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301. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

Author

Koeks, Z., Bladen, C.L., Salgado, D., van Zwet, E., Pogoryelova, O., McMacken, G., Monges, S., Foncuberta, M.E., Kekou, K., Kosma, K., Dawkins, H., Lamont, L., Bellgard, M.I., Roy, A.J., Chamova, T., Guergueltcheva, V., Chan, S., Korngut, L., Campbell, C., Dai, Y., Wang, J., Barišić, N., Brabec, P., Lahdetie, J., Walter, M.C., Schreiber-Katz, O., Karcagi, V., Garami, M., Herczegfalvi, A., Viswanathan, V., Bayat, F., Buccella, F., Ferlini, A., Kimura, E., van den Bergen, J.C., Rodrigues, M., Roxburgh, R., Lusakowska, A., Kostera-Pruszczyk, A., Santos, R., Neagu, E., Artemieva, S., Rasic, V.M., Vojinovic, D., Posada, M., Bloetzer, C., Klein, A., Díaz-Manera, J., Gallardo, E., Karaduman, A.A., Oznur, T., Topaloğlu, H., El Sherif, R., Stringer, A., Shatillo, A.V., Martin, A.S., Peay, H.L., Kirschner, J., Flanigan, K.M., Straub, V., Bushby, K., Beroud, C., Verschuuren, J.J., Lochmüller, H., Koeks, Z., Bladen, C.L., Salgado, D., van Zwet, E., Pogoryelova, O., McMacken, G., Monges, S., Foncuberta, M.E., Kekou, K., Kosma, K., Dawkins, H., Lamont, L., Bellgard, M.I., Roy, A.J., Chamova, T., Guergueltcheva, V., Chan, S., Korngut, L., Campbell, C., Dai, Y., Wang, J., Barišić, N., Brabec, P., Lahdetie, J., Walter, M.C., Schreiber-Katz, O., Karcagi, V., Garami, M., Herczegfalvi, A., Viswanathan, V., Bayat, F., Buccella, F., Ferlini, A., Kimura, E., van den Bergen, J.C., Rodrigues, M., Roxburgh, R., Lusakowska, A., Kostera-Pruszczyk, A., Santos, R., Neagu, E., Artemieva, S., Rasic, V.M., Vojinovic, D., Posada, M., Bloetzer, C., Klein, A., Díaz-Manera, J., Gallardo, E., Karaduman, A.A., Oznur, T., Topaloğlu, H., El Sherif, R., Stringer, A., Shatillo, A.V., Martin, A.S., Peay, H.L., Kirschner, J., Flanigan, K.M., Straub, V., Bushby, K., Beroud, C., Verschuuren, J.J., and Lochmüller, H.

Abstract

Background: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is required on clinical progression in the older DMD population. Objective: To determine the effects of corticosteroids on major clinical outcomes of DMD in a large multinational cohort of genetically confirmed DMD patients. Methods: In this cross-sectional study we analysed clinical data from 5345 genetically confirmed DMD patients from 31 countries held within the TREAT-NMD global DMD database. For analysis patients were categorised by corticosteroid background and further stratified by age. Results: Loss of ambulation in non-steroid treated patients was 10 years and in corticosteroid treated patients 13 years old (p = 0.0001). Corticosteroid treated patients were less likely to need scoliosis surgery (p < 0.001) or ventilatory support (p < 0.001) and there was a mild cardioprotective effect of corticosteroids in the patient population aged 20 years and older (p = 0.0035). Patients with a single deletion of exon 45 showed an increased survival in contrast to other single exon deletions. Conclusions: This study provides data on clinical outcomes of DMD across many healthcare settings and including a sizeable cohort of older patients. Our data confirm the benefits of corticosteroid treatment on ambulation, need for scoliosis surgery, ventilation and, to a lesser extent, cardiomyopathy. This study underlines the importance of data collection via patient registries and the critical role of multi-centre collaboration in the rare disease field.

