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A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.

Molecular genetics and metabolism

Wijburg FA, Whitley CB, Muenzer J, Gasperini S, Del Toro M, Muschol N, Cleary M, Sevin C, Shapiro E, Alexanderian D.
PMID: 34247932
Mol Genet Metab. 2021 Sep-Oct;134(1):175-181. doi: 10.1016/j.ymgme.2021.07.001. Epub 2021 Jul 07.

Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a rare autosomal recessive lysosomal disorder characterized by deficient heparan-N-sulfatase (HNS) activity, and subsequent accumulation of heparan sulfate, especially in the central nervous system. The disease is associated with progressive neurodegeneration...

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Wijburg FA, Whitley CB, Muenzer J, et al. A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A. Mol Genet Metab. 2021;134(1):175-181doi: 10.1016/j.ymgme.2021.07.001.
Wijburg, F. A., Whitley, C. B., Muenzer, J., Gasperini, S., Del Toro, M., Muschol, N., Cleary, M., Sevin, C., Shapiro, E., & Alexanderian, D. (2021). A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A. Molecular genetics and metabolism, 134(1), 175-181. https://doi.org/10.1016/j.ymgme.2021.07.001
Wijburg, Frits A, et al. "A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A." Molecular genetics and metabolism vol. 134,1 (2021): 175-181. doi: https://doi.org/10.1016/j.ymgme.2021.07.001
Wijburg FA, Whitley CB, Muenzer J, Gasperini S, Del Toro M, Muschol N, Cleary M, Sevin C, Shapiro E, Alexanderian D. A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A. Mol Genet Metab. 2021 Sep-Oct;134(1):175-181. doi: 10.1016/j.ymgme.2021.07.001. Epub 2021 Jul 07. PMID: 34247932.
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An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.

Molecular genetics and metabolism

Wijburg FA, Aiach K, Chakrapani A, Eisengart JB, Giugliani R, Héron B, Muschol N, O'Neill C, Olivier S, Parker S.
PMID: 34991944
Mol Genet Metab. 2021 Dec 10; doi: 10.1016/j.ymgme.2021.12.002. Epub 2021 Dec 10.

Mucopolysaccharidosis type IIIA (MPS IIIA, also known as Sanfilippo syndrome) is a rare genetic lysosomal storage disease characterized by early and progressive neurodegeneration resulting in a rapid decline in cognitive function affecting speech and language, adaptive behavior, and motor...

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Wijburg FA, Aiach K, Chakrapani A, et al. An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA. Mol Genet Metab. 2021;doi: 10.1016/j.ymgme.2021.12.002.
Wijburg, F. A., Aiach, K., Chakrapani, A., Eisengart, J. B., Giugliani, R., Héron, B., Muschol, N., O'Neill, C., Olivier, S., & Parker, S. (2021). An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA. Molecular genetics and metabolism, . https://doi.org/10.1016/j.ymgme.2021.12.002
Wijburg, Frits A, et al. "An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA." Molecular genetics and metabolism vol. (2021). doi: https://doi.org/10.1016/j.ymgme.2021.12.002
Wijburg FA, Aiach K, Chakrapani A, Eisengart JB, Giugliani R, Héron B, Muschol N, O'Neill C, Olivier S, Parker S. An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA. Mol Genet Metab. 2021 Dec 10; doi: 10.1016/j.ymgme.2021.12.002. Epub 2021 Dec 10. PMID: 34991944.
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Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS).

European heart journal. Cardiovascular pharmacotherapy

Lenders M, Nordbeck P, Kurschat C, Eveslage M, Karabul N, Kaufeld J, Hennermann JB, Patten M, Cybulla M, Müntze J, Üçeyler N, Liu D, Das AM, Sommer C, Pogoda C, Reiermann S, Duning T, Gaedeke J, von Cossel K, Blaschke D, Brand SM, Alexander Mann W, Kampmann C, Muschol N, Canaan-Kühl S, Brand E.
PMID: 33725118
Eur Heart J Cardiovasc Pharmacother. 2021 Mar 16; doi: 10.1093/ehjcvp/pvab025. Epub 2021 Mar 16.

