Research ExplorerScientific StaffMiriam Nickel Publications

ID: 64097

Miriam Nickel

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Affiliations
ORCID: 0000-0002-1870-1142
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Publications

  1. 2024

  2. Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study

    Schulz, A., Specchio, N., de Los Reyes, E., Gissen, P., Nickel, M., Trivisano, M., Aylward, S. C., Chakrapani, A., Schwering, C., Wibbeler, E., Westermann, L. M., Ballon, D. J., Dyke, J. P., Cherukuri, A., Bondade, S., Slasor, P. & Cohen Pfeffer, J., 01.2024, In: LANCET NEUROL. 23, 1, p. 60-70 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. 2023

  4. Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?

    Nickel, M., Gissen, P., Greenaway, R., Cappelletti, S., Hamborg, C., Ragni, B., Ribitzki, T., Schulz, A., Tondo, I. & Specchio, N., 12.2023, In: NEUROPEDIATRICS. 54, 6, p. 402-406 5 p.

    Research output: SCORING: Contribution to journal › Short publication › Research › peer-review

  5. Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)

    Dulz, S., Schwering, C., Wildner, J., Spartalis, C., Schuettauf, F., Bartsch, U., Wibbeler, E., Nickel, M., Spitzer, M. S., Atiskova, Y. & Schulz, A., 10.2023, In: BRIT J OPHTHALMOL. 107, 10, p. 1478-1483 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. 2022

  7. Visual perception and macular integrity in non-classical CLN2 disease

    Atiskova, Y., Wildner, J., Wibbeler, E., Nickel, M., Spitzer, M. S., Schwering, C., Schulz, A. & Dulz, S., 11.2022, In: GRAEF ARCH CLIN EXP. 260, 11, p. 3693-3700 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. Natural history of MRI brain volumes in patients with neuronal ceroid lipofuscinosis 3: a sensitive imaging biomarker

    Hochstein, J-N., Schulz, A., Nickel, M., Lezius, S., Grosser, M., Fiehler, J., Sedlacik, J. & Löbel, U., 10.2022, In: NEURORADIOLOGY. 64, 10, p. 2059-2067 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  9. The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample

    Wibbeler, E., Nickel, M., Schwering, C., Schulz, A. & Mink, J. W., 05.2022, In: EUR J PAEDIATR NEURO. 38, p. 62-65 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. Natural History Studies in NCL and Their Expanding Role in Drug Development: Experiences From CLN2 Disease and Relevance for Clinical Trials

    Nickel, M. & Schulz, A., 2022, In: FRONT NEUROL. 13, 785841.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  11. 2021

  12. Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients

    Schwering, C., Kammler, G., Wibbeler, E., Christner, M., Knobloch, J. K-M., Nickel, M., Denecke, J., Baehr, M. & Schulz, A., 07.2021, In: J CHILD NEUROL. 36, 8, p. 635-641 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. Management of CLN1 Disease: International Clinical Consensus

    Augustine, E. F., Adams, H. R., de Los Reyes, E., Drago, K., Frazier, M., Guelbert, N., Laine, M., Levin, T., Mink, J. W., Nickel, M., Peifer, D., Schulz, A., Simonati, A., Topcu, M., Turunen, J. A., Williams, R., Wirrell, E. C. & King, S., 07.2021, In: PEDIATR NEUROL. 120, p. 38-51 14 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. Investigating health-related quality of life in rare diseases:a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

    Gissen, P., Specchio, N., Olaye, A., Jain, M., Butt, T., Ghosh, W., Ruban-Fell, B., Griffiths, A., Camp, C., Sisic, Z., Schwering, C., Wibbeler, E., Trivisano, M., Lee, L., Nickel, M., Mortensen, A. & Schulz, A., 12.05.2021, In: ORPHANET J RARE DIS. 16, 1, 217.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  15. Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease:A Retrospective Case Series

    Wibbeler, E., Wang, R., Reyes, E. D. L., Specchio, N., Gissen, P., Guelbert, N., Nickel, M., Schwering, C., Lehwald, L., Trivisano, M., Lee, L., Amato, G., Cohen-Pfeffer, J., Shediac, R., Leal-Pardinas, F. & Schulz, A., 05.2021, In: J CHILD NEUROL. 36, 6, p. 468-474 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

    Mole, S. E., Schulz, A., Badoe, E., Berkovic, S. F., de Los Reyes, E. C., Dulz, S., Gissen, P., Guelbert, N., Lourenco, C. M., Mason, H. L., Mink, J. W., Murphy, N., Nickel, M., Olaya, J. E., Scarpa, M., Scheffer, I. E., Simonati, A., Specchio, N., Von Löbbecke, I., Wang, R. Y. & Williams, R. E., 21.04.2021, In: ORPHANET J RARE DIS. 16, 1, 185.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., Sebire, G., Lourenço, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Strømme, P., de Grauw, T., Gieruszczak-Bialek, D., Krägeloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., McClintock, W., McEntagart, M., McKenzie, F., Melançon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Özkınay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M-F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sønderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., van de Warrenburg, B. P., Vázquez-López, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., van der Knaap, M., Vanderver, A., Martos-Moreno, G. Á., Polychronakos, C., Wolf, N. I. & Bernard, G., 23.01.2021, In: J CLIN ENDOCR METAB. 106, 2, p. e660-e674 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  18. 2020

  19. An ophthalmic rating scale to assess ocular involvement in juvenile CLN3 disease

    Dulz, S., Atiskova, Y., Wibbeler, E., Wildner, J. E., Wagenfeld, L., Schwering, C., Nickel, M., Bartsch, U., Spitzer, M. & Schulz, A., 21.07.2020, In: AM J OPHTHALMOL. 220, p. 64-71