Published
2017

302. Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial

Author

Bertini, E., Dessaud, E., Mercuri, Eugenio Maria, Muntoni, F., Kirschner, J., Reid, C., Lusakowska, A., Comi, G. P., Cuisset, J. -M., Abitbol, J. -L., Scherrer, B., Ducray, P. S., Buchbjerg, J., Vianna, E., van der Pol, W. L., Vuillerot, C., Blaettler, T., Fontoura, P., Andre, C., Bruno, C., Chabrol, B., Deconinck, N., Estournet, B., Fontaine-Carbonnel, S., Goemans, N., Gorni, K., Govoni, A., Guglieri, M., Lochmuller, H., Magri, F., Mayer, M., Muller-Felber, W., Rivier, F., Roper, H., Schara, U., Scoto, M., van den Berg, L., Vita, G., Walter, M. C., Mercuri E. (ORCID:0000-0002-9851-5365), Bertini, E., Dessaud, E., Mercuri, Eugenio Maria, Muntoni, F., Kirschner, J., Reid, C., Lusakowska, A., Comi, G. P., Cuisset, J. -M., Abitbol, J. -L., Scherrer, B., Ducray, P. S., Buchbjerg, J., Vianna, E., van der Pol, W. L., Vuillerot, C., Blaettler, T., Fontoura, P., Andre, C., Bruno, C., Chabrol, B., Deconinck, N., Estournet, B., Fontaine-Carbonnel, S., Goemans, N., Gorni, K., Govoni, A., Guglieri, M., Lochmuller, H., Magri, F., Mayer, M., Muller-Felber, W., Rivier, F., Roper, H., Schara, U., Scoto, M., van den Berg, L., Vita, G., Walter, M. C., and Mercuri E. (ORCID:0000-0002-9851-5365)

Abstract

Background Spinal muscular atrophy (SMA) is a progressive motor neuron disease causing loss of motor function and reduced life expectancy, for which limited treatment is available. We investigated the safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 SMA. Methods This randomised, double-blind, placebo-controlled, phase 2 study was done in 22 neuromuscular care centres in Belgium, France, Germany, Italy, Netherlands, Poland, and the UK. Safety and efficacy of olesoxime were assessed in patients aged 3–25 years with genetically confirmed type 2 or non-ambulatory type 3 SMA. A centralised, computerised randomisation process allocated patients (2:1 with stratification by SMA type and centre) to receive olesoxime (10 mg/kg per day) in an oral liquid suspension or placebo for 24 months. Patients, investigators assessing outcomes, and sponsor study personnel were masked to treatment assignment. The primary outcome measure was change from baseline compared with 24 months between the two treatment groups in functional domains 1 and 2 of the Motor Function Measure (MFM D1 + D2) assessed in the full analysis population. A shorter, 20-item version of the MFM, which was specifically adapted for young children, was used to assess patients younger than 6 years. Safety was assessed in the intention-to-treat population. The trial is registered with ClinicalTrials.gov, number NCT01302600. Findings The trial was done between Nov 18, 2010, and Oct 9, 2013. Of 198 patients screened, 165 were randomly assigned to olesoxime (n=108) or placebo (n=57). Five patients in the olesoxime group were not included in the primary outcome analysis because of an absence of post-baseline assessments. The change from baseline to month 24 on the primary outcome measure was 0·18 for olesoxime and −1·82 for placebo (treatment difference 2·00 points, 96% CI −0·25 to 4·25, p=0·0676). Olesoxime seemed to be safe and generally well tolerated, with an adverse event profile simila

Published
2017

303. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

McDonald, C. M., Campbell, C., Torricelli, R. E., Finkel, R. S., Flanigan, K. M., Goemans, N., Heydemann, P., Kaminska, A., Kirschner, J., Muntoni, F., Osorio, A. N., Schara, U., Sejersen, T., Shieh, P. B., Sweeney, H. L., Topaloglu, H., Tulinius, M., Vilchez, J. J., Voit, T., Wong, B., Elfring, G., Kroger, H., Luo, X., McIntosh, J., Ong, T., Riebling, P., Souza, M., Spiegel, R. J., Peltz, S. W., Mercuri, E., Alfano, L. N., Eagle, M., James, M. K., Lowes, L., Mayhew, A., Mazzone, E. S., Nelson, L., Rose, K. J., Abdel-Hamid, H. Z., Apkon, S. D., Barohn, R. J., Bertini, E., Bloetzer, C., de Vaud, L. C., Butterfield, R. J., Chabrol, B., Chae, J. -H., Jongno-gu, D. -R., Comi, G. P., Darras, B. T., Dastgir, J., Desguerre, I., Escobar, R. G., Finanger, E., Guglieri, M., Hughes, I., Iannaccone, S. T., Jones, K. J., Karachunski, P., Kudr, M., Lotze, T., Mah, J. K., Mathews, K., Nevo, Y., Parsons, J., Pereon, Y., de Queiroz Campos Araujo, A. P., Renfroe, J. B., de Resende, M. B. D., Ryan, M., Selby, K., Tennekoon, G., Vita, G., Mercuri E. (ORCID:0000-0002-9851-5365), McDonald, C. M., Campbell, C., Torricelli, R. E., Finkel, R. S., Flanigan, K. M., Goemans, N., Heydemann, P., Kaminska, A., Kirschner, J., Muntoni, F., Osorio, A. N., Schara, U., Sejersen, T., Shieh, P. B., Sweeney, H. L., Topaloglu, H., Tulinius, M., Vilchez, J. J., Voit, T., Wong, B., Elfring, G., Kroger, H., Luo, X., McIntosh, J., Ong, T., Riebling, P., Souza, M., Spiegel, R. J., Peltz, S. W., Mercuri, E., Alfano, L. N., Eagle, M., James, M. K., Lowes, L., Mayhew, A., Mazzone, E. S., Nelson, L., Rose, K. J., Abdel-Hamid, H. Z., Apkon, S. D., Barohn, R. J., Bertini, E., Bloetzer, C., de Vaud, L. C., Butterfield, R. J., Chabrol, B., Chae, J. -H., Jongno-gu, D. -R., Comi, G. P., Darras, B. T., Dastgir, J., Desguerre, I., Escobar, R. G., Finanger, E., Guglieri, M., Hughes, I., Iannaccone, S. T., Jones, K. J., Karachunski, P., Kudr, M., Lotze, T., Mah, J. K., Mathews, K., Nevo, Y., Parsons, J., Pereon, Y., de Queiroz Campos Araujo, A. P., Renfroe, J. B., de Resende, M. B. D., Ryan, M., Selby, K., Tennekoon, G., Vita, G., and Mercuri E. (ORCID:0000-0002-9851-5365)

