Research ExplorerScientific StaffAngela Schulz Publications

Dr.med. ID: 55805

Angela Schulz

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Publications

  1. 2024

  2. The parent and family impact of CLN3 disease: an observational survey-based study

    Schulz, A., Patel, N., Brudvig, J. J., Stehr, F., Weimer, J. M. & Augustine, E. F., 18.03.2024, In: ORPHANET J RARE DIS. 19, 1, p. 125

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

  3. 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

  4. 2023

  5. 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

  6. 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

  7. 2022

  8. 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

  9. 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

  10. Therapeutic Management of COVID-19 in a Pediatric Patient with Neurodegenerative CLN2 Disease and ICV-Enzyme Replacement Therapy: A Case Report

    Schwering, C., Apostolidou, S., Deindl, P., Christner, M., Knobloch, J. K-M., Herrmann, J., Kobbe, R., Schulz, A., Singer, D. & Ebenebe, C. U., 10.2022, In: NEUROPEDIATRICS. 53, 5, p. 381-384 4 p.

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

  11. 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

  12. 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

  13. 2021

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration

    Kim, A., Grover, A., Hammon, K., de Hart, G., Slasor, P., Cherukuri, A., Ajayi, T., Jacoby, D., Schulz, A., Specchio, N., de Los Reyes, E., Gissen, P. & Henshaw, J. W., 03.2021, In: CTS-CLIN TRANSL SCI. 14, 2, p. 635-644 10 p.

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

  20. 2020

  21. Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry

    Maeser, S., Petre, B-A., Ion, L., Rawer, S., Kohlschütter, A., Santorelli, F. M., Simonati, A., Schulz, A. & Przybylski, M., 29.10.2020, In: J MASS SPECTROM. 56, 1, e4675.

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

  22. Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity

    Rietdorf, K., Coode, E. E., Schulz, A., Wibbeler, E., Bootman, M. D. & Ostergaard, J. R., 01.09.2020, In: BBA-MOL BASIS DIS. 1866, 9, 165643.

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

  23. 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

  24. 2019

  25. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

    Gardner, E., Bailey, M., Schulz, A., Aristorena, M., Miller, N. & Mole, S. E., 11.2019, In: HUM MUTAT. 40, 11, p. 1924-1938 15 p.

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

  26. Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking

    Schmidtke, C., Tiede, S., Thelen, M., Käkelä, R., Jabs, S., Makrypidi, G., Sylvester, M., Schweizer, M., Braren, I., Brocke-Ahmadinejad, N., Cotman, S. L., Schulz, A., Gieselmann, V. & Braulke, T., 14.06.2019, In: J BIOL CHEM. 294, 24, p. 9592-9604 13 p.

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

  27. Patient reported outcomes in Friedreich's Ataxia after withdrawal from Idebenone

    Cook, A., Boesch, S., Heck, S., Brunt, E., Klockgether, T., Schöls, L., Schulz, A. & Giunti, P., 06.2019, In: ACTA NEUROL SCAND. 139, 6, p. 533-539 7 p.

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

  28. 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

  29. Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses

    Kohlschütter, A., Schulz, A., Bartsch, U. & Storch, S., 04.2019, In: CNS DRUGS. 33, 4, p. 315-325 11 p.

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

  30. Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

    Mole, S. E., Anderson, G., Band, H. A., Berkovic, S. F., Cooper, J. D., Kleine Holthaus, S-M., McKay, T. R., Medina, D. L., Rahim, A. A., Schulz, A. & Smith, A. J., 01.2019, In: LANCET NEUROL. 18, 1, p. 107-116 10 p.

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

  31. 2018

  32. Autophagic vacuolar myopathy is a common feature in CLN3 disease

    Radke, J., Koll, R., Gill, E., Wiese, L., Schulz, A., Kohlschütter, A., Schuelke, M., Hagel, C., Stenzel, W. & Goebel, HH., 06.09.2018, In: ANN CLIN TRANSL NEUR. 5, 11, p. 1385-1393 9 p.