AIMS: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A (GLA/AGAL) resulting in lysosomal accumulation of globotriaosylceramide (Gb3). Patients with amenable GLA mutations can be treated with migalastat, an...

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Lenders M, Nordbeck P, Kurschat C, et al. Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS). Eur Heart J Cardiovasc Pharmacother. 2021;doi: 10.1093/ehjcvp/pvab025.
Lenders, M., Nordbeck, P., Kurschat, C., Eveslage, M., Karabul, N., Kaufeld, J., Hennermann, J. B., Patten, M., Cybulla, M., Müntze, J., Üçeyler, N., Liu, D., Das, A. M., Sommer, C., Pogoda, C., Reiermann, S., Duning, T., Gaedeke, J., von Cossel, K., Blaschke, D., Brand, S. M., Alexander Mann, W., Kampmann, C., Muschol, N., Canaan-Kühl, S., & Brand, E. (2021). Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS). European heart journal. Cardiovascular pharmacotherapy, . https://doi.org/10.1093/ehjcvp/pvab025
Lenders, Malte, et al. "Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS)." European heart journal. Cardiovascular pharmacotherapy vol. (2021). doi: https://doi.org/10.1093/ehjcvp/pvab025
Lenders M, Nordbeck P, Kurschat C, Eveslage M, Karabul N, Kaufeld J, Hennermann JB, Patten M, Cybulla M, Müntze J, Üçeyler N, Liu D, Das AM, Sommer C, Pogoda C, Reiermann S, Duning T, Gaedeke J, von Cossel K, Blaschke D, Brand SM, Alexander Mann W, Kampmann C, Muschol N, Canaan-Kühl S, Brand E. Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS). Eur Heart J Cardiovasc Pharmacother. 2021 Mar 16; doi: 10.1093/ehjcvp/pvab025. Epub 2021 Mar 16. PMID: 33725118.
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A non-conventional discontinuous Lagrangian for viscous flow.

Royal Society open science

Scholle M, Marner F.
PMID: 28386415
R Soc Open Sci. 2017 Feb 08;4(2):160447. doi: 10.1098/rsos.160447. eCollection 2017 Feb.

Drawing an analogy with quantum mechanics, a new Lagrangian is proposed for a variational formulation of the Navier-Stokes equations which to-date has remained elusive. A key feature is that the resulting Lagrangian is discontinuous in nature, posing additional challenges...

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Scholle M, Marner F. A non-conventional discontinuous Lagrangian for viscous flow. R Soc Open Sci. 2017;4(2):160447doi: 10.1098/rsos.160447.
Scholle, M., & Marner, F. (2017). A non-conventional discontinuous Lagrangian for viscous flow. Royal Society open science, 4(2), 160447. https://doi.org/10.1098/rsos.160447
Scholle, M, and Marner, F. "A non-conventional discontinuous Lagrangian for viscous flow." Royal Society open science vol. 4,2 (2017): 160447. doi: https://doi.org/10.1098/rsos.160447
Scholle M, Marner F. A non-conventional discontinuous Lagrangian for viscous flow. R Soc Open Sci. 2017 Feb 08;4(2):160447. doi: 10.1098/rsos.160447. eCollection 2017 Feb. PMID: 28386415; PMCID: PMC5367296.
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Pulse switching in nonlinear fiber directional couplers.

Physical review. E, Statistical physics, plasmas, fluids, and related interdisciplinary topics

Gölles M, Kivshar YS, Lederer F, Malomed BA, Muschall R, Uzunov IM.
PMID: 9962915
Phys Rev E Stat Phys Plasmas Fluids Relat Interdiscip Topics. 1995 Mar;51(3):2527-2537. doi: 10.1103/physreve.51.2527.

