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المؤلفون: Maria L. Escolar, Neal Hermanowicz, María José Martí, Giovanna Zorzi, Graeme A. M. Nimmo, Laura Tochen, Saadet Mercimek-Andrews, Almut Turid Bischoff, Jamie L. Fraser, Hyder A. Jinnah, Tomasz Kmieć, Laura Cif, Victoria Gonzalez, Robert Jech, Aleksandar Videnovic, Marta Correa-Vela, Cecilia Bonnet, Feriandas Greblikas, Thomas Klopstock, Belén Pérez-Dueñas, Migvis Monduy, Nora Vanegas-Arroyave, Helle Cecilie Viekilde Pfeiffer, Colleen Burns, Cynthia L. Comella, Emmanuel Roze, Lluís Planellas, Anthony E. Lang, Nivedita Thakur
المساهمون: Institut Català de la Salut, [Klopstock T] Friedrich Baur Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany. German Center for Neurodegenerative Diseases (DZNE), Munich, Munich, Germany. Munich Cluster for Systems Neurology (SyNergy), Munich, Munich, Germany. [Videnovic A] Department of Neurology, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts, USA. [Bischoff AT] Friedrich Baur Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany. [Bonnet C] Department of Neurology, Sorbonne University, AP-HP Salpêtrière Hospital, Paris, France. [Cif L] Department of Neurosurgery, CHRU de Montpellier, Gui de Chauliac Hospital, Montpellier, France. [Comella C] Department of Neurosurgery and Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA. [Correa-Vela M, Perez-Dueñas B] Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Scientia
Movement disorders 36(6), 1342-1352 (2020). doi:10.1002/mds.28392
Movement Disordersمصطلحات موضوعية: 0301 basic medicine, genetics [Pantothenate Kinase-Associated Neurodegeneration], medicine.medical_specialty, drug therapy [Pantothenate Kinase-Associated Neurodegeneration], Movement disorders, Neurologia pediàtrica, Otros calificadores::Otros calificadores::/farmacoterapia [Otros calificadores], Regular Issue Articles, Placebo, Other subheadings::Other subheadings::/drug therapy [Other subheadings], Pantothenic Acid, Pantothenate kinase-associated neurodegeneration, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Double-Blind Method, law, pantothenate kinase-associated neurodegeneration, Internal medicine, analogs & derivatives [Pantothenic Acid], fosmetpantotenate, Activities of Daily Living, Vitamines B, medicine, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::neurodegeneración asociada a pantotenato cinasa [ENFERMEDADES], Humans, ddc:610, Adverse effect, Research Articles, Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Pantothenate Kinase-Associated Neurodegeneration [DISEASES], Pantothenate Kinase-Associated Neurodegeneration, pantothenate kinase–associated neurodegeneration, treatment, business.industry, Incidence (epidemiology), medicine.disease, Confidence interval, 030104 developmental biology, Neurology, Respiratory failure, randomized controlled trial, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Research Article
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5db53d3f026d8a4d72e0308c80ed988
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المؤلفون: Thomas Klopstock, M. Fichera, Francisco Javier Rodríguez de Rivera Garrido, Caterina Mariotti, Almut Turid Bischoff, Claudia Stendel, Christian Hohenfeld, Alexandra Durr, Anna Castaldo, Ilaria Giordano, Stefanie N. Hayer, Alessia Mongelli, Marie Lorraine Monin, Massimo Pandolfo, Kathrin Reetz, Katarina Manso, Gessica Vasco, Mar O'Callaghan, Nita Solanky, Matthias Amprosi, Claire Ewenczyk, Florian Holtbernd, Wolfgang Nachbauer, Sylvia Boesch, Enrico Bertini, Francesc Palau, Cinzia Gellera, Elisabetta Indelicato, Florentine Radelfahr, Imis Dogan, Marianthi Breza, Ludger Schöls, Christian Rummey, Michael H Parkinson, Andreas Eigentler, Jörg B. Schulz, Lorenzo Nanetti, Claire Didszun, Paola Giunti, Gilbert Thomas-Black, Nikolina Brcina, Marie Biet, Ralf-Dieter Hilgers, Robyn Labrum, Thomas Klockgether, Myriam Rai, Georgios Koutsis
