Search Results - "Stojkovic, T"

Hereditary neuropathies: An update by Stojkovic, T.

“…Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average…”
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Rapidly progressive myopathy: unveiling light chain amyloidosis as an initial manifestation of multiple myeloma: a case report and literature review by Kaminskiene, P., Stojkovic, T., Roos-Weil, D., Reimbold, P., Chanut, A., Lacene, E., Evangelista, T.

“…•Multiple myeloma (MM) and AL amyloidosis are two closely related conditions that can occur concurrently in some patients.•Amyloid myopathy is a rare…”
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Long-term observational study of sporadic inclusion body myositis by Benveniste, Olivier, Guiguet, Marguerite, Freebody, Jane, Dubourg, Odile, Squier, Waney, Maisonobe, Thierry, Stojkovic, Tanya, Leite, Maria Isabel, Allenbach, Yves, Herson, Serge, Brady, Stefen, Eymard, Bruno, Hilton-Jones, David

“…We describe a long-term observational study of a large cohort of patients with sporadic inclusion body myositis and propose a sporadic inclusion body myositis…”
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8-Iso-prostaglandin F2α as a potential biomarker in patients with unipolar and bipolar depression by Lačković, M, Stojković, T, Pantović Stefanović, M, Velimirović Bogosavljević, M, Nikolić, T, Tomanić, M, Nestorović, M, Debeljak Martačić, J, Petronijević, N

“…Previous studies have shown that the disturbance of redox homeostasis plays a role in the pathogenesis of mood disorders. It is currently unclear whether…”
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Plasma concentrations of IL-8, IFN-γ and IL-1β in schizophrenia patients with subgroup analysis of first episode drug naïve patients by Markovic, M, Stasevic, M, Stojkovic, M, Bogosavljević, M Velimirović, Stojkovic, T, Zivkovic, M, Karlicic, I Stasevic, Nikolic, T, Poznanovic, S Totic, Petronijevic, N

“…IntroductionIncreased plasma concentrations of proinflammatory cytokines are found in chronic schizophrenia patients, patients with first episode and in…”
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Antibodies to clustered acetylcholine receptor: expanding the phenotype by Devic, P., Petiot, P., Simonet, T., Stojkovic, T., Delmont, E., Franques, J., Magot, A., Vial, C., Lagrange, E., Nicot, A. S., Risson, V., Eymard, B., Schaeffer, L.

“…Background and purpose To provide a detailed phenotypical description of seronegative patients with generalized myasthenia gravis and antibodies to clustered…”
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Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network by Solé, G., Salort-Campana, E., Pereon, Y., Stojkovic, T., Wahbi, K., Cintas, P., Adams, D., Laforet, P., Tiffreau, V., Desguerre, I., Pisella, L.I., Molon, A., Attarian, S.

“…In France, the epidemic phase of COVID-19 caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) began in February 2020 and resulted in the…”
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Decreased plasma concentrations of kynurenine and kynurenic acid in schizophrenia patients by Markovic, M., Stasevic, M., Ristic, S., Stojkovic, M., Velimirović Bogosavljević, M., Stojkovic, T., Zivkovic, M., Stasevic Karlicic, I., Totic Poznanovic, S., Nikolic, T., Petronijevic, N.

“…Introduction The kynurenine pathway of tryptophan catabolism has come into the spotlight of schizophrenia research since its catabolites exert neuroactive…”
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Prediction of long‐term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome by Fayssoil, A., Laforêt, P., Bougouin, W., Jardel, C., Lombès, A., Bécane, H. M., Berber, N., Stojkovic, T., Béhin, A., Eymard, B., Duboc, D., Wahbi, K.

“…Background and purpose Our aim was to determine the prognostic value of urine and blood heteroplasmy in patients with the m.3243A>G mutation. Methods Adults…”
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Strategy for genetic analysis in hereditary neuropathy by Masingue, M., Fernández-Eulate, G., Debs, R., Tard, C., Labeyrie, C., Leonard-Louis, S., Dhaenens, C.-M., Masson, M.A., Latour, P., Stojkovic, T.