No abstract available.

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Gölles M, Kivshar YS, Lederer F, et al. Pulse switching in nonlinear fiber directional couplers. Phys Rev E Stat Phys Plasmas Fluids Relat Interdiscip Topics. 1995;51(3):2527-2537doi: 10.1103/physreve.51.2527.
Gölles, M., Kivshar, Y. S., Lederer, F., Malomed, B. A., Muschall, R., & Uzunov, I. M. (1995). Pulse switching in nonlinear fiber directional couplers. Physical review. E, Statistical physics, plasmas, fluids, and related interdisciplinary topics, 51(3), 2527-2537. https://doi.org/10.1103/physreve.51.2527
Gölles, et al. "Pulse switching in nonlinear fiber directional couplers." Physical review. E, Statistical physics, plasmas, fluids, and related interdisciplinary topics vol. 51,3 (1995): 2527-2537. doi: https://doi.org/10.1103/physreve.51.2527
Gölles M, Kivshar YS, Lederer F, Malomed BA, Muschall R, Uzunov IM. Pulse switching in nonlinear fiber directional couplers. Phys Rev E Stat Phys Plasmas Fluids Relat Interdiscip Topics. 1995 Mar;51(3):2527-2537. doi: 10.1103/physreve.51.2527. PMID: 9962915.
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Competing Lagrangians for incompressible and compressible viscous flow.

Royal Society open science

Marner F, Scholle M, Herrmann D, Gaskell PH.
PMID: 30800393
R Soc Open Sci. 2019 Jan 16;6(1):181595. doi: 10.1098/rsos.181595. eCollection 2019 Jan.

A recently proposed variational principle with a discontinuous Lagrangian for viscous flow is reinterpreted against the background of stochastic variational descriptions of dissipative systems, underpinning its physical basis from a different viewpoint. It is shown that additional non-classical contributions...

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Marner F, Scholle M, Herrmann D, et al. Competing Lagrangians for incompressible and compressible viscous flow. R Soc Open Sci. 2019;6(1):181595doi: 10.1098/rsos.181595.
Marner, F., Scholle, M., Herrmann, D., & Gaskell, P. H. (2019). Competing Lagrangians for incompressible and compressible viscous flow. Royal Society open science, 6(1), 181595. https://doi.org/10.1098/rsos.181595
Marner, F, et al. "Competing Lagrangians for incompressible and compressible viscous flow." Royal Society open science vol. 6,1 (2019): 181595. doi: https://doi.org/10.1098/rsos.181595
Marner F, Scholle M, Herrmann D, Gaskell PH. Competing Lagrangians for incompressible and compressible viscous flow. R Soc Open Sci. 2019 Jan 16;6(1):181595. doi: 10.1098/rsos.181595. eCollection 2019 Jan. PMID: 30800393; PMCID: PMC6366193.
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Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report.

Journal of orthopaedic case reports

Berger-Groch J, Rupprecht M, Stuecker R, Muschol N, Breyer SR.
PMID: 30740376
J Orthop Case Rep. 2018 Sep-Oct;8(5):50-53. doi: 10.13107/jocr.2250-0685.1208.

INTRODUCTION: Morquio A syndrome or mucopolysaccharidosis type IVA (MPS IVA) is a progressive lysosomal storage disorder caused by an N-acetylgalactosamine-6-sulfatase deficiency. The abnormal metabolism of glycosaminoglycans among other medical problems leads to various skeletal disorders caused by a dysfunction...

