المؤلفون: Paul Gissen, Nicola Specchio, Andrew Olaye, Mohit Jain, Thomas Butt, Wrik Ghosh, Benjamin Ruban-Fell, Annabel Griffiths, Charlotte Camp, Zlatko Sisic, Christoph Schwering, Eva Wibbeler, Marina Trivisano, Laura Lee, Miriam Nickel, Amanda Mortensen, Angela Schulz

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: CLN2, Utility values, Vignettes, Cerliponase alfa, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/05ce73df0f3c470db18d58551b88cab3

المؤلفون: Paul Gissen (10791202), Nicola Specchio (10683382), Andrew Olaye (10791205), Mohit Jain (38715), Thomas Butt (5349602), Wrik Ghosh (5340008), Benjamin Ruban-Fell (10791208), Annabel Griffiths (5541629), Charlotte Camp (10791211), Zlatko Sisic (10791214), Christoph Schwering (10791217), Eva Wibbeler (9737939), Marina Trivisano (8362224), Laura Lee (6580700), Miriam Nickel (10683376), Amanda Mortensen (3444515), Angela Schulz (50793)

مصطلحات موضوعية: Medicine, Biotechnology, Ecology, Sociology, Cancer, Mathematical Sciences not elsewhere classified, CLN2, Utility values, Vignettes, Cerliponase alfa

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_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_/14583637

الاتاحة: https://doi.org/10.6084/m9.figshare.14583637.v1

المؤلفون: Christoph Schwering, Sofia Apostolidou, Philipp Deindl, Martin Christner, Johannes K.-M. Knobloch, Jochen Herrmann, Robin Kobbe, Angela Schulz, Dominique Singer, Chinedu Ulrich Ebenebe

المصدر: Neuropediatrics. 53(5)

مصطلحات موضوعية: Male, Oxygen, Adolescent, Tripeptidyl-Peptidase 1, Neuronal Ceroid-Lipofuscinoses, Pediatrics, Perinatology and Child Health, COVID-19, Humans, Enzyme Replacement Therapy, Neurology (clinical), General Medicine, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73af04641f2660f873a46f0af8421183
https://pubmed.ncbi.nlm.nih.gov/35843218

المؤلفون: Eva Wibbeler, Angela Schulz, Miriam Nickel, Martin Christner, Gertrud Kammler, Jonas Denecke, Christoph Schwering, Michael Baehr, Johannes K.-M. Knobloch

المصدر: Journal of Child Neurology

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Disease, CLN2 disease, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, ventriculitis, medicine, Ventriculitis, Humans, Enzyme Replacement Therapy, Treatment experience, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, CNS infection, intracerebroventricular device, business.industry, intracerebroventricular treatment, Original Articles, Enzyme replacement therapy, medicine.disease, Recombinant Proteins, Infusions, Intraventricular, 030220 oncology & carcinogenesis, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, Neuronal ceroid lipofuscinosis, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b8b83caeba6c3c1cf694d2c73a51942
https://doi.org/10.1177/0883073821989154

المؤلفون: Marina Trivisano, Lenora Lehwald, Paul Gissen, Jessica Cohen-Pfeffer, Nicola Specchio, Angela Schulz, Christoph Schwering, Laura Lee, Raymond Y. Wang, Renée Shediac, Eva Wibbeler, Norberto Guelbert, Emily de los Reyes, Fernanda Leal-Pardinas, Miriam Nickel, Gianni Amato

المصدر: Journal of Child Neurology
Journal of child neurology, vol 36, iss 6

مصطلحات موضوعية: Male, 0301 basic medicine, Aging, Pathology, Internationality, Endocrinology, Diabetes and Metabolism, Cerliponase alfa, Disease, Neurodegenerative, Biochemistry, Epilepsy, Endocrinology, 0302 clinical medicine, cerliponase alfa, Child, late infantile neuronal ceroid lipofuscinosis, Clinical course, Phenotype, Recombinant Proteins, Neuronal Ceroid Lipofuscinosis Type 2, Natural history, Treatment Outcome, natural history, Child, Preschool, Neurological, Cognitive Sciences, Female, medicine.medical_specialty, Clinical Sciences, CLN2 disease, 03 medical and health sciences, Rare Diseases, Neuronal Ceroid-Lipofuscinoses, Genetics, medicine, Humans, Preschool, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Molecular Biology, Retrospective Studies, Neurology & Neurosurgery, business.industry, Neurosciences, Original Articles, medicine.disease, neuronal ceroid lipofuscinosis type 2, Brain Disorders, Orphan Drug, 030104 developmental biology, atypical, Pediatrics, Perinatology and Child Health, Neurology (clinical), Late infantile neuronal ceroid lipofuscinosis, business, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6c1b91f1d50fad5d5f92cf2d45837a5
https://doi.org/10.1177/0883073820977997