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy

    Kohlschütter, A., Finckh, B., Nickel, M., Bley, A. & Hübner, C., 2020, In: NEURODEGENER DIS. 20, 1, p. 35-38 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. 2019

  22. Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

    Lukacs, Z., Nickel, M., Murko, S., Nieves Cobos, P., Schulz, A., Santer, R. & Kohlschütter, A., 05.2019, In: CLIN CHIM ACTA. 492, p. 69-71 3 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. 2018

  24. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study

    Nickel, M., Simonati, A., Jacoby, D., Lezius, S., Kilian, D., Van de Graaf, B., Pagovich, O. E., Kosofsky, B., Yohay, K., Downs, M., Slasor, P., Ajayi, T., Crystal, R. G., Kohlschütter, A., Sondhi, D. & Schulz, A., 08.2018, In: LANCET CHILD ADOLESC. 2, 8, p. 582-590 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  25. An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease

    Wyrwich, K. W., Schulz, A., Nickel, M., Slasor, P., Ajayi, T., Jacoby, D. & Kohlschütter, A., 16.07.2018, In: J Inborn Err Metab Scr (JIEMS). 6, p. 1-7

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  26. Study of Intraventricular Cerliponase Alfa for CLN2 Disease

    Schulz, A., Ajayi, T., Specchio, N., de Los Reyes, E., Gissen, P., Ballon, D., Dyke, J. P., Cahan, H., Slasor, P., Jacoby, D., Kohlschütter, A. & CLN2 Study Group, 17.05.2018, In: NEW ENGL J MED. 378, 20, p. 1898-1907 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  27. Neurodegenerative Erkrankungen des Kindesalters

    Schulz, A. & Nickel, M., 2018, In: MED GENET-BERLIN. 30, 2, p. 231-237

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  28. 2017

  29. Management Strategies for CLN2 Disease

    Williams, R. E., Adams, H. R., Blohm, M., Cohen-Pfeffer, J. L., de Los Reyes, E., Denecke, J., Drago, K., Fairhurst, C., Frazier, M., Guelbert, N., Kiss, S., Kofler, A., Lawson, J. A., Lehwald, L., Leung, M-A., Mikhaylova, S., Mink, J. W., Nickel, M., Shediac, R., Sims, K., Specchio, N., Topcu, M., von Löbbecke, I., West, A., Zernikow, B. & Schulz, A., 04.2017, In: PEDIATR NEUROL. 69, p. 102-112 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  30. 2016

  31. Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression

    Löbel, U., Sedlacik, J., Nickel, M., Lezius, S., Fiehler, J., Nestrasil, I., Kohlschütter, A. & Schulz, A., 10.2016, In: AM J NEURORADIOL. 37, 10, p. 1938 – 1943

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  32. Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease

    Johannsen, J., Nickel, M., Schulz, A. & Denecke, J., 06.2016, In: NEUROPEDIATRICS. 47, 3, p. 194-6 3 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  33. Novel morphological macular findings in juvenile CLN3 disease

    Dulz, S., Wagenfeld, L., Nickel, M., Richard, G., Schwartz, R., Bartsch, U., Kohlschütter, A. & Schulz, A., 06.2016, In: BRIT J OPHTHALMOL. 100, 6, p. 824-8 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. 2015

  35. POLR3A and POLR3B Mutations in Unclassified Hypomyelination

    Cayami, F. K., La Piana, R., van Spaendonk, R. M. L., Nickel, M., Bley, A., Guerrero, K., Tran, L. T., van der Knaap, M. S., Bernard, G. & Wolf, N. I., 06.2015, In: NEUROPEDIATRICS. 46, 3, p. 221-7 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  36. Demenzerkrankungen bei Kindern und Jugendlichen

    Kohlschütter, A., Schulz, A., Bley, A., Nickel, M. & Richterich, A., 2015, In: Päd Praxis. 83, p. 561-570

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Transfer › peer-review

  37. 2014

  38. Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy

    Löbel, U., Schweser, F., Nickel, M., Deistung, A., Grosse, R., Hagel, C., Fiehler, J., Schulz, A., Hartig, M., Reichenbach, J. R., Kohlschütter, A. & Sedlacik, J., 01.12.2014, In: ANN CLIN TRANSL NEUR. 1, 12, p. 1041-6 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

    Wolf, N. I., Vanderver, A., van Spaendonk, R. M. L., Schiffmann, R., Brais, B., Bugiani, M., Sistermans, E., Catsman-Berrevoets, C., Kros, J. M., Pinto, P. S., Pohl, D., Tirupathi, S., Strømme, P., de Grauw, T., Fribourg, S., Demos, M., Pizzino, A., Naidu, S., Guerrero, K., van der Knaap, M. S., Bernard, G. & 4H Research Group, 18.11.2014, In: NEUROLOGY. 83, 21, p. 1898-905 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  40. Unexplained Loss of Vision in a Child: Consider Bilateral Primary Optic Nerve Sheath Meningioma

    Nickel, M., Löbel, U., Holst, B., Kammler, G., Matschke, J., Schulz, A. & Kohlschütter, A., 01.10.2014, In: NEUROPEDIATRICS. 45, 5, p. 321-4 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  41. 2012

  42. "Pelizaeus-Merzbacher-like disease" presenting as complicated hereditary spastic paraplegia

    Zittel, S., Nickel, M., Wolf, N. I., Uyanik, G., Gläser, D., Ganos, C., Gerloff, C., Münchau, A. & Kohlschütter, A., 01.11.2012, In: J NEUROL. 259, 11, p. 2498-500 3 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  43. 2010

  44. Blickdiagnose: Gangstörung und krauses Haar

    Pittner, M. & Kohlschütter, A., 04.2010, In: Neuropäd Klin Prax. 04, p. 125

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Transfer › peer-review