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Berger-Groch J, Rupprecht M, Stuecker R, et al. Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report. J Orthop Case Rep. 2018;8(5):50-53doi: 10.13107/jocr.2250-0685.1208.
Berger-Groch, J., Rupprecht, M., Stuecker, R., Muschol, N., & Breyer, S. R. (2018). Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report. Journal of orthopaedic case reports, 8(5), 50-53. https://doi.org/10.13107/jocr.2250-0685.1208
Berger-Groch, Josephine, et al. "Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report." Journal of orthopaedic case reports vol. 8,5 (2018): 50-53. doi: https://doi.org/10.13107/jocr.2250-0685.1208
Berger-Groch J, Rupprecht M, Stuecker R, Muschol N, Breyer SR. Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report. J Orthop Case Rep. 2018 Sep-Oct;8(5):50-53. doi: 10.13107/jocr.2250-0685.1208. PMID: 30740376; PMCID: PMC6367297.
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Origin, toxicity and characteristics of two amyloid oligomer polymorphs.

RSC chemical biology

Niyangoda C, Barton J, Bushra N, Karunarathne K, Strauss G, Fakhre F, Koria P, Muschol M.
PMID: 34977578
RSC Chem Biol. 2021 Aug 25;2(6):1631-1642. doi: 10.1039/d1cb00081k. eCollection 2021 Dec 02.

There is compelling evidence that small oligomeric aggregates, emerging during the assembly of amyloid fibrils and plaques, are important molecular pathogens in many amyloid diseases. While significant progress has been made in revealing the mechanisms underlying fibril growth, understanding...

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Niyangoda C, Barton J, Bushra N, et al. Origin, toxicity and characteristics of two amyloid oligomer polymorphs. RSC Chem Biol. 2021;2(6):1631-1642doi: 10.1039/d1cb00081k.
Niyangoda, C., Barton, J., Bushra, N., Karunarathne, K., Strauss, G., Fakhre, F., Koria, P., & Muschol, M. (2021). Origin, toxicity and characteristics of two amyloid oligomer polymorphs. RSC chemical biology, 2(6), 1631-1642. https://doi.org/10.1039/d1cb00081k
Niyangoda, Chamani, et al. "Origin, toxicity and characteristics of two amyloid oligomer polymorphs." RSC chemical biology vol. 2,6 (2021): 1631-1642. doi: https://doi.org/10.1039/d1cb00081k
Niyangoda C, Barton J, Bushra N, Karunarathne K, Strauss G, Fakhre F, Koria P, Muschol M. Origin, toxicity and characteristics of two amyloid oligomer polymorphs. RSC Chem Biol. 2021 Aug 25;2(6):1631-1642. doi: 10.1039/d1cb00081k. eCollection 2021 Dec 02. PMID: 34977578; PMCID: PMC8637835.
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Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease.

Orphanet journal of rare diseases

Atiskova Y, Wildner J, Spitzer MS, Aries C, Muschol N, Dulz S.
PMID: 34801073
Orphanet J Rare Dis. 2021 Nov 20;16(1):485. doi: 10.1186/s13023-021-02080-0.

PURPOSE: The aim of this case control study was to evaluate the prognostic value of automatically quantified retinal vessel tortuosity from fundus images and vessel density from OCT-A in Fabry disease and to evaluate the correlation of these with...

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Atiskova Y, Wildner J, Spitzer MS, et al. Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease. Orphanet J Rare Dis. 2021;16(1):485doi: 10.1186/s13023-021-02080-0.
Atiskova, Y., Wildner, J., Spitzer, M. S., Aries, C., Muschol, N., & Dulz, S. (2021). Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease. Orphanet journal of rare diseases, 16(1), 485. https://doi.org/10.1186/s13023-021-02080-0
Atiskova, Yevgeniya, et al. "Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease." Orphanet journal of rare diseases vol. 16,1 (2021): 485. doi: https://doi.org/10.1186/s13023-021-02080-0
Atiskova Y, Wildner J, Spitzer MS, Aries C, Muschol N, Dulz S. Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease. Orphanet J Rare Dis. 2021 Nov 20;16(1):485. doi: 10.1186/s13023-021-02080-0. PMID: 34801073; PMCID: PMC8605526.
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Showing 25 to 33 of 33 entries