Abstract

Background Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin protein production are being explored. We aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation DMD. Methods We did this multicentre, randomised, double-blind, placebo-controlled, phase 3 trial at 54 sites in 18 countries located in North America, Europe, the Asia-Pacific region, and Latin America. Boys aged 7–16 years with nonsense mutation DMD and a baseline 6-minute walk distance (6MWD) of 150 m or more and 80% or less of the predicted normal value for age and height were randomly assigned (1:1), via permuted block randomisation (block size of four) using an interactive voice-response or web-response system, to receive ataluren orally three times daily (40 mg/kg per day) or matching placebo. Randomisation was stratified by age (<9 years vs ≥9 years), duration of previous corticosteroid use (6 months to <12 months vs ≥12 months), and baseline 6MWD (<350 m vs ≥350 m). Patients, parents and caregivers, investigational site personnel, PTC Therapeutics employees, and all other study personnel were masked to group allocation until after database lock. The primary endpoint was change in 6MWD from baseline to week 48. We additionally did a prespecified subgroup analysis of the primary endpoint, based on baseline 6MWD, which is reflective of anticipated rates of disease progression over 1 year. The primary analysis was by intention to treat. This study is registered with ClinicalTrials.gov, number NCT01826487. Findings Between March 26, 2013, and Aug 26, 2014, we randomly assigned 230 patients to receive ataluren (n=115) or placebo (n=115); 228 patients comprised the intention-to-treat population. The least-squares mean change in 6MWD from baseline to week 48 was −47·7 m (SE 9·3

Published
2017

318. Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

Author

Buyse, G.M., Voit, Thomas, Schara, Ulrike, Straathof, C.S.M., D’Angelo, M.G., Bernert, G., Cuisset, J.-M., Finkel, Richard S., Goemans, N., Rummey, Christian, Leinonen, Mika, Mayer, Oscar H., Spagnolo, Paolo, Meier, Thomas, McDonald, Craig M., Knipp, F., Van den Hauwe, M., Doppler, V., Gidaro, T., Coopman, S., Lutz, S., Kirschner, J., Borell, S., Will, M., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D’Ambrosio, P., Taglia, A., Verschuuren, J.J.G.M., Vílchez Padilla, J.J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P.-Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Bönnemann, C., Henricson, E., Joyce, N., Apkon, S., Richardson, R.C., and Van den Hauwe, M

