المؤلفون: Kathrin Reetz, Ralf-Dieter Hilgers, Susanne Isfort, Marc Dohmen, Claire Didszun, Kathrin Fedosov, Jennifer Kistermann, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Thomas Klockgether, Massimo Pandolfo, Rudolf Korinthenberg, Philip Lavin, Geert Molenberghs, Vincenzo Libri, Paola Giunti, Richard Festenstein, Jörg B. Schulz, the EFACTS or NICOFA study group

المصدر: Neurological Research and Practice, Vol 1, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: Clinical study design, Clinical trials, Ataxia, Outcome, Frataxin, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s42466-019-0038-9; https://doaj.org/toc/2524-3489

URL الوصول: https://doaj.org/article/bd386c9aed904b989f26c530d6b49d63

المؤلفون: Alain Martelli, Lisa S. Friedman, Laurence Reutenauer, Nadia Messaddeq, Susan L. Perlman, David R. Lynch, Kathrin Fedosov, Jörg B. Schulz, Massimo Pandolfo, Hélène Puccio

المصدر: Disease Models & Mechanisms, Vol 5, Iss 6, Pp 860-869 (2012)

مصطلحات موضوعية: Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/5/6/860; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/1b4609d7de1d4f47ae9e010f40dc8b22

المؤلفون: Hayer, Stefanie Nicole Liepelt, Inga Barro, Christian Wilke, Carlo Kuhle, Jens Martus, Peter Schoels, Ludger Schulz, Joerg Bernhard Reetz, Kathrin Fedosov, Kathrin Didszun, Claire Klockgether, Thomas Giordano, Ilaria Pandolfo, Massimo Depondt, Chantal Rai, Myriam Boesch, Sylvia and Nachbauer, Wolfgang Eigentler, Andreas Indelicato, Elisabetta and Giunti, Paola Parkinson, Michael Manso, Katarina and Thomas-Black, Gilbert Garcia-Moreno, Hector Solanky, Nita and Abeti, Rosella Polke, James Labrum, Robin Garrido, Rodriguez de Rivera Francisco Javier Mascias, Javier Velasco, Sanchez Sara and Garcia, Secades Sergio Mariotti, Caterina Nanetti, Lorenzo and Castaldo, Anna Mongelli, Alessia Fichera, Mario and Klopstock, Thomas Karin, Ivan Stendel, Claudia Radelfahr, Florentine Durr, Alexandra Biet, Marie Charles, Perrine and Ewenczyk, Claire Just, Jennifer Koutsis, Georgios Walsh, Richard Bertini, Enrico EFACTS Study Grp

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::26a4eac9069991e8c2f5312642d61d36
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3189269

المؤلفون: Kathrin Reetz, Wolfgang Nachbauer, Ana Sofia Costa, Thomas Klopstock, Marta Panzeri, Alexandra Durr, Michael H Parkinson, Katrin Bürk, Javier Arpa, Jörg B. Schulz, Lorenzo Nanetti, Kathrin Fedosov, Manuel Dafotakis, Chantal Depondt, Imis Dogan, Thomas Klockgether, Massimo Pandolfo, Sylvia Boesch, Perrine Charles, Ilaria Giordano, Ludger Schöls, Jennifer Müller vom Hagen, Ivan Karin, Paola Giunti, Mary G. Sweeney, Irene Sanz-Gallego, Caterina Mariotti

المصدر: The lancet / Neurology 14(2), 174-182 (2015). doi:10.1016/S1474-4422(14)70321-7

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, methods [Translational Research, Biomedical], Ataxia, Adolescent, Databases, Factual, Late onset, Cohort Studies, Translational Research, Biomedical, Young Adult, Trinucleotide Repeats, diagnosis [Friedreich Ataxia], Activities of Daily Living, medicine, Humans, ddc:610, methods [Translational Medical Research], Longitudinal Studies, Prospective Studies, Child, Prospective cohort study, Aged, biology, epidemiology [Friedreich Ataxia], epidemiology [Europe], Middle Aged, medicine.disease, genetics [Friedreich Ataxia], Europe, Cross-Sectional Studies, Friedreich Ataxia, genetics [Trinucleotide Repeats], Cohort, Spinocerebellar ataxia, Physical therapy, Frataxin, biology.protein, Female, Neurology (clinical), Age of onset, medicine.symptom, Psychology, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ef77d56307a492212ba576c4562fbdb
https://doi.org/10.1016/s1474-4422(14)70321-7

