Search Results - "Kleinsteuber, K"

A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy by Goemans, Nathalie, Mercuri, Eugenio, Belousova, Elena, Komaki, Hirofumi, Dubrovsky, Alberto, McDonald, Craig M., Kraus, John E., Lourbakos, Afrodite, Lin, Zhengning, Campion, Giles, Wang, Susanne X., Campbell, Craig, Araujo, A., Bertini, E., Born, P., Cances, C., Chabrol, B., Chae, J.-H., Colomer Oferil, J., Comi, G.P., Cuisset, J.-M., D'Anjou, G., Desguerre, I., Erazo Torricelli, R., Escobar, R., Feder, D., Ferlini, A., Giugliani, R., Henricson, E., Herczegfalvi, A., Jong, Y.-J., Kimura, S., Kirschner, J.-B., Kleinsteuber, K., Kostera-Pruszczyk, A., Kudr, M., Mueller-Felber, W., Niks, E.H., Ogata, K., Palermo, C., Pane, M., Pascual, I., Pereon, Y., Raskin, S., Rasmussen, M., Reed, U., Schara, U., Selby, K., Sobreira, C., Takeshima, Y., Vilchez Padilla, J.J., Vita, G., Vondracek, P., Wiegand, G., Wilichowski, E.

“…•48-week phase 3 RCT evaluating efficacy and safety of drisapersen 6 mg/kg/week.•The pre-specified analyses did not meet statistical significance.•Due to…”
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Genome editing to treat mitochondrial DNA disorders by Avaria, M.A, Kleinsteuber, K

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Acute neurological care in north-east Germany with telemedicine support (ANNOTeM): protocol of a multi-center, controlled, open-label, two-arm intervention study by Weber, J E, Angermaier, A, Bollweg, K, Erdur, H, Ernst, S, Flöel, A, Gorski, C, Kandil, F I, Kinze, S, Kleinsteuber, K, Kurth, T, Schmehl, I, Theen, S, Endres, M, Audebert, H J

“…Both diagnosis and treatment of neurological emergencies require neurological expertise and are time-sensitive. The lack of fast neurological expertise in…”
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Pediatric Myasthenia Gravis (MG), not very different from adult presentation by AVARIA, M.A, Kleinsteuber, K, Heresi, C, Cortes, R

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Suppressor of cytokine signaling-3 is affected in T-cells from tuberculosis TB patients by Jacobsen, Marc, Repsilber, Dirk, Kleinsteuber, K, Gutschmidt, Andrea, Schommer-Leitner, S, Black, G, Walzl, G, Kaufmann, S H E

“…T-cells and T-cell-derived cytokines are crucial mediators of protection against Mycobacterium tuberculosis infection, but these factors are insufficient as…”
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Suppressor of cytokine signaling-3 is affected in T-cells from tuberculosisTB patients by Jacobsen, M., Repsilber, D., Kleinsteuber, K., Gutschmidt, A., Schommer-Leitner, S., Black, G., Walzl, G., Kaufmann, S.H.E.

“…T-cells and T-cell-derived cytokines are crucial mediators of protection against Mycobacterium tuberculosis infection, but these factors are insufficient as…”
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Clinical spectrum of chronic inflammatory demyelinating polyradiculoneuropathy (cidp) in a chilean pediatric cohort by Kleinsteuber, K, Avaria, M.A, Cortés, R, Vargas, C.P, Heresi, C, Castro, F, Varela, X, Ferrando, C, Tenembaum, S

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Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies by Dabaj, I., Ben Yaou, R., Bönnemann, C., Nascimento, A., Rutkowski, A., Erazo Torricelli, R., Muntoni, F., Lagrue, E., Dowling, J., Bushby, K., Casteglioni, C., Kleinsteuber, K., Lorenzo, M., Ishiyama, A., Sejersen, T., Gurgel-Giannetti, J., Monges, S., Bonne, G., Quijano-roy, S.