“…Inherited neuropathies are a heterogeneous group of slowly progressive disorders affecting either motor, sensory, and/or autonomic nerves. Peripheral…”
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Apathy and depression in Parkinson’s disease: The Belgrade PD study report by Ziropadja, Lj, Stefanova, E, Petrovic, M, Stojkovic, T, Kostic, V.S

“…Abstract Apathy and depression are among the most common psychiatric and behavioral disorders associated with Parkinson’s disease (PD). The objective of this…”
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Hereditary sensory and motor neuropathy and hereditary sensory and autonomic neuropathies: recent advances by Stojkovic, T

“…This review summarizes the recent genetic advances in hereditary sensorimotor neuropathy also called Charcot-Marie-Tooth disease. The different new genes…”
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Novel CAPN3 variant associated with an autosomal dominant calpainopathy by Cerino, M., Campana‐Salort, E., Salvi, A., Cintas, P., Renard, D., Juntas Morales, R., Tard, C., Leturcq, F., Stojkovic, T., Bonello‐Palot, N., Gorokhova, S., Mortreux, J., Maues De Paula, A., Lévy, N., Pouget, J., Cossée, M., Bartoli, M., Krahn, M., Attarian, S.

“…Aims The most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this…”
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Neuropathy in lymphoma: a relationship between the pattern of neuropathy, type of lymphoma and prognosis? by Viala, K, Béhin, A, Maisonobe, T, Léger, J-M, Stojkovic, T, Davi, F, Leblond, V, Bouche, P

“…Background:Neuropathies associated with lymphoma (NAL) are rare and present a great clinical heterogeneity, making them difficult to diagnose and worsening…”
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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families by Jonson, P. H., Palmio, J., Johari, M., Penttilä, S., Evilä, A., Nelson, I., Bonne, G., Wiart, N., Meyer, V., Boland, A., Deleuze, J.‐F., Masson, C., Stojkovic, T., Chapon, F., Romero, N. B., Solé, G., Ferrer, X., Ferreiro, A., Hackman, P., Richard, I., Udd, B.

“…Background and purpose The aim was to determine the genetic background of unknown muscular dystrophy in five French families. Methods Twelve patients with limb…”
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Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution by Deconinck, N, Richard, P, Allamand, V, Behin, A, Lafôret, P, Ferreiro, A, de Becdelievre, A, Ledeuil, C, Gartioux, C, Nelson, I, Carlier, R Y, Carlier, P, Wahbi, K, Romero, N, Zabot, M T, Bouhour, F, Tiffreau, V, Lacour, A, Eymard, B, Stojkovic, T

“…ObjectiveMutations in one of the 3 genes encoding collagen VI (COLVI) are responsible for a group of heterogeneous phenotypes of which Bethlem myopathy (BM)…”
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Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene by Svahn, J., Laforêt, P., Vial, C., Streichenberger, N., Romero, N., Bouchet-Séraphin, C., Bruneel, A., Dupré, T., Seta, N., Menassa, R., Michel-Calemard, L., Stojkovic, T.

“…•Dolichol-P-mannose (DPM) synthase plays a role in N-glycosylation and O-mannosylation.•DPM synthase is essential for alpha-dystroglycan O-mannosylation.•Two…”
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Dilated cardiomyopathy in patients with mutations in anoctamin 5 by Wahbi, K, Béhin, A, Bécane, H.M, Leturcq, F, Cossée, M, Laforêt, P, Stojkovic, T, Carlier, P, Toussaint, M, Gaxotte, V, Cluzel, P, Eymard, B, Duboc, D

“…Abstract Background Homozygous mutations in ANO5 , a gene encoding anoctamin 5, a putative calcium-activated chloride channel, have recently been reported in…”
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Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations by Wargon, I, Richard, P, Kuntzer, T, Sternberg, D, Nafissi, S, Gaudon, K, Lebail, A, Bauche, S, Hantaï, D, Fournier, E, Eymard, B, Stojkovic, T

“…Abstract Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular…”
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Demyelinating Charcot–Marie–Tooth neuropathy associated with FBLN5 mutations by Safka Brozkova, D., Stojkovic, T., Haberlová, J., Mazanec, R., Windhager, R., Fernandes Rosenegger, P., Hacker, S., Züchner, S., Kochański, A., Leonard‐Louis, S., Francou, B., Latour, P., Senderek, J., Seeman, P., Auer‐Grumbach, M.

“…Background and purpose Charcot–Marie–Tooth disease type 1 (CMT1) is a group of autosomal dominantly inherited demyelinating sensorimotor neuropathies. Symptoms…”
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