المؤلفون: Sonja Schönecker, Christiane Neuhofer, Markus Otto, Albert Ludolph, Jan Kassubek, Bernhard Landwehrmeyer, Sarah Anderl-Straub, Elisa Semler, Janine Diehl-Schmid, Catharina Prix, Christian Vollmar, Juan Fortea, Deutsches FTLD-Konsortium, Hans-Jürgen Huppertz, Thomas Arzberger, Dieter Edbauer, Berend Feddersen, Marianne Dieterich, Matthias L. Schroeter, Alexander E. Volk, Klaus Fließbach, Anja Schneider, Johannes Kornhuber, Manuel Maler, Johannes Prudlo, Holger Jahn, Tobias Boeckh-Behrens, Adrian Danek, Thomas Klopstock, Johannes Levin, Carola Roßmeier, Franziska Albrecht, Katharina Schümberg, Sandrine Bisenius

المصدر: Frontiers in Aging Neuroscience, Vol 10 (2018)

مصطلحات موضوعية: C9orf72, frontotemporal dementia, amyotrophic lateral sclerosis, atlas based volumetric MRI analysis, thalamus, cerebellum, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fnagi.2018.00045/full; https://doaj.org/toc/1663-4365

URL الوصول: https://doaj.org/article/01f120886008472ab3b584a1d9e1e46a

المؤلفون: Peter Burfeind, Peter Nürnberg, Bernd Wilken, Yun Li, Janine Altmüller, Alexej Knaus, Bernd Wollnik, Rudolf Funke, Christiane Neuhofer, Silke Pauli

المصدر: Molecular Syndromology. 11:30-37

مصطلحات موضوعية: 0303 health sciences, business.industry, 030305 genetics & heredity, Rufinamide, Bioinformatics, medicine.disease, Phenotype, Germline, Hypotonia, Vigabatrin, 3. Good health, 03 medical and health sciences, Epilepsy, Genetics, Medicine, Missense mutation, medicine.symptom, business, Genetics (clinical), 030304 developmental biology, medicine.drug, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::48fb9105f45d3a0747f327df5798866e
https://doi.org/10.1159/000505797

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.23993

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::196f4251d9acc06335a2b6535feb8fc9

المؤلفون: Peter Berlit, Jörg Berrouschot, Christian Bischoff, Frank Block, Bessime Bozkurt, Eva Maria Craemer, Richard Dodel, Peter Flachenecker, Herta Flor, Christiana Franke, Anna Furmaniak, Thomas Gasser, Carl-Albrecht Haensch, Karim Hajjar, Lutz Harms, Christoph Heesen, Anna Heidbreder, Peter Henningsen, Andreas Hermann, Ulrich Herrlinger, Elmar Höfner, Tim Patrick Jürgens, Vera C. Keil, Ingo Kilimann, Christoph Kleinschnitz, Thomas Klopstock, Samuel Knauß, Wolfgang Köhler, Martin Köhrmann, Markus Krämer, Helmar C. Lehmann, Karina Limburg, Anke Lührs, Jürgen Meixensberger, Uta Meyding-Lamadé, Ulf Nestler, Christiane Neuhofer, Iris-Katharina Penner, Johannes Prudlo, Harald Prüß, Anne Rahn, Eckhard Rickels, Florian Rimmele, Paulus Rommer, Niklas Schäfer, Insa Schiffmann, Marc Schlamann, Ilka Schneider, Benedikt Schoser, Wilhelm Schulte-Mattler, Andreas Schulze-Bonhage, Jörn Peter Sieb, Werner Stenzel, Alexander Storch, Stefan Teipel, Regina Trollmann, Hayrettin Tumani, Manfred Uhr, Uwe Walter, Mike P. Wattjes, Jörg R. Weber, Katja Werheid, Peter Young, Uwe Klaus Zettl, Walter Zieglgänsberger

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::78d929d75ec97617fb9b5f9e51a00a11
https://doi.org/10.1016/b978-3-437-21882-8.01002-1

المؤلفون: Claudia B. Catarino, Klaus Seelos, Thomas Klopstock, Christiane Neuhofer, Heinrich Schmidt, Tobias B. Haack, Bader Alhaddad

المصدر: Neurology / Genetics 6(5), e500-(2020). doi:10.1212/NXG.0000000000000500
Neurol. Genet. 6:e500 (2020)

