المؤلفون: Lukacs Zoltan, Paulina Nieves Cobos, Stephan Wenninger, Tracey A. Willis, Michela Guglieri, Marc Roberts, Rosaline Quinlivan, David Hilton-Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter-Weigel, Maggie C Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller-Felber, Benedikt Schoser

المصدر: Нервно-мышечные болезни, Vol 6, Iss 3, Pp 24-27 (2019)

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

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/168; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/4ec0d1645281460598905760d4b17f8a

المؤلفون: Carolin Hoyer, Angelika Alonso, Beate Schlotter-Weigel, Michael Platten, Marc Fatar

المصدر: Case Reports in Neurology, Vol 9, Iss 2, Pp 121-126 (2017)

مصطلحات موضوعية: HIV, 4-Aminopyridine, Cerebellar syndrome, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.karger.com/Article/FullText/475544; https://doaj.org/toc/1662-680X

URL الوصول: https://doaj.org/article/7c0fe1b9d5ae4651b126c93322e10605

المؤلفون: Benjamin Hotter, Katherina Eger, Beate Schlotter, Kerstin Becker, Peter Reilich, Isabel Diebold, Ulrike Schön, Hannes Erdmann, Federica Montagnese, Mario Schäff-Vogelsang, Friedrich Stock, Berit Jordan, Angela Abicht

المصدر: Neuromuscular Disorders. 31:123-133

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Ubiquitin-Protein Ligases, Nonsense-mediated decay, Genomics, Disease, Biology, Young Adult, 03 medical and health sciences, Exon, 0302 clinical medicine, Charcot-Marie-Tooth Disease, medicine, Humans, Inheritance Patterns, Gene, Genetic Association Studies, Genetics (clinical), Aged, Genetics, Inheritance (genetic algorithm), Middle Aged, Axons, Pedigree, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Medical genetics, Female, Neurology (clinical), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b414e3a31d4e9f64f3f59994c0d35a8
https://doi.org/10.1016/j.nmd.2020.11.011

المؤلفون: Ernst Walther, Andreas Hermann, Beat M. Frey, Carsten Buhmann, Stefan Evers, Franz Marxreiter, Krassen Nedeltchev, Federica Montagnese, Wolfgang Löscher, Peter Reilich, Hans H. Jung, Wolfgang von Kalckreuth, Beate Schlotter-Weigel, Armin Orth, Carsten Saft, Maja Patricia Mattle-Greminger, Adrian Danek, Beate Mayer, Manfred Hoenig, Zacharias Kohl, Kevin Peikert

المصدر: F: Clinical studies: case reports, observational studies and trials.

مصطلحات موضوعية: Phenocopy, business.industry, Disease, medicine.disease, Bioinformatics, Genotype-phenotype distinction, Chronic granulomatous disease, Neuroacanthocytosis, Cohort, medicine, McLeod syndrome, medicine.symptom, business, Myopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::10337d412f9b610a9e99557b4da24d49
https://doi.org/10.1136/jnnp-2021-ehdn.71

المؤلفون: Wolfgang Löscher, Peter Bauer, Herbert Schreiber, Daniela Karall, Matthias Baumann, Jan Senderek, Birgit Krabichler, Beate Schlotter-Weigel, Dieter Glaeser, Rolf Stucka, Christine Fauth, Tim M. Strom

المصدر: Clinical Genetics. 95:182-186

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Mitochondrial Diseases, Adolescent, 030105 genetics & heredity, Mitochondrial Proteins, Polyneuropathies, Young Adult, 03 medical and health sciences, Internal medicine, Genetics, medicine, Humans, Juvenile, Genetic Predisposition to Disease, Age of Onset, Child, Inner mitochondrial membrane, MPV17, Genetics (clinical), business.industry, Liver Diseases, Membrane Proteins, Peripheral Nervous System Diseases, medicine.disease, Axons, Failure to Thrive, Peripheral, 030104 developmental biology, Axonal sensorimotor polyneuropathy, Endocrinology, Failure to thrive, Mitochondrial DNA depletion syndrome, Heredodegenerative Disorders, Nervous System, Female, Sensorimotor Cortex, medicine.symptom, business, Liver Failure, Homeostasis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca1f4ed548a408f1e6d182db73bc5b0f
https://doi.org/10.1111/cge.13462

المؤلفون: Beate Schlotter-Weigel, Jan Senderek

المصدر: Fortschritte der Neurologie · Psychiatrie. 86:566-574

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, Psychiatry and Mental health, 030104 developmental biology, 0302 clinical medicine, Neurology, Neurology (clinical), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2dc1317807050bed40684a704badcfa7
https://doi.org/10.1055/a-0655-7659

المؤلفون: Ulrike Schara, Jan S. Kirschke, Osama Balousha, Mona Grimmel, Katrin Rupprich, Olaf Riess, Matthias Vorgerd, Tim M. Strom, Mohammed Falna, Marc Sturm, Thomas Meitinger, Bader Alhaddad, Stephan Zierz, Tobias B. Haack, Marcus Deschauer, Beate Schlotter-Weigel, Berit Jordan, Ludger Schöls, Jakob Admard, Ilka Schneider, Martina Kreiß, Joachim Weis, Anastasia Gazou, Cornelia Kornblum, Torsten Kraya, Ghassan Balousha, Holger Hengel