المؤلفون: Simon Dulz, Martin S. Spitzer, Christoph Schwering, Yevgeniya Atiskova, Eva Wibbeler, Angela Schulz, Jan Wildner, Lars Wagenfeld, Miriam Nickel, Udo Bartsch

المصدر: American Journal of Ophthalmology. 220:64-71

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Batten disease, Adolescent, DNA Mutational Analysis, Disease, Fundus (eye), Young Adult, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Rating scale, Humans, Medicine, Juvenile, Child, Visual testing, Retrospective Studies, 030304 developmental biology, 0303 health sciences, Membrane Glycoproteins, business.industry, Retinal Degeneration, DNA, Progressive neurodegenerative disorder, medicine.disease, Ophthalmology, Cross-Sectional Studies, CLN3, Child, Preschool, Mutation, Disease Progression, 030221 ophthalmology & optometry, Female, business, Tomography, Optical Coherence, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b1cdd19c9502d75d8833e234c88039f
https://doi.org/10.1016/j.ajo.2020.07.015

المؤلفون: Eva Wibbeler, Miriam Nickel, Christoph Schwering, Angela Schulz, Jonathan W. Mink

المصدر: Eur J Paediatr Neurol

مصطلحات موضوعية: Adult, Membrane Glycoproteins, Adolescent, Vision Disorders, Reproducibility of Results, General Medicine, Severity of Illness Index, Article, Young Adult, Neuronal Ceroid-Lipofuscinoses, Pediatrics, Perinatology and Child Health, Mutation, Humans, Neurology (clinical), Child, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b7d04a0dc2c43cb9ce09d6b51a98738
https://pubmed.ncbi.nlm.nih.gov/35427884

المؤلفون: Luca Hagenah, Christoph Schwering, Catherine Wilson, Eva Wibbeler, Lena Marie Westermann, Yoonjin Cho, Miriam Nickel, Angela Schulz, Dawn Phillips

المصدر: Molecular Genetics and Metabolism. 138:107135

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4ab9143898b31b1da770fecf2c3c05f3
https://doi.org/10.1016/j.ymgme.2022.107135

المؤلفون: Yevgeniya Atiskova, Jan Wildner, Eva Wibbeler, Miriam Nickel, Martin Stephan Spitzer, Christoph Schwering, Angela Schulz, Simon Dulz

المصدر: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. 260(11)

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Ophthalmology, Tripeptidyl-Peptidase 1, Neuronal Ceroid-Lipofuscinoses, Visual Acuity, Humans, Longitudinal Studies, Prospective Studies, Child, Sensory Systems, Tomography, Optical Coherence

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d5d7ef81ac6e86eeae1348cf595406
https://pubmed.ncbi.nlm.nih.gov/35652945

المؤلفون: Miriam Nickel, Christoph Schwering, Lena Marie Westermann, Eva Wibbeler, Susanne Lezius, Esther M. Maier, Simon Dulz, Angela Schulz

المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.

مصطلحات موضوعية: medicine.medical_specialty, Standard of care, business.industry, medicine, Observational study, Disease, Cerliponase alfa, Intensive care medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ff175d50caae7603b1e91721c665e43e
https://doi.org/10.1055/s-0041-1739698

المؤلفون: Martin Christner, Angela Schulz, Christian Hagel, Gertrud Kammler, Ulrich Schüller, Eva Wibbeler, Miriam Nickel, Christoph Schwering, Torben Johansen

المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, Cardiology, Medicine, business, Term (time)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9a262cfff733097cb299e12c0c5d0fd0
https://doi.org/10.1055/s-0041-1739585

المؤلفون: Christoph Schwering, Eva Wibbeler, Susanne Lezius, Miriam Nickel, Angela Schulz, Lena Marie Westermann

المصدر: Molecular Genetics and Metabolism. 135:S88-S89

مصطلحات موضوعية: Endocrinology, Scale (ratio), business.industry, Endocrinology, Diabetes and Metabolism, Disease progression, Genetics, Medicine, business, Cartography, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76b9b0242fae5028b26a00547b267d99
https://doi.org/10.1016/j.ymgme.2021.11.229