المساهمون: Reetz, K, Dogan, I, Hilgers, R, Giunti, P, Parkinson, M, Mariotti, C, Nanetti, L, Durr, A, Ewenczyk, C, Boesch, S, Nachbauer, W, Klopstock, T, Stendel, C, Rodriguez de Rivera Garrido, F, Rummey, C, Schols, L, Hayer, S, Klockgether, T, Giordano, I, Didszun, C, Rai, M, Pandolfo, M, Schulz, J, Labrum, R, Thomas-Black, G, Manso, K, Solanky, N, Gellera, C, Mongelli, A, Castaldo, A, Fichera, M, Palau, F, O'Callaghan, M, Biet, M, Monin, M, Eigentler, A, Indelicato, E, Amprosi, M, Radelfahr, F, Bischoff, A, Holtbernd, F, Brcina, N, Hohenfeld, C, Koutsis, G, Breza, M, Bertini, E, Vasco, G
المصدر: The lancet
/ Neurology 20(5), 362-372 (2021). doi:10.1016/S1474-4422(21)00027-2 مصطلحات موضوعية: Registrie, 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Ataxia, Time Factors, Time Factor, pathology [Friedreich Ataxia], physiopathology [Friedreich Ataxia], Late onset, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Activities of Daily Living, medicine, Humans, ddc:610, Registries, Mobility Limitation, business.industry, Middle Aged, complications [Friedreich Ataxia], Clinical trial, Europe, 030104 developmental biology, Friedreich Ataxia, Ambulatory, Cohort, Disease Progression, Observational study, Female, Neurology (clinical), Cohort Studie, Age of onset, medicine.symptom, business, 030217 neurology & neurosurgery, Human, Cohort study
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e639b3686431e2707c99907b08121ea
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المؤلفون: Jan De Bleecker, David Creytens, Matias Wagner, Sophie Walraedt, Christiane Neuhofer, Kirsten A. Wunderlich, Almut Turid Bischoff, Irina Balikova, Gabriele Holtappels, Bart P. Leroy, Pietro Farinelli, Thalia Van Laethem, Konstantinos Nikopoulos, Thomas Klopstock, Frank Peelman, Claus Bachert, Lara Derycke, Nina Lambrechts, Sarah De Jaegere, Jan Gerris, Riet De Rycke, Lotte B. Pedersen, Frauke Coppieters, Carlo Rivolta, Giulia Ascari, Elfride De Baere, Toon Rosseel, Pernille Martens, Brecht Guillemyn, Jo Van Dorpe, Olga Krysko
المصدر: Human mutation 41(5), 998-1011 (2020). doi:10.1002/humu.23993
Human Mutation
HUMAN MUTATION
Ascari, G, Peelman, F, Farinelli, P, Rosseel, T, Lambrechts, N, Wunderlich, K A, Wagner, M, Nikopoulos, K, Martens, P, Balikova, I, Derycke, L, Holtappels, G, Krysko, O, Van Laethem, T, De Jaegere, S, Guillemyn, B, De Rycke, R, De Bleecker, J, Creytens, D, Van Dorpe, J, Gerris, J, Bachert, C, Neuhofer, C, Walraedt, S, Bischoff, A, Pedersen, L B, Klopstock, T, Rivolta, C, Leroy, B P, De Baere, E & Coppieters, F 2020, ' Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility ', Human Mutation, vol. 41, no. 5, pp. 998-1011 . https://doi.org/10.1002/humu.23993مصطلحات موضوعية: Male, Models, Molecular, genetics [Hearing Loss], Protein Conformation, Usher syndrome, DNA Mutational Analysis, Cell Cycle Proteins, Compound heterozygosity, male infertility, Male infertility, Medicine and Health Sciences, Missense mutation, Genetics(clinical), diagnosis [Hearing Loss], founder, Genetics (clinical), Research Articles, Genetics, Genetics & Heredity, 0303 health sciences, 030305 genetics & heredity, diagnosis [Cone-Rod Dystrophies], Syndrome, Middle Aged, diagnosis [Infertility, Male], Founder Effect, ddc, Pedigree, Phenotype, metabolism [Cilia], genetics [Cone-Rod Dystrophies], genetics [Infertility, Male], Female, Life Sciences & Biomedicine, metabolism [Fibroblasts], Research Article, missense, GENES, Adolescent, Genotype, PROTEINS, Mutation, Missense, ultrastructure [Cilia], Biology, SPAG17, cone-rod dystrophy with hearing loss (CRDHL), 03 medical and health sciences, Structure-Activity Relationship, Exome Sequencing, medicine, CEP78, Humans, genetics [Cell Cycle Proteins], Cilia, ddc:610, Allele, Hearing Loss, Infertility, Male, Alleles, 030304 developmental biology, Science & Technology, COMPLEX, MUTATIONS, Haplotype, cilia, Dystrophy, Biology and Life Sciences, Fibroblasts, medicine.disease, CENTROSOMES, cone‐rod dystrophy with hearing loss (CRDHL), MODEL, chemistry [Cell Cycle Proteins], Cone-Rod Dystrophies, Founder effect
وصف الملف: application/pdf; Print-Electronic