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Calpainopathy in Chile, first cases reported by Bevilacqua, J, Mathieu, Y, Krahn, M, Bartoli, M, Castiglioni, C, Kleinsteuber, K, Díaz, J, Puppo, F, Cerino, M, Courrier, S, Gorokhova, S, Miranda, N, Trangulao, A, González-Hormazábal, P, Avaria, M, Urtizberea, J, Caviedes, P, Jara, L, Levy, N

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P442 Charcot Marie Tooth disease type 4J and FIG4 compound heterozygous mutation by Suarez, B., Vargas, C., Jofré, J., Cortés, R., Kleinsteuber, K., Castiglioni, C.

“…CMT4J secondary to the FIG4 mutation is a very rare disease presented in 0,3% of hereditary neuropathies. FIG4 encodes a phosphatidylinositol phosphatase that…”
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P.1 - Calpainopathy in Chile, first cases reported by Bevilacqua, J., Mathieu, Y., Krahn, M., Bartoli, M., Castiglioni, C., Kleinsteuber, K., Díaz, J., Puppo, F., Cerino, M., Courrier, S., Gorokhova, S., Miranda, N., Trangulao, A., González-Hormazábal, P., Avaria, M., Urtizberea, J., Caviedes, P., Jara, L., Levy, N.

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P.137 - Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies by Dabaj, I., Ben Yaou, R., Bönnemann, C., Nascimento, A., Rutkowski, A., Erazo Torricelli, R., Muntoni, F., Lagrue, E., Dowling, J., Bushby, K., Casteglioni, C., Kleinsteuber, K., Lorenzo, M., Ishiyama, A., Sejersen, T., Gurgel-Giannetti, J., Monges, S., Bonne, G., Quijano-roy, S.

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Peripheral nerve conduction abnormalities in children exposed to alcohol in utero by de los Angeles Avaria, Marı́a, Mills, James L, Kleinsteuber, Karin, Aros, Sofia, Conley, Mary R, Cox, Christopher, Klebanoff, Mark, Cassorla, Fernando

“…We performed a longitudinal study of nerve conduction velocity to determine the effect of prenatal alcohol exposure on the peripheral nervous system. We…”
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Prolonged survival associated with spontaneous disappearance of untreated right atrial intracavitary metastasis by Atay, A E, Alpert, M A, Kleinsteuber, W K, Freelon, R L

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Delayed diagnosis of Duchenne muscular dystrophy in Chile by de los Angeles Avaria, M, Kleinsteuber, K, Herrera, L, Carvallo, P

“…Duchenne muscular dystrophy is the most frequent neuromuscular disease in children. To determine the causes of delayed diagnosis of the disease. The clinical…”
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New form of subcortical dementia: encephalopathy due to infection with human lymphotropic T virus (HTLV-1). Clinical case by Cartier, L, Gormaz, A, Kleinsteuber, K, Ramírez, E, Galeno, H

“…We report a 45 years old female with a HTLV-I associated myelopathy, followed up for 10 years who, five years ago, developed personality changes and…”
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Post exercise myalgias as presentation form of dystrophinopathy by Kleinsteuber, K, Rocco, P, Herrera, L, Vainzof, M, Birke, M E, Yáñez, M, Flandes, A, Zatz, M, de Carvallo, P, Avaria, M A

“…Cramps and myalgias are frequent presentations of many disorders whose diagnosis is generally difficult. Among the unusual causes stand the milder phenotypes…”
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Validation of a screening instrument for studying the prevalence of cerebrovascular diseases in the Chilean population by Lavados, P, Sacks, C, Alvarez, G, Araya, F, Feuerhacke, W, Monsalve, J, Kleinsteuber, K, Prina, L, Fernández, V, Hernández, J

“…We assessed a screening instrument, adapted from a model suggested by WHO, aimed to perform population studies on the prevalence of cerebrovascular disease in…”
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