المؤلفون: Thomas Butt, Andrew Olaye, Mohit Jain, Nicola Specchio, Marina Trivisano, Laura Lee, Charlotte Camp, Eva Wibbeler, Benjamin Ruban-Fell, Amanda Mortensen, A Griffiths, Christoph Schwering, Zlatko Sisic, Angela Schulz, Miriam Nickel, W Ghosh, Paul Gissen

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Health Status, Disease, Cerliponase alfa, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Quality of life, Rating scale, Neuronal Ceroid-Lipofuscinoses, Utility values, Surveys and Questionnaires, medicine, Vignettes, Humans, Pharmacology (medical), 030212 general & internal medicine, Child, Genetics (clinical), Depression (differential diagnoses), Clinical Trials as Topic, Tripeptidyl-Peptidase 1, business.industry, Depression, 030503 health policy & services, Research, CLN2, General Medicine, medicine.disease, Neuronal Ceroid Lipofuscinosis Type 2, Quality of Life, Anxiety, Medicine, medicine.symptom, 0305 other medical science, business, Progressive disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::257887b0360c80c3582e312605ae3645
https://pubmed.ncbi.nlm.nih.gov/33980287

المؤلفون: Christoph Schwering, Daniel Beck, Stefan Schiffer, Gerhard Lakemeyer

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.kbsg.rwth-aachen.de/sites/kbsg/files/PlaRaPeX_0.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.678.4734; http://www.kbsg.rwth-aachen.de/sites/kbsg/files/PlaRaPeX_0.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.678.4734
http://www.kbsg.rwth-aachen.de/sites/kbsg/files/PlaRaPeX_0.pdf

المؤلفون: Dawn Phillips, Yoonjin Cho, Marie-Laure Nevoret, Michelle Wood, Miriam Nickel, Christoph Schwering, Lena Marie Westermann, Angela Schulz

المصدر: Molecular Genetics and Metabolism. 135:S97

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dee4a0764e70a5d8149441f406cf0c00
https://doi.org/10.1016/j.ymgme.2021.11.254

المؤلفون: Angela Schulz, Christoph Schwering, Eva Wibbeler, Lena Westermann, Simon Dulz, Susanne Lezius, Miriam Nickel

المصدر: Molecular Genetics and Metabolism. 135:S109

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::57fe07868ede36b25efb987418f82e3f
https://doi.org/10.1016/j.ymgme.2021.11.288

المؤلفون: Gerhard Lakemeyer, Christoph Schwering, Maurice Pagnucco

المصدر: Artificial Intelligence. 251:62-97

مصطلحات موضوعية: Linguistics and Language, Knowledge representation and reasoning, Formalism (philosophy), business.industry, Belief structure, Defeasible estate, 02 engineering and technology, Belief revision, Language and Linguistics, Epistemology, TheoryofComputation_MATHEMATICALLOGICANDFORMALLANGUAGES, Knowledge base, Artificial Intelligence, 020204 information systems, 0202 electrical engineering, electronic engineering, information engineering, 020201 artificial intelligence & image processing, Situation calculus, Projection (set theory), business, Mathematics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::02f38045cf1feaa01449b01745100909
https://doi.org/10.1016/j.artint.2017.07.004

المؤلفون: Daniel A. Lim, Irene Slavc, E. Jurecki, J. Cohen-Pfeffer, A. Shaywitz, J. Krauser, T. Lester, Christoph Schwering, S. Gururangan, M. Maldaun, M. Westphal

المصدر: Neuropediatrics. 48:S1-S45

مصطلحات موضوعية: business.industry, Expert opinion, Pediatrics, Perinatology and Child Health, Drug delivery, medicine, Neurology (clinical), General Medicine, Medical emergency, medicine.disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::51b54791d4b9befa4487d223a93e6110
https://doi.org/10.1055/s-0037-1602919

المؤلفون: Angela Schulz, Miriam Nickel, Christoph Schwering, Eva Wibbeler

المصدر: Neuropediatrics.

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, Medicine, In patient, Disease, Pediatric Neurology, business, Cannabidiol, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::61a763fe13c8385429b8d2f1b2b9544b
https://doi.org/10.1055/s-0039-1698230

المؤلفون: Miriam Nickel, Christoph Schwering, Eva Wibbeler, Angela Schulz

المصدر: Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, School age child, Ataxia, business.industry, medicine, Disease, medicine.symptom, business, Regression

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5e162bc2d05f1835a251e5bd92bef553
https://doi.org/10.1055/s-0038-1675913