مصطلحات موضوعية: Sanger sequencing, Dystonia, 0303 health sciences, business.industry, medicine.disease, Bioinformatics, Frameshift mutation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Neurodevelopmental disorder, Neuroimaging, Intellectual disability, Mutation (genetic algorithm), symbols, medicine, Neurology (clinical), ddc:610, business, Developmental regression, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a8b64837774648584760c30f6411ffe

المؤلفون: Thomas Klopstock, Zuhal Yapici, Federica Zibordi, Penelope Hogarth, Christine Aguilar, Anna Basu, Fernando Tricta, Patrick F. Chinnery, Andrew M. Blamire, Petr Dusek, Michael Spino, Nardo Nardocci, Ivan Karin, Susan J. Hayflick, Ian J. Wilson, Hannah E. Steele, Feng Zhao, Rita Horvath, Giovanna Zorzi, Elliott Vichinsky, Tomasz Kmieć, Christiane Neuhofer, Caroline Fradette, Boriana Büchner, Bernadette Kalman, Clemens Küpper, Lynne Neumayr

المصدر: The lancet / Neurology 18(7), 631-642 (2019). doi:10.1016/S1474-4422(19)30142-5

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, drug therapy [Pantothenate Kinase-Associated Neurodegeneration], Adolescent, Neutropenia, Placebo, Iron Chelating Agents, Pantothenate kinase-associated neurodegeneration, law.invention, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Randomized controlled trial, Double-Blind Method, law, Internal medicine, therapeutic use [Deferiprone], Medicine, Humans, Deferiprone, ddc:610, Adverse effect, Child, Pantothenate Kinase-Associated Neurodegeneration, business.industry, therapeutic use [Iron Chelating Agents], adverse effects [Deferiprone], Middle Aged, medicine.disease, Regimen, 030104 developmental biology, Treatment Outcome, chemistry, Child, Preschool, Disease Progression, Body region, Female, Neurology (clinical), business, adverse effects [Iron Chelating Agents], 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08486a4e2873ef86e448e2e69a5ed05f

المؤلفون: Claudia Stendel, Christiane Neuhofer, Elisa Floride, Shi Yuqing, Rebecca D. Ganetzky, Joohyun Park, Peter Freisinger, Cornelia Kornblum, Stephanie Kleinle, Ludger Schöls, Felix Distelmaier, Georg M. Stettner, Boriana Büchner, Marni J. Falk, Johannes A. Mayr, Matthis Synofzik, Angela Abicht, Tobias B. Haack, Holger Prokisch, Saskia B. Wortmann, Kei Murayama, Fang Fang, Thomas Klopstock

المصدر: Neurology Genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=r3c4b2081b22::7dc4648f1b420c9bc38a8e5359057825

المؤلفون: Kei Murayama, Marni J. Falk, Joohyun Park, Felix Distelmaier, Holger Prokisch, Shi Yuqing, Matthis Synofzik, Stephanie Kleinle, Rebecca D. Ganetzky, Peter Freisinger, Elisa Floride, Boriana Büchner, Johannes A. Mayr, Tobias B. Haack, Ludger Schöls, Saskia B. Wortmann, Cornelia Kornblum, Thomas Klopstock, Georg M. Stettner, Claudia Stendel, Fang Fang, Angela Abicht, Christiane Neuhofer

المصدر: Neurology Genetics. 6:e393

مصطلحات موضوعية: medicine.medical_specialty, Ataxia, Asymptomatic, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Retinitis pigmentosa, medicine, Genetics (clinical), 030304 developmental biology, 0303 health sciences, biology, business.industry, medicine.disease, Heteroplasmy, 3. Good health, MT-ATP6, Cohort, biology.protein, Neurology (clinical), medicine.symptom, Differential diagnosis, business, 030217 neurology & neurosurgery, Retinopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7dc4648f1b420c9bc38a8e5359057825
https://doi.org/10.1212/nxg.0000000000000393

المؤلفون: Peter Wehner, Oliver Bartsch, Janika Möller, Roser Ufartes, Ina Schanze, Monica T. Y. Wong, Conny M. A. van Ravenswaaij-Arts, Janina Schwenty-Lara, Annette Borchers, Andreas Tzschach, Luisa Freese, Christiane Neuhofer, Silke Pauli

