المؤلفون: Vincens Kaelin, Alexis Paul Romain Terrapon, Anna Zeitlberger, Svenja Maschke, Sara Bonasia, Ahmed El-Garci, Oliver Bozinov, Marian Neidert, Isabel Hostettler

المصدر: Brain and Spine, Vol 3, Iss , Pp 102040- (2023)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2772529423003284Test; https://doaj.org/toc/2772-5294Test

الوصول الحر: https://doaj.org/article/544a0738635648708a2c1c6b127ee6a0Test

المؤلفون: Suran Nethisinghe, Wei N. Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden, Elisabeth Rosser, Patricia Limousin, Angus Kennedy, Michael P. Lunn, Kailash P. Bhatia, Nicholas W. Wood, John Hardy, James M. Polke, Liana Veneziano, Alfredo Brusco, Mary B. Davis, Paola Giunti

المصدر: Frontiers in Cellular Neuroscience, Vol 12 (2018)

مصطلحات موضوعية: PolyQ, ataxia, CAG repeat expansions, SCA17, neurodegeneration, genetic counseling, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fncel.2018.00429/fullTest; https://doaj.org/toc/1662-5102Test

الوصول الحر: https://doaj.org/article/15eee59640234cc3a342ef919bb83ae9Test

المؤلفون: Ahmed El-Garci, Olivia Zindel-Geisseler, Noemi Dannecker, Yannick Rothacher, Ladina Schlosser, Anna Zeitlberger, Julia Velz, Martina Sebök, Noemi Eggenberger, Adrien May, Philippe Bijlenga, Ursula Guerra-Lopez, Rodolfo Maduri, Valérie Beaud, Daniele Starnoni, Alessio Chiappini, Stefania Rossi, Thomas Robert, Sara Bonasia, Johannes Goldberg, Christian Fung, David Bervini, Klemens Gutbrod, Nicolai Maldaner, Severin Früh, Marc Schwind, Oliver Bozinov, Marian C. Neidert, Peter Brugger, Emanuela Keller, Menno R. Germans, Luca Regli, Isabel C. Hostettler, Martin N. Stienen, Niklaus Krayenbühl, Giuseppe Esposito, Alessandro Moiraghi, Alda Rocca, Martin A. Seule, Astrid Weyerbrock, Martin Hlavica, Mandy Mueller

المصدر: Neurosurgical Focus. 54:E3

مصطلحات موضوعية: Surgery, Neurology (clinical), General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::26b77de383380d24fe2a38b14ce692bdTest
https://doi.org/10.3171/2023.1.focus22638Test

المؤلفون: Nicolai Maldaner, Anna Zeitlberger, Michal Ziga, Oliver Bozinov, Luca Regli, Martin N. Stienen

المصدر: Neurosurgery. 69:31-31

مصطلحات موضوعية: Surgery, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::be068a260a3d06622ca8b15a2c04bd29Test
https://doi.org/10.1227/neu.0000000000002375_126Test

المؤلفون: Paola Giunti, Colm Peelo, Rosella Abeti, Robert Sarkany, Alan R. Lehmann, Hiva Fassihi, Anna Zeitlberger

المصدر: Br J Pharmacol

مصطلحات موضوعية: 0301 basic medicine, Pharmacology, Xeroderma Pigmentosum, Ataxia, Xeroderma pigmentosum, DNA repair, business.industry, Neurodegeneration, Cancer, Neurodegenerative Diseases, Dysfunctional family, Disease, medicine.disease, Themed Section: Review Articles, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine, Humans, medicine.symptom, business, 030217 neurology & neurosurgery, Nucleotide excision repair

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3540fa765be551c013f73e9bb8653893Test
https://doi.org/10.1111/bph.14557Test

المؤلفون: Suran Nethisinghe, Anna Zeitlberger, Paola Giunti, Heather Ging

المصدر: Expert Opinion on Orphan Drugs. 6:203-217

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Congenital cerebellar ataxia, business.industry, Health Policy, Computational biology, medicine.disease, humanities, Novel gene, 03 medical and health sciences, Hereditary Ataxias, 030104 developmental biology, 0302 clinical medicine, Hereditary ataxia, Gene panel, Anticipation (genetics), medicine, Spinocerebellar ataxia, Pharmacology (medical), business, Pharmacology, Toxicology and Pharmaceutics (miscellaneous), Machado–Joseph disease, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5b9f36298ad16372645659bf120f2cc4Test
https://doi.org/10.1080/21678707.2018.1444477Test

المؤلفون: Rosella Abeti, Anna Zeitlberger, Colm Peelo, Hiva Fassihi, Robert P E Sarkany, Alan Lehmann, Paola Giunti