المصدر: Brain 144(2), 574-583 (2021). doi:10.1093/brain/awaa418

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, VWA1 protein, human, Adolescent, Medizin, pathology [Neuromuscular Diseases], Perlecan, medicine.disease_cause, Whole Exome Sequencing, pathology [Muscle, Skeletal], 03 medical and health sciences, 0302 clinical medicine, Von Willebrand factor, Collagen VI, genetics [Extracellular Matrix Proteins], genetics [Neuromuscular Diseases], Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Allele, Child, Exome sequencing, Loss function, VWA1, Mutation, Extracellular Matrix Proteins, biology, business.industry, Muscle weakness, Middle Aged, mutations, Pedigree, 030104 developmental biology, biology.protein, neuromyopathy, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4cbf98596bb6fa8ac11810460b10028
https://www.ncbi.nlm.nih.gov/pubmed/33459760

المؤلفون: Julia Wanschitz, Manuela Wiessner, Rebecca Schüle, Royston Ong, Jennefer N. Kohler, Katharina Kinslechner, Pavel Seeman, Katja Eggermann, Bruno Francou, Marina L. Kennerson, Sabine Rudnik-Schöneborn, Garth Nicholson, Lois Dankwa, Jochen Weishaupt, Wilson Marques, T Deconinck, Tanya Stojkovic, Lisa Abreu, Anja Schirmacher, Jan Senderek, Christian Beetz, Matthis Synofzik, Stephan Iglseder, Susanne Petri, Michaela Auer-Grumbach, Nigel G. Laing, Rita Horvath, Geir J. Braathen, Reinhard Windhager, Petra Lassuthova, Jonathan Baets, Albert Ludolph, Peter De Jonghe, David N. Herrmann, Ingo Kurth, Bianca Dräger, Gianina Ravenscroft, Adriana P. Rebelo, Beate Schlotter-Weigel, Tim M. Strom, Phillipa J. Lamont, Stefan Toegel, Daniela Weinmann, David A. Brenner, Andrzej Kochański, Dagmara Kabzińska, Joline Dalton, David Walk, Carina Fischer, Giulia Ricci, Helle Høyer, Ludger Schoels, Stephan Züchner, Peter Young, Löscher Wolfgang N, Johannes Wagner, Melina Ellis

المساهمون: Dankwa, Lois [0000-0002-0259-9550], Kurth, Ingo [0000-0002-5642-8378], Apollo - University of Cambridge Repository

المصدر: Neurology 95(24), e3163-e3179 (2020). doi:10.1212/WNL.0000000000011132

مصطلحات موضوعية: 0301 basic medicine, Male, Aging, Population, blood [Neprilysin], Disease, Genetic analysis, Whole Exome Sequencing, genetics [Neprilysin], 03 medical and health sciences, 0302 clinical medicine, blood [Hereditary Sensory and Motor Neuropathy], Charcot-Marie-Tooth Disease, blood [Charcot-Marie-Tooth Disease], Exome Sequencing, blood [Aging], Medicine, Humans, Genetic Predisposition to Disease, ddc:610, genetics [Genetic Predisposition to Disease], Allele, Age of Onset, education, Neprilysin, Exome sequencing, Aged, Genetics, education.field_of_study, business.industry, genetics [Hereditary Sensory and Motor Neuropathy], High-Throughput Nucleotide Sequencing, Middle Aged, Phenotype, 030104 developmental biology, Female, Neurology (clinical), genetics [Charcot-Marie-Tooth Disease], Age of onset, business, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery

وصف الملف: application/octet-stream; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd83f458ea8f8c3459dda9f6467c43b7
http://hdl.handle.net/11568/1066057

المؤلفون: J. Andoni Urtizberea, María L. Cuadrado, Isabelle Desguerre, Emmanuelle Lagrue, Michel Fardeau, Carsten G. Bönnemann, Ulrike Reuner, Haluk Topaloglu, Beate Schlotter-Weigel, Susana Quijano-Roy, Maja von der Hagen, Rocio N. Villar-Quiles, Sandra Donkervoort, Denys Chaigne, Nathalie Goemans, Michèle Mayer, Norma B. Romero, Ekkehard Wilichowski, Jaume Colomer, Brigitte Estournet, Corinne Metay, Ulrike Schara, M Stoetter, Pascale Richard, Edoardo Malfatti, Angela M. Kaindl, Ana Ferreiro, David Orlikowski, Anneke van der Kooi, Marianne de Visser, Luciano Merlini, E. Bertini, Jürg Lütschg, Bruno Eymard, Volker Straub, C. Castiglioni, Mustafa A. Salih, Victoria Gonzalez

المساهمون: Neurology, ANS - Neuroinfection & -inflammation

المصدر: Neurology, 95(11), e1512-e1527. Lippincott Williams and Wilkins

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Medizin, Retrospective cohort study, Scoliosis, medicine.disease, 3. Good health, Ophthalmoparesis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Respiratory failure, Internal medicine, Biopsy, Medicine, Neurology (clinical), Young adult, medicine.symptom, business, Myopathy, 030217 neurology & neurosurgery, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6630144f5805a5d3daa9c0a2ffd7dfb
https://www.ncbi.nlm.nih.gov/pubmed/32796131

المؤلفون: Rocio N, Villar-Quiles, Maja, von der Hagen, Corinne, Métay, Victoria, Gonzalez, Sandra, Donkervoort, Enrico, Bertini, Claudia, Castiglioni, Denys, Chaigne, Jaume, Colomer, Maria Luz, Cuadrado, Marianne, de Visser, Isabelle, Desguerre, Bruno, Eymard, Nathalie, Goemans, Angela, Kaindl, Emmanuelle, Lagrue, Jürg, Lütschