ID: 64097
Miriam Nickel
Publications
- 2024
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
- 2023
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
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
- 2022
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
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
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
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
- 2021
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
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
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
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
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
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
- 2020
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. 64-71Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
- 2019
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
- 2018
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
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. 1-7Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
Neurodegenerative Erkrankungen des Kindesalters
Schulz, A. & Nickel, M., 2018, In: MED GENET-BERLIN. 30, 2, p. 231-237Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2017
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
- 2016
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 – 1943Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
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
- 2015
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
Demenzerkrankungen bei Kindern und Jugendlichen
Kohlschütter, A., Schulz, A., Bley, A., Nickel, M. & Richterich, A., 2015, In: Päd Praxis. 83, p. 561-570Research output: SCORING: Contribution to journal › SCORING: Journal article › Transfer › peer-review
- 2014
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
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
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
- 2012
"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
- 2010
Blickdiagnose: Gangstörung und krauses Haar
Pittner, M. & Kohlschütter, A., 04.2010, In: Neuropäd Klin Prax. 04, p. 125Research output: SCORING: Contribution to journal › SCORING: Journal article › Transfer › peer-review