Subjects
0301 basic medicine, Male, Ubiquinone, Duchenne muscular dystrophy, Medizin, Pediatrics, Antioxidants, Pulmonary function testing, law.invention, 0302 clinical medicine, Randomized controlled trial, law, respiratory function, Idebenone, Respiratory function, Lung volumes, Muscular Dystrophy, Child, Genetics (clinical), Respiration, Perinatology and Child Health, Inspiratory flow, Pediatrics, Perinatology and Child Health, Pulmonary and Respiratory Medicine, 3. Good health, Respiratory Function Tests, Treatment Outcome, Neurology, Cardiology, Inspiratory Reserve Volume, inspiratory flow, Female, Original Article, medicine.drug, medicine.medical_specialty, Adolescent, Outcomes, Placebo, 03 medical and health sciences, FEV1/FVC ratio, Internal medicine, medicine, Humans, Treatment effect, In patient, business.industry, Original Articles, idebenone, Muscular Dystrophy, Duchenne, Duchenne, medicine.disease, Surgery, 030104 developmental biology, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Assessment of dynamic inspiratory function may provide valuable information about the degree and progression of pulmonary involvement in patients with Duchenne muscular dystrophy (DMD). The aims of this study were to characterize inspiratory function and to assess the efficacy of idebenone on this pulmonary function outcome in a large and well-characterized cohort of 10-18 year-old DMD patients not taking glucocorticoid steroids (GCs) enrolled in the phase 3 randomized controlled DELOS trial. We evaluated the effect of idebenone on the highest flow generated during an inspiratory FVC maneuver (maximum inspiratory flow; V'I,max(FVC)) and the ratio between the largest inspiratory flow during tidal breathing (tidal inspiratory flow; V'I,max(t)) and the V'I,max(FVC). The fraction of the maximum flow that is not used during tidal breathing has been termed inspiratory flow reserve (IFR). DMD patients in both treatment groups of DELOS (idebenone, n = 31; placebo: n = 33) had comparable and abnormally low V'I,max(FVC) at baseline. During the study period, V'I,max(FVC) further declined by -0.29 L/sec in patients on placebo (95%CI: -0.51, -0.08; P = 0.008 at week 52), whereas it remained stable in patients on idebenone (change from baseline to week 52: 0.01 L/sec; 95%CI: -0.22, 0.24; P = 0.950). The between-group difference favoring idebenone was 0.27 L/sec (P = 0.043) at week 26 and 0.30 L/sec (P = 0.061) at week 52. In addition, during the study period, IFR improved by 2.8% in patients receiving idebenone and worsened by -3.0% among patients on placebo (between-group difference 5.8% at week 52; P = 0.040). Although the clinical interpretation of these data is currently limited due to the scarcity of routine clinical practice experience with dynamic inspiratory function outcomes in DMD, these findings from a randomized controlled study nevertheless suggest that idebenone preserved inspiratory muscle function as assessed by V'I,max(FVC) and IFR in patients with DMD. Pediatr Pulmonol. © 2016 The Authors. Pediatric Pulmonology Published by Wiley Periodicals, Inc. ispartof: Pediatric Pulmonology vol:52 issue:4 pages:508-515 ispartof: location:United States status: published

Published
2016

319. Canted stripe phase evolution due to a spin reorientation transition in Fe films grown on Ag(001) vicinal surface

Author

Dąbrowski, M, Cinal, M, Przybylski, M, Chen, G, N'Diaye, AT, Schmid, AK, and Kirschner, J

Subjects
Condensed Matter::Materials Science, Engineering, Fluids & Plasmas, Physical Sciences, Chemical Sciences
Abstract

© 2016 American Physical Society. The evolution of the domain structure with the thickness of bcc Fe films deposited on the Ag(116) vicinal surface is studied by spin-polarized low-energy electron microscopy. We show that a spin reorientation transition proceeds via two mechanisms: continuous rotation of magnetization within the vertical plane perpendicular to the steps and discontinuous reorientation of the in-plane component of magnetization, leading to splitting of the domains. In contrast to previously investigated systems with stripe domains, we reveal that in the case of a vicinal ferromagnetic surface, the domain width increases while changing the orientation of the magnetization from a canted out-of-plane state into an in-plane state. A theoretical model developed in this work successfully describes the domain structure behavior observed in our experiments and can be equally applied to other ferromagnetic films grown on vicinal surfaces.

Published
2016
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320. Volume contribution to perpendicular anisotropy in [Fe.sub.0.5][Co.sub.0.5] alloy films on Pd(001), and Rh(001)

Author

Yildiz, F., Przybylski, M., and Kirschner, J.

Subjects
Cobalt alloys -- Magnetic properties, Cobalt alloys -- Electric properties, Iridium -- Magnetic properties, Iridium -- Electric properties, Iron alloys -- Magnetic properties, Iron alloys -- Structure, Iron alloys -- Electric properties, Magnetic fields -- Analysis, Palladium -- Magnetic properties, Palladium -- Electric properties, Rhodium -- Magnetic properties, Rhodium -- Electric properties, Physics
Abstract

In tetragonally distorted [Fe.sub.0.5][Co.sub.0.5] alloy films grown epitaxially on Pd(001), Ir(001) and Rh(001) substrates the crystal field has located the electronic states near the Fermi level ([E.sub.F]) with one being below [E.sub.F] and the other above [E.sub.F] with an energy separation smaller than in bulk nondistorted material. This has resulted in a strong uniaxial anisotropy and an easy magnetization axis perpendicular to the film plane up to the thickness up to which the films have remained tetragonally distorted.

