Dr.med. ID: 55805
Angela Schulz
Publications
- 2000
Selective effect of tumor necrosis factor on transformed versus nontransformed cells: nonselective signal recognition but differential target cell response.
Schulz, A. & Bauer, G., 2000, In: ANTICANCER RES. 20, 5, p. 3435-3442 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Synergistic action between tumor necrosis factor-alpha and transforming growth factor type-beta: consequences for natural antitumor mechanisms.
Schulz, A. & Bauer, G., 2000, In: ANTICANCER RES. 20, 5, p. 3443-3448 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2004
Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.
Schulz, A., Dhar, S., Rylova, S., Dbaibo, G., Alroy, J., Hagel, C., Artacho, I., Kohlschütter, A., Lin, S. & Boustany, R-M., 2004, In: ANN NEUROL. 56, 3, p. 342-350 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2006
The CLN9 protein, a regulator of dihydroceramide synthase.
Schulz, A., Mousallem, T., Venkataramani, M., Persaud-Sawin, D-A., Zucker, A., Luberto, C., Bielawska, A., Bielawski, J., Holthuis, J. C. M., Jazwinski, S. M., Kozhaya, L., Dbaibo, G. S. & Boustany, R-M. N., 2006, In: J BIOL CHEM. 281, 5, p. 2784-2794 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2009
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
Lebrun, A-H., Storch, S., Rüschendorf, F., Schmiedt, M-L., Kyttälä, A., Mole, S. E., Kitzmüller, C., Saar, K., Mewasingh, L. D., Boda, V., Kohlschütter, A., Ullrich, K., Braulke, T. & Schulz, A., 2009, In: HUM MUTAT. 30, 5, p. 651-661 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2011
Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease.
Lebrun, A-H., Moll-Khasrawi, P., Pohl, S., Makrypidi, G., Storch, S., Kilian, D., Streichert, T., Otto, B., Mole, S. E., Ullrich, K., Cotman, S., Kohlschütter, A., Braulke, T. & Schulz, A., 2011, In: MOL MED. 17, 11-12, p. 1253-1261 11-12.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
CLN2
Chang, M., Cooper, J. D., Davidson, B. L., van Diggelen, O., Elleder, M., Goebel, H. H., Golabek, A. A., Kida, E., Kohlschütter, A., Lobel, P., Mole, S. E., Schulz, A., Sleat, D. E., Warburton, M. & Wisniewski, K. E., 2011, The Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford University Press, 30 p.Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review
- 2012
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
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
- 2013
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
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
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
- 2014
Epilepsy in Neuronal Ceroid Lipofuscinoses (NCL)
Kohlschütter, A., Schulz, A. & Denecke, J., 2014, In: J Pediatr Epilepsy. 3, p. 199-206Research 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
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
- 2015
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
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
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
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
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
- 2016
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis)
Kohlschütter, A. & Schulz, A., 06.2016, In: PEDIATR ENDOCRINOL REV. 13 , Suppl 1, p. 682-8Research 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
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. 160-7Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
- 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
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
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
- 2018
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
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
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
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
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
- 2019
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
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
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
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
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
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
- 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
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
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
- 2021
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
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
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
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
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
- 2022
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
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