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

  33. 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

  34. 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

  35. 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

  36. 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

  37. 2017

  38. Treatment of brain disease in the mucopolysaccharidoses

    Scarpa, M., orchard, P., Schulz, A., Dickson, P. I., Haskins, M. E., Escolar, M. L. & Giugliani, R., 16.10.2017, In: MOL GENET METAB. 122S, p. 25-34 10 p.

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

  39. Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5

    Simonati, A., Williams, R. E., Nardocci, N., Laine, M., Battini, R., Schulz, A., Garavaglia, B., Moro, M. F., Pezzini, F. & Santorelli, F. M., 08.2017, In: DEV MED CHILD NEUROL. 59, 8, p. 815-821 7 p.

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

  40. 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

  41. 2016

  42. 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

  43. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

    Fietz, M., AlSayed, M., Burke, D., Cohen-Pfeffer, J., Cooper, J. D., Dvořáková, L., Giugliani, R., Izzo, E., Jahnová, H., Lukacs, Z., Mole, S. E., Noher de Halac, I., Pearce, D. A., Poupetova, H., Schulz, A., Specchio, N., Xin, W. & Miller, N., 09.2016, In: MOL GENET METAB. 119, 1-2, p. 160-7

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

  44. CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis)

    Kohlschütter, A. & Schulz, A., 06.2016, In: PEDIATR ENDOCRINOL REV. 13 , Suppl 1, p. 682-8

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

  45. 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

  46. 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

  47. 2015

  48. Reprint of "Ethical issues with artificial nutrition of children with degenerative brain diseases"

    Kohlschütter, A., Riga, C., Crespo, D., Torres, J. M., Penchaszadeh, V. & Schulz, A., 10.2015, In: BBA-MOL BASIS DIS. 1852, 10 Pt B, p. 2312-5 4 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  49. Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations

    Bergholz, R., Kohlschütter, A., Schulz, A., Hubert, W. & Rüther, K., 08.2015, In: GRAEF ARCH CLIN EXP. 253, 8, p. 1245-1250 5 p.

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

  50. Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway

    Di Fruscio, G., Schulz, A., De Cegli, R., Savarese, M., Mutarelli, M., Parenti, G., Banfi, S., Braulke, T., Nigro, V. & Ballabio, A., 06.2015, In: AUTOPHAGY. 11, 6, p. 928-38 11 p.

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

  51. Ethical issues with artificial nutrition of children with degenerative brain diseases

    Kohlschütter, A., Riga, C., Crespo, D., Torres, J. M., Penchaszadeh, V. & Schulz, A., 17.03.2015, In: BBA-MOL BASIS DIS. 1852, 7, p. 1253-1256 4 p.

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

  52. 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

  53. 2014

  54. 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

  55. 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

  56. Epilepsy in Neuronal Ceroid Lipofuscinoses (NCL)

    Kohlschütter, A., Schulz, A. & Denecke, J., 2014, In: J Pediatr Epilepsy. 3, p. 199-206

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

  57. 2013

  58. NCL diseases - clinical perspectives

    Schulz, A., Kohlschütter, A., Mink, J., Simonati, A. & Williams, R., 01.11.2013, In: BBA-MOL BASIS DIS. 1832, 11, p. 1801-6 6 p.

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

  59. NCL Disorders: Frequent Causes of Childhood Dementia

    Schulz, A. & Kohlschütter, A., 01.01.2013, In: IRAN J CHILD NEUROL. 7, 1, p. 1-8 8 p.

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

  60. Quantitative t2 measurements in juvenile and late infantile neuronal ceroid lipofuscinosis.

    Bravo, A. P., Forkert, N. D., Schulz, A., Löbel, U., Fiehler, J., Ding, X., Sedlacik, J., Rosenkranz, M. & Goebell, E., 2013, In: CLIN NEURORADIOL. 23, 3, p. 189-196 8 p., 3.

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

  61. 2012

  62. Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

    Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topçu, M., Gökben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O. & Lehesjoki, A-E., 01.06.2012, In: J MED GENET. 49, 6, p. 391-9 9 p.

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

  63. Neuronale Zeroidlipofuszinosen (NCL) - Metabolische Demenzkrankheiten im Kindesalter

    Schulz, A. & Kohlschütter, A., 2012, In: MONATSSCHR KINDERH. 160, p. 734-741 10 p.

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

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