Published
2009

321. Perpendicular anisotropy and oscillatory interlayer coupling in [Fe.sub.0.5][Co.sub.0.5]/Rh/[Fe.sub.0.5][Co.sub.0.5] bilayers on Rh(001)

Author

Yildiz, F., Przybylski, M., and Kirschner, J.

Subjects
Cobalt alloys -- Magnetic properties, Cobalt alloys -- Structure, Iron alloys -- Structure, Iron alloys -- Magnetic properties, Magnetization -- Analysis, Rhodium -- Magnetic properties, Physics
Abstract

Tetragonal distortion in [Fe.sub.0.5][Co.sub.0.5] alloy films grown epitaxially on Rh(001) substrates has resulted in an easy magnetization axis perpendicular to the film plane up to the thickness of 17 ML. The final covering of the [Fe.sub.0.5][Co.sub.0.5]/Rh/[Fe.sub.0.5][Co.sub.0.5]/Rh(001) structure with Rh has increased the switching field and the effect is described by a locally enhanced magnetization in the Rh/[Fe.sub.1-x][Co.sub.x] interfaces.

Published
2009

322. Growth and magnetic properties of Fe films epitaxially grown on Pd/Cu(001) by pulsed laser deposition

Author

Y. Lu, W.H. Wang, Przybylski, M., L.Yan, Barthel, J., Kirschner, J., and Y. Shi

Subjects
Ablation (Vaporization technology) -- Usage, Palladium -- Structure, Palladium -- Magnetic properties, Magneto-optical devices -- Research, Physics
Abstract

The structural and magnetic properties of Fe films epitaxially grown on Pd/Cu(001) by pulsed laser deposition are investigated. An enhanced magneto-optical response is related to the spin polarization of the Pd interlayer and the increased Curie temperature of the Fe/Pd/Cu(001) system is described by polarized Pd at low thickness.

Published
2007

324. Single-crystalline Fe/Cr/Fe/MgO/Fe magnetotunnel junctions grown on GaAs(001)

Author

Grabowski, J., Przybylski, M., Nyvlt, M., Zukrowski, J., Wulfhekel, W., and Kirschner, J.

Subjects
Physics
Abstract

Interdiffusion in the Fe/GaAs interface is analyzed using conversion electron Mossbauer spectroscopy. The findings show that an independent magnetization switching in the Fe electrodes is achieved by pinning the magnetization of the Fe-top electrode by antiferromagnetic coupling across a Cr spacer to another Fe film.

Published
2006

325. Magneto-optical additivity in ferromagnetic bilayers separated by nonferromagnetic spacers

Author

Nyvit, M., Przybylski, M., Grabowski, J., and Kirschner, J.

Subjects
Thin films, Multilayered -- Magnetic properties, Thin films, Multilayered -- Optical properties, Ferromagnetism -- Analysis, Physics
Abstract

Some ultrathin multilayer structures the proportionality of the longitudinal Kerr ellpticity signal to the magnetic film thickness does not take place. Instead thinner magnetic layers give even twice larger contributions than the thicker ones located a few monolayers deeper.

Published
2005

327. Injection site reactions as a consequence of long-term subcutaneous administration of drisapersen in Duchenne muscular dystrophy

Author

Niks, E., primary, Van Doorn, R., additional, Domingos, J., additional, Guglieri, M., additional, Pane, M., additional, Mauro, A., additional, Virgili, A., additional, Morren, M., additional, Martinez, A., additional, Nguyen, A., additional, Hooijmans, M., additional, De Groot, I., additional, Ferlini, A., additional, Tulinius, M., additional, Straub, V., additional, Muntoni, F., additional, Kirschner, J., additional, Mercuri, E., additional, and Goemans, N., additional

Published
2017
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328. Olesoxime in patients with type 2 or non-ambulatory type 3 Spinal muscular atrophy: a placebo-controlled phase 2 trial including a long-term, open-label follow-up study

Author

Muntoni, F., primary, Buchbjerg, J., additional, Bertini, E., additional, Dessaud, E., additional, Mercuri, E., additional, Kirschner, J., additional, Reid, C., additional, Lusakowska, A., additional, Comi, G., additional, Cuisset, J., additional, Abitbol, J., additional, Scherrer, B., additional, Vianna, E., additional, van der Pol, W., additional, Vuillerot, C., additional, Gorni, K., additional, and Fontoura, P., additional