المساهمون: Clinical Cognitive Neuropsychiatry Research Program (CCNP)

المصدر: Human Molecular Genetics, 27(8), 1343-1352. Oxford University Press

مصطلحات موضوعية: 0301 basic medicine, Embryo, Nonmammalian, Kallmann syndrome, PHENOTYPIC SPECTRUM, medicine.disease_cause, Severity of Illness Index, Epigenesis, Genetic, Pathogenesis, AXON GUIDANCE, CHD7, CHARGE syndrome, Xenopus laevis, 0302 clinical medicine, HYPOGONADOTROPIC HYPOGONADISM, Promoter Regions, Genetic, Genetics (clinical), Genetics, Mutation, General Medicine, Phenotype, DNA-Binding Proteins, NEURAL CREST CELLS, Neural Crest, Homeobox Protein Nkx-2.5, MIGRATION, Biology, 03 medical and health sciences, Hypogonadotropic hypogonadism, KALLMANN-SYNDROME, medicine, Animals, Humans, Epigenetics, SHORT STATURE, Molecular Biology, Loss function, MUTATIONS, Genetic Complementation Test, DNA Helicases, Semaphorin-3A, Kallmann Syndrome, medicine.disease, Disease Models, Animal, 030104 developmental biology, HEK293 Cells, XENOPUS-EMBRYOS, CHARGE Syndrome, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fee26469e432a6c36752cd173555578
https://research.rug.nl/en/publications/93dbc437-c667-4685-a4ba-ea2b443d45b0

المؤلفون: Sophie Tezenas du Montcel, Chantal M. E. Tallaksen, Stefan Vielhaber, Judith van Gaalen, Gabriella Silvestri, Sylvia Boesch, Jun-Suk Kang, Judith Machts, Ilaria Giordano, Florian Harmuth, Dagmar Timmann, Bart P.C. van de Warrenburg, Peter Bauer, Thomas Klopstock, Marc Sturm, Matthis Synofzik, Ludger Schöls, Christiane Neuhofer, Heike Jacobi, Marcella Masciullo, Christoph Kamm, Alessandro Filla, Christos Ganos, Thomas Klockgether, Ales Dudesek, Iselin M Wedding, Andreas Eigentler, Brigitte Katrin Paap

المساهمون: Giordano, Ilaria, Harmuth, Florian, Jacobi, Heike, Paap, Brigitte, Vielhaber, Stefan, Machts, Judith, Schöls, Ludger, Synofzik, Matthi, Sturm, Marc, Tallaksen, Chantal, Wedding, Iselin M., Boesch, Sylvia, Eigentler, Andrea, Van De Warrenburg, Bart, Van Gaalen, Judith, Kamm, Christoph, Dudesek, Ale, Kang, Jun-Suk, Timmann, Dagmar, Silvestri, Gabriella, Masciullo, Marcella, Klopstock, Thoma, Neuhofer, Christiane, Ganos, Christo, Filla, Alessandro, Bauer, Peter, Tezenas Du Montcel, Sophie, Klockgether, Thomas

المصدر: Neurology, 89, 1043-1049
Neurology 89(10), 1043-1049 (2017). doi:10.1212/WNL.0000000000004311
Neurology, 89, 10, pp. 1043-1049

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Pathology, Ataxia, DNA Mutational Analysis, Medizin, medicine.disease_cause, Severity of Illness Index, Follow-Up Studie, DNA Mutational Analysi, physiopathology [Ataxia], 03 medical and health sciences, 0302 clinical medicine, Atrophy, Internal medicine, Severity of illness, medicine, Humans, ddc:610, Aged, Mutation, Neurodegenerative Disease, business.industry, physiopathology [Neurodegenerative Diseases], Neurodegenerative Diseases, genetics [Ataxia], Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Europe, Clinical trial, Natural history, Settore MED/26 - NEUROLOGIA, Female, Follow-Up Studies, Neurology (clinical), 030104 developmental biology, genetics [Neurodegenerative Diseases], Cohort, Etiology, medicine.symptom, business, 030217 neurology & neurosurgery, Human

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b26924957c36a5e766822ef292ca5f7f
http://hdl.handle.net/2066/178210