean-Louis

“…Myotubularin is a ubiquitously expressed phosphatase that acts on phosphatidylinositol 3-monophosphate [PI(3)P], a lipid implicated in intracellular vesicle…”
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Class I MHC detection as a diagnostic tool in noninformative muscle biopsies of patients suffering from dermatomyositis (DM) by Civatte, M., Schleinitz, N., Krammer, P., Fernandez, C., Guis, S., Veit, V., Pouget, J., Harlé, J.-R., Pellissier, J.-F., Figarella-Branger, D.

“…This study is to further confirm the diagnostic value of class I MHC detection in muscle biopsies of adult patients presenting with clinical features of…”
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Expression of the β chemokines CCL3, CCL4, CCL5 and their receptors in idiopathic inflammatory myopathies by Civatte, M., Bartoli, C., Schleinitz, N., Chetaille, B., Pellissier, J. F., Figarella-Branger, D.

“…The idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases characterized by chronic lymphocytic and macrophagic infiltration in muscle…”
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Cost effectiveness of anterior cruciate ligament reconstruction in young adults by Gottlob, C A, Baker, Jr, C L, Pellissier, J M, Colvin, L

“…The cost effectiveness of ligament reconstruction for acute anterior cruciate ligament tears in young adults was compared with the cost effectiveness of…”
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Cost of treatment in patients with metastatic soft tissue sarcoma who respond favourably to chemotherpy. The SArcoma treatment and Burden of Illness in North America and Europe (SABINE) study by Jönsson, L., Justo, N., Musayev, A., Krishna, A., Burke, T., Pellissier, J., Judson, I., Staddon, A., Blay, J.Y.

“…Treatment of metastatic soft tissue sarcoma (mSTS) commonly includes multiple lines of chemotherapy, until a decline in performance status precludes further…”
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Construction of a Mouse Model of Charcot-Marie-Tooth Disease Type 1A by Pronuclear Injection of Human YAC DNA by Huxley, C., Passage, E., Manson, A., Putzu, G., Figarella-Branger, D., Pellissier, J. F., Fontés, M.

“…Construction of animal models of human inherited diseases is particularly important for testing gene therapy approaches. Towards this end, we constructed a…”
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Correlation Between Varying Levels of PMP22 Expression and the Degree of Demyelination and Reduction in Nerve Conduction Velocity in Transgenic Mice by Huxley, C., Passage, E., Robertson, A. M., Youl, B., Huston, S., Manson, A., Sabéran-Djoniedi, D., Figarella-Branger, D., Pellissier, J. F., Thomas, P. K., Fontés, M.

“…Charcot-Marie-Tooth disease type 1A is most commonly caused by a duplication of a 1.5 Mb region of chromosome 17 which includes the peripheral myelin protein…”
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