المؤلفون: Imis Dogan, Chantal Depondt, Manuel Dafotakis, Sandra Benaich, Ralf-Dieter Hilgers, Paola Giunti, Dagmar Timmann, Perrine Charles, Jörg B. Schulz, Lorenzo Nanetti, Katrin Bürk, Claire Didszun, Claire Ewenczyk, Ummehan Ermis, Marta Panzeri, Myriam Rai, Ludger Schöls, Michael H Parkinson, Wolfgang Nachbauer, Massimo Pandolfo, Kathrin Reetz, Caterina Mariotti, Ilaria Giordano, Claudia Stendel, Sylvia Boesch, Marie-Lorraine Monin, Thomas Klockgether, Ivan Karin, Kathrin Fedosov, Javier Arpa, Andreas Eigentler, Irene Sanz-Gallego, Mary G. Sweeney, Christiane Neuhofer, Anna Castaldo, Jennifer Müller vom Hagen, Francisco Javier Rodriguez de Rivera, Julia Wolf, Thomas Klopstock, Alexandra Durr

المصدر: The lancet / Neurology 15(13), 1346-1354 (2016). doi:10.1016/S1474-4422(16)30287-3
The lancet / Neurology Neurology 15(13), 1346-1354 (2016). doi:10.1016/S1474-4422(16)30287-3

مصطلحات موضوعية: 0301 basic medicine, Gerontology, Adult, Male, Pediatrics, medicine.medical_specialty, Ataxia, physiopathology [Friedreich Ataxia], Severity of Illness Index, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Severity of illness, Activities of Daily Living, diagnosis [Friedreich Ataxia], Outcome Assessment, Health Care, Clinical endpoint, Medicine, Humans, ddc:610, Registries, Age of Onset, business.industry, Middle Aged, medicine.disease, Prognosis, genetics [Friedreich Ataxia], Clinical trial, Europe, 030104 developmental biology, Friedreich Ataxia, Cohort, Spinocerebellar ataxia, Disease Progression, Female, Neurology (clinical), medicine.symptom, Age of onset, business, 030217 neurology & neurosurgery, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2815590671fafeddeba2f5c49a05e8ea

المؤلفون: Kathrin Reetz, Cornelius J. Werner, Eugenie Tinnemann, Stefanie Schulz, Dagmar Timmann, Shahram Mirzazade, Thomas Klockgether, Jörg B. Schulz, Kathrin Fedosov, Ilaria Giordano, Imis Dogan, Stefan Heim, Sandro Romanzetti, Ana Sofia Costa

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology 3(8), 572-587 (2016). doi:10.1002/acn3.315

مصطلحات موضوعية: Cerebellum, Ataxia, Medizin, behavioral disciplines and activities, 050105 experimental psychology, White matter, 03 medical and health sciences, 0302 clinical medicine, Medicine, Verbal fluency test, 0501 psychology and cognitive sciences, ddc:610, business.industry, Working memory, General Neuroscience, 05 social sciences, Neuropsychology, 3. Good health, medicine.anatomical_structure, nervous system, Neurology (clinical), medicine.symptom, business, Neurocognitive, Neuroscience, 030217 neurology & neurosurgery, Motor cortex, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7850b44a72532d1a6a14ebde75038a93
https://www.ncbi.nlm.nih.gov/pubmed/27606341

المؤلفون: Massimo Pandolfo, Hélène Puccio, Laurence Reutenauer, Lisa S. Friedman, David A. Lynch, Nadia Messaddeq, Jörg B. Schulz, Alain Martelli, Kathrin Fedosov, Susan Perlman

المصدر: Disease Models & Mechanisms; Vol 5
Disease Models & Mechanisms
Disease Models and Mechanisms
Disease Models & Mechanisms, Vol 5, Iss 6, Pp 860-869 (2012)
Disease models & mechanisms : DMM 5(6), 860-869 (2012). doi:10.1242/dmm.009829

مصطلحات موضوعية: Male, lcsh:Medicine, Medicine (miscellaneous), medicine.disease_cause, Cohort Studies, Mice, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), Iron-Binding Proteins, Neoplasms, Genetics, 0303 health sciences, Iron-binding proteins, Sciences bio-médicales et agricoles, Phenotype, Liver regeneration, 3. Good health, Liver, Organ Specificity, Female, medicine.symptom, lcsh:RB1-214, Research Article, Ataxia, Neuroscience (miscellaneous), Biology, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Sensory ataxia, lcsh:Pathology, medicine, Animals, Humans, 030304 developmental biology, Integrases, lcsh:R, Cancer, medicine.disease, Survival Analysis, Liver Regeneration, Mice, Inbred C57BL, Disease Models, Animal, Friedreich Ataxia, Hepatocytes, Cancer research, Frataxin, biology.protein, Carcinogenesis, Gene Deletion, 030217 neurology & neurosurgery

وصف الملف: 1 full-text file(s): application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3e74f4e18a5ab273d1ba8ca8288fed4