Published
2017
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330. Clinical studies of RG7916 in patients with spinal muscular atrophy: SUNFISH part 1 study update

Author

Mercuri, E., primary, Kirschner, J., additional, Baranello, G., additional, Servais, L., additional, Goemans, N., additional, Pera, M., additional, Marquet, A., additional, Seabrook, T., additional, Sturm, S., additional, Armstrong, G., additional, Kletzl, H., additional, Czech, C., additional, Kraus, D., additional, Abdallah, H., additional, Mueller, L., additional, Gorni, K., additional, and Khwaja, O., additional

Published
2017
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331. A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy

Author

Reghan Foley, A., primary, Donkervoort, S., additional, Bolduc, V., additional, Hu, Y., additional, Cummings, B., additional, Lek, M., additional, Sarkozy, A., additional, Jimenez-Mallebrera, C., additional, Butterfield, R., additional, Lamande, S., additional, Kirschner, J., additional, Allamand, V., additional, Stojkovic, T., additional, Quijano-Roy, S., additional, Gualandi, F., additional, Ferlini, A., additional, Bertini, E., additional, MacArthur, D., additional, Muntoni, F., additional, and Bönnemann, C., additional

Published
2017
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333. Three dimensional boundary displacement due to stable ideal kink modes excited by external n = 2 magnetic perturbations

Author

Willensdorfer, M., primary, Strumberger, E., additional, Suttrop, W., additional, Dunne, M., additional, Fischer, R., additional, Birkenmeier, G., additional, Brida, D., additional, Cavedon, M., additional, Denk, S.S., additional, Igochine, V., additional, Giannone, L., additional, Kirk, A., additional, Kirschner, J., additional, Medvedeva, A., additional, Odstrčil, T., additional, and Ryan, D.A., additional

Published
2017
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335. Interim analysis of the phase 3 CHERISH study evaluating nusinersen in patients with later-onset spinal muscular atrophy (SMA): Primary and descriptive secondary endpoints

Author

Mercuri, E., primary, Finkel, R., additional, Kirschner, J., additional, Chiriboga, C.A., additional, Kuntz, N., additional, Darras, B., additional, Shieh, P.B., additional, Saito, K., additional, De Vivo, D.C., additional, Mazzone, E.S., additional, Montes, J., additional, Yang, Q., additional, Zhong, Z.J., additional, Gheuens, S., additional, Bennett, C.F., additional, Schneider, E., additional, and Farwell, W., additional

Published
2017
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336. 218th ENMC International Workshop

Author

Finkel, Richard S., primary, Sejersen, Thomas, additional, Mercuri, Eugenio, additional, Bertini, E., additional, Chen, K., additional, Crawford, T.O., additional, Dubowitz, V., additional, de Lemus, M., additional, Graham, R., additional, Hurst Davis, R., additional, Iannaccone, S., additional, Kirschner, J., additional, Main, M., additional, Mayer, O., additional, Mazzone, E., additional, Montes, J., additional, Muntoni, F., additional, Murphy, A., additional, Quijano-Roy, S., additional, Robertson, A., additional, Schroth, M., additional, Simonds, A., additional, Snyder, B., additional, Vitale, M., additional, Wittchen, A., additional, Woods, S., additional, Qian, Y., additional, and Wirth, B., additional

Published
2017
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338. Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

Author

Meier, Thomas, primary, Rummey, Christian, additional, Leinonen, Mika, additional, Spagnolo, Paolo, additional, Mayer, Oscar H., additional, Buyse, Gunnar M., additional, Bernert, G., additional, Knipp, F., additional, Buyse, G.M., additional, Goemans, N., additional, Van den Hauwe, M., additional, Voit, T., additional, Doppler, V., additional, Gidaro, T., additional, Cuisset, J.-M., additional, Coopman, S., additional, Schara, U., additional, Lutz, S., additional, Kirschner, J., additional, Borell, S., additional, Will, M., additional, D'Angelo, M.G., additional, Brighina, E., additional, Gandossini, S., additional, Gorni, K., additional, Falcier, E., additional, Politano, L., additional, D'Ambrosio, P., additional, Taglia, A., additional, Verschuuren, J.J.G.M., additional, Straathof, C.S.M., additional, Vílchez Padilla, J.J., additional, Muelas Gómez, N., additional, Sejersen, T., additional, Hovmöller, M., additional, Jeannet, P.-Y., additional, Bloetzer, C., additional, Iannaccone, S., additional, Castro, D., additional, Tennekoon, G., additional, Finkel, R., additional, Bönnemann, C., additional, McDonald, C., additional, Henricson, E., additional, Joyce, N., additional, Apkon, S., additional, and Richardson, R.C., additional

