Dr.med. ID: 55805

Angela Schulz

graph of relations

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 journalSCORING: Journal articleResearchpeer-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 journalSCORING: Journal articleResearchpeer-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 journalShort publicationResearchpeer-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 journalSCORING: Journal articleResearchpeer-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 journalSCORING: Journal articleResearchpeer-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 journalSCORING: Journal articleResearchpeer-review

  10. 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 journalSCORING: Journal articleResearchpeer-review

  11. 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 journalSCORING: Review articleResearch

  12. 2021
  13. 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 journalSCORING: Journal articleResearchpeer-review

  14. 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 journalSCORING: Journal articleResearchpeer-review

  15. 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 journalSCORING: Journal articleResearchpeer-review

  16. 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 journalSCORING: Journal articleResearchpeer-review

  17. 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 journalSCORING: Journal articleResearchpeer-review

  18. 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 journalSCORING: Journal articleResearchpeer-review

  19. 2020
  20. 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 journalSCORING: Journal articleResearchpeer-review

  21. 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 journalSCORING: Review articleResearch

  22. 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 journalSCORING: Journal articleResearchpeer-review

  23. 2019
  24. 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 journalSCORING: Journal articleResearchpeer-review

  25. 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 journalSCORING: Journal articleResearchpeer-review

  26. 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 journalSCORING: Journal articleResearchpeer-review

  27. 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 journalSCORING: Journal articleResearchpeer-review

  28. 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 journalSCORING: Journal articleResearchpeer-review

  29. 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 journalSCORING: Review articleResearch

  30. 2018
  31. 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 journalSCORING: Journal articleResearchpeer-review

  32. 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 journalSCORING: Journal articleResearchpeer-review

  33. 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 journalSCORING: Journal articleResearchpeer-review

  34. 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 journalSCORING: Journal articleResearchpeer-review

  35. Neurodegenerative Erkrankungen des Kindesalters

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

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  36. 2017
  37. 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 journalSCORING: Review articleResearch

  38. 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 journalSCORING: Journal articleResearchpeer-review

  39. 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 journalSCORING: Review articleResearch

  40. 2016
  41. 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 journalSCORING: Journal articleResearchpeer-review

  42. 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 journalSCORING: Journal articleResearchpeer-review

  43. 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 journalSCORING: Journal articleResearchpeer-review

  44. 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 journalSCORING: Journal articleResearchpeer-review

  45. 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 journalSCORING: Journal articleResearchpeer-review

  46. 2015
  47. 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 journalOther (editorial matter etc.)Research

  48. 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 journalSCORING: Journal articleResearchpeer-review

  49. 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 journalSCORING: Journal articleResearchpeer-review

  50. 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 journalSCORING: Journal articleResearchpeer-review

  51. 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 journalSCORING: Journal articleTransferpeer-review

  52. 2014
  53. 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 journalSCORING: Journal articleResearchpeer-review

  54. 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 journalSCORING: Journal articleResearchpeer-review

  55. 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 journalSCORING: Journal articleResearchpeer-review

  56. 2013
  57. 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 journalSCORING: Journal articleResearchpeer-review

  58. 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 journalSCORING: Journal articleResearchpeer-review

  59. 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 journalSCORING: Journal articleResearchpeer-review

  60. 2012
  61. 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 journalSCORING: Journal articleResearchpeer-review

  62. 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 journalSCORING: Journal articleResearchpeer-review

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