مصطلحات موضوعية: Biomedical and clinical sciences, Oncology and carcinogenesis, Pharmacology and pharmaceutical sciences, Humans, Neurodegenerative Diseases, Xeroderma Pigmentosum, 32 Biomedical and Clinical Sciences, 3211 Oncology and Carcinogenesis, Rare Diseases, Cancer, Neurosciences, Orphan Drug, 2 Aetiology, 2.1 Biological and endogenous factors, Neurological, 3 Good Health and Well Being, 1115 Pharmacology and Pharmaceutical Sciences, Pharmacology & Pharmacy, 3214 Pharmacology and pharmaceutical sciences

العلاقة: 10779/uos.25416220.v1; https://figshare.com/articles/journal_contribution/Xeroderma_pigmentosum_overview_of_pharmacology_and_novel_therapeutic_strategies_for_neurological_symptoms/25416220Test

الإتاحة: https://figshare.com/articles/journal_contribution/Xeroderma_pigmentosum_overview_of_pharmacology_and_novel_therapeutic_strategies_for_neurological_symptoms/25416220Test

المؤلفون: Suran Nethisinghe, Wei N. Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden, Elisabeth Rosser, Patricia Limousin, Angus Kennedy, Michael P. Lunn, Kailash P. Bhatia, Nicholas W. Wood, John Hardy, James M. Polke, Liana Veneziano, Alfredo Brusco, Mary B. Davis, Paola Giunti

مصطلحات موضوعية: Cell Biology, Neuroscience, Cellular Nervous System, Central Nervous System, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), Protein Trafficking, PolyQ, ataxia, CAG repeat expansions, SCA17, neurodegeneration, genetic counseling

العلاقة: https://figshare.com/articles/dataset/Table_3_Complexity_of_the_Genetics_and_Clinical_Presentation_of_Spinocerebellar_Ataxia_17_XLSX/7377077Test

الإتاحة: https://doi.org/10.3389/fncel.2018.00429.s005Test
https://figshare.com/articles/dataset/Table_3_Complexity_of_the_Genetics_and_Clinical_Presentation_of_Spinocerebellar_Ataxia_17_XLSX/7377077Test

المؤلفون: Suran Nethisinghe, Wei N. Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden, Elisabeth Rosser, Patricia Limousin, Angus Kennedy, Michael P. Lunn, Kailash P. Bhatia, Nicholas W. Wood, John Hardy, James M. Polke, Liana Veneziano, Alfredo Brusco, Mary B. Davis, Paola Giunti

مصطلحات موضوعية: Cell Biology, Neuroscience, Cellular Nervous System, Central Nervous System, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), Protein Trafficking, PolyQ, ataxia, CAG repeat expansions, SCA17, neurodegeneration, genetic counseling

العلاقة: https://figshare.com/articles/figure/Image_1_Complexity_of_the_Genetics_and_Clinical_Presentation_of_Spinocerebellar_Ataxia_17_TIF/7377065Test

الإتاحة: https://doi.org/10.3389/fncel.2018.00429.s001Test
https://figshare.com/articles/figure/Image_1_Complexity_of_the_Genetics_and_Clinical_Presentation_of_Spinocerebellar_Ataxia_17_TIF/7377065Test

المؤلفون: Prof. Dr. Astrid Weyerbrock, Klinik für Neurochirurgie, Kantonsspital St. Gallen, PD Dr. med. Martin Stienen, Klinik für Neurochirurgie, Universitätsspital Zürich, PD Dr. med. David Bellut, Klinik für Neurochirurgie, Universitätsspital Zürich, med. pract. Markéta Sosnová, Klinik für Neurochirurgie, Kantonsspital St. Gallen, med. pract. Michal Ziga, Klinik für Neurochirurgie, Kantonsspital St. Gallen, med. pract.Valentin Steinsiepe, Klinik für Neurochirurgie, Kantonsspital St. Gallen, Dr. med. Anna Zeitlberger, Klinik für Neurochirurgie, Kantonsspital St. Gallen, PD Dr. med. Oliver Gautschi, Neuro- und Wirbelsäulen Zentrum Zentralschweiz, Luzern

المساهمون: Nicolai Maldaner, Principal Investigator

المصدر: Stnen MN, Ho AL, Staartjes VE, Maldaner N, Veeravagu A, DesaA, GautschOP, Bellut D, ReglL, Ratlf JK, Park J. Objecte measures of functnal pament for degenerate deases of the lumbar spe: a systemat revw of the lerature. Spe J. 2019 Jul;19(7):1276-1293. do 10.1016/j.spee.2019.02.014. Epub 2019 Mar 2.
Stienen MN, Maldaner N, Joswig H, Corniola MV, Bellut D, Prommel P, Regli L, Weyerbrock A, Schaller K, Gautschi OP. Objective functional assessment using the "Timed Up and Go" test in patients with lumbar spinal stenosis. Neurosurg Focus. 2019 May 1;46(5):E4. doi: 10.3171/2019.2.FOCUS18618.
The Six-Minute Walking Test (6WT) and Timed-Up-and-Go (TUG) Test as Measures of Objective Functional Impairment in Patients Undergoing Interlaminar or Transforaminal Epidural Steroid Injection for Lumbar Degenerative Disc Disease (DDD)

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04062942Test