Published
2017
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341. A multinational, randomized, double-blind, placebo-controlled Phase 2 study to assess safety and efficacy of olesoxime in Type 2 or non-ambulatory Type 3 spinal muscular atrophy

Author

Buchbjerg, J., primary, Bertini, E., additional, Dessaud, E., additional, Mercuri, E., additional, Muntoni, F., additional, Kirschner, J., additional, Reid, C., additional, Lusakowska, A., additional, Comi, G.P., additional, Cuisset, J.-M., additional, Abitbol, J.-L., additional, Scherrer, B., additional, Vianna, E., additional, van der Pol, W.L., additional, Vuillerot, C., additional, Fontoura, P., additional, and Blaettler, T., additional

Published
2017
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342. Lebensqualität von Patienten mit idiopathischer Lungenfibrose: Daten aus dem deutschen INSIGHTS-IPF Register

Author

Kreuter, M, additional, Wirtz, H, additional, Prasse, A, additional, Klotsche, J, additional, Geier, S, additional, Kramps, T, additional, Wilkens, H, additional, Grohé, C, additional, Skowasch, D, additional, Huber, RM, additional, Neurohr, C, additional, Kirschner, J, additional, Koschel, D, additional, Meyer, FJ, additional, Andreas, S, additional, Gläser, S, additional, Claussen, M, additional, Held, M, additional, Ewert, R, additional, Randerath, WJ, additional, Bahmer, T, additional, Welte, T, additional, Koch, A, additional, Herth, FJF, additional, Pittrow, D, additional, Schwaiblmair, M, additional, and Behr, J, additional

Published
2017
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343. Klinischer Verlauf von Patienten mit Idiopathischer Lungenfibrose: aktuelle Daten aus dem INSIGHTS-IPF Register

Author

Behr, J, additional, Pittrow, D, additional, Kreuter, M, additional, Prasse, A, additional, Klotsche, J, additional, Koschel, D, additional, Andreas, S, additional, Neurohr, C, additional, Claussen, M, additional, Schwaiblmair, M, additional, Grohé, C, additional, Wilkens, H, additional, Skowasch, D, additional, Kirschner, J, additional, Meyer, FJ, additional, Ewert, R, additional, Held, M, additional, Huber, RM, additional, Bahmer, T, additional, Gläser, S, additional, Welte, T, additional, Randerath, WJ, additional, and Wirtz, H, additional

Published
2017
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347. Spin-polarized scanning tunneling spectroscopy study of Fe nanomagnets on W(001)

Author

Yamasaki, A., Wulfhekel, W., Hertel, R., Suga, S., and Kirschner, J.

Subjects
Tungsten -- Magnetic properties, Iron compounds -- Magnetic properties, Tunneling spectroscopy -- Usage, Physics
Abstract

Spin-polarized scanning tunneling spectroscopy (Sp-STS) is used for examining the magnetic states of self-organized Fe islands on W(001). Results indicate the presence of single-domain state below a thickness of 6 nm and a diameter of 120 nm in Fe islands.

Published
2004

348. Surface alloying and iron selenide formation in Fe/Bi2Se3(0001) observed by x-ray absorption fine structure experiments

Author

Polyakov, A., Meyerheim, Holger L., Roy, Sumalay, Ernst, Arthur, Vergniory, M., Zubizarreta, X., Otrokov, M. M., Chulkov, Eugene V., Kirschner, J., Saint Petersburg State University, Tomsk State University, and German Research Foundation

Abstract

Under the terms of the Creative Commons Attribution License 3.0 (CC-BY).-- et al., The atomic structure of ultrathin iron films deposited on the (0001) surface of the topological insulator Bi2Se3 is analyzed by surface x-ray absorption spectroscopy. Iron atoms deposited on a Bi2Se3 (0001) surface kept at 160 K substitute bismuth atoms within the first quintuple layer. Iron atoms are neighbored by six selenium atoms at a distance in the 2.4 Å range indicating substantial atomic relaxations. Mild annealing up to 520 K leads to the formation of α-FeSe, characterized by a local order extending up to the sixth shell (5.80 Å). Ab initio calculations predict a noncollinear magnetic ordering with a transition temperature of 3.5-10 K depending on the iron concentration and the number of the layers in which Fe is located., We acknowledge financial support from DFG through priority program SPP1666 (Topological Insulators). M.M.O. and E.V.C. thank the Tomsk State University Academic D. I. Mendeleev Fund Program (Research Grant No. 8.1.05.2015). Partial support by the Saint Petersburg State University Project No. 11.50.202.2015 is also acknowledged.

Published
2015

349. TPM3 Deletions Cause a Hypercontractile Congenital Muscle Stiffness Phenotype

Author

Donkervoort, S., Papadaki, M., de Winter, JM., Neu, MB., Kirschner, J., Bolduc, V., Yang, ML., Gibbons, MA., Hu, Y., Dastgir, J., Leach, ME., Rutkowski, A., Foley, AR., Krüger, M., Wartchow, EP., McNamara, E., Ong, R., Nowak, KJ., Laing, NG., Clarke, NF., Ottenheijm, CAC., Marston, SB., Bönnemann, CG., Physiology, ICaR - Heartfailure and pulmonary arterial hypertension, and British Heart Foundation

Subjects
Male, Neurology & Neurosurgery, Muscle Fibers, Skeletal, 1103 Clinical Sciences, Tropomyosin, Article, Phenotype, Muscular Diseases, Child, Preschool, Mutation, Humans, Exome, Female, Respiratory Insufficiency, 1109 Neurosciences, Muscle Contraction, Sequence Deletion
Abstract

Mutations in TPM3, encoding Tpm3.12, cause a clinically and histopathologically diverse group of myopathies characterized by muscle weakness. We report two patients with novel de novo Tpm3.12 single glutamic acid deletions at positions ΔE218 and ΔE224, resulting in a significant hypercontractile phenotype with congenital muscle stiffness, rather than weakness, and respiratory failure in one patient.The effect of the Tpm3.12 deletions on the contractile properties in dissected patient myofibers was measured. We used quantitative in vitro motility assay to measure Ca(2+) sensitivity of thin filaments reconstituted with recombinant Tpm3.12 ΔE218 and ΔE224.Contractility studies on permeabilized myofibers demonstrated reduced maximal active tension from both patients with increased Ca(2+) sensitivity and altered cross-bridge cycling kinetics in ΔE224 fibers. In vitro motility studies showed a two-fold increase in Ca(2+) sensitivity of the fraction of filaments motile and the filament sliding velocity concentrations for both mutations.These data indicate that Tpm3.12 deletions ΔE218 and ΔE224 result in increased Ca(2+) sensitivity of the troponin-tropomyosin complex, resulting in abnormally active interaction of the actin and myosin complex. Both mutations are located in the charged motifs of the actin-binding residues of tropomyosin 3, thus disrupting the electrostatic interactions that facilitate accurate tropomyosin binding with actin necessary to prevent the on-state. The mutations destabilize the off-state and result in excessively sensitized excitation-contraction coupling of the contractile apparatus. This work expands the phenotypic spectrum of TPM3-related disease and provides insights into the pathophysiological mechanisms of the actin-tropomyosin complex.

Published
2015
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350. The TREAT-NMD DMD global database: Analysis of more than 7,000 duchenne muscular dystrophy mutations

Author

Bladen, C.L. Salgado, D. Monges, S. Foncuberta, M.E. Kekou, K. Kosma, K. Dawkins, H. Lamont, L. Roy, A.J. Chamova, T. Guergueltcheva, V. Chan, S. Korngut, L. Campbell, C. Dai, Y. Wang, J. Barišić, N. Brabec, P. Lahdetie, J. Walter, M.C. Schreiber-Katz, O. Karcagi, V. Garami, M. Viswanathan, V. Bayat, F. Buccella, F. Kimura, E. Koeks, Z. van den Bergen, J.C. Rodrigues, M. Roxburgh, R. Lusakowska, A. Kostera-Pruszczyk, A. Zimowski, J. Santos, R. Neagu, E. Artemieva, S. Rasic, V.M. Vojinovic, D. Posada, M. Bloetzer, C. Jeannet, P.-Y. Joncourt, F. Díaz-Manera, J. Gallardo, E. Karaduman, A.A. Topaloğlu, H. El Sherif, R. Stringer, A. Shatillo, A.V. Martin, A.S. Peay, H.L. Bellgard, M.I. Kirschner, J. Flanigan, K.M. Straub, V. Bushby, K. Verschuuren, J. Aartsma-Rus, A. Béroud, C. Lochmüller, H.

Abstract

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations). © 2015 The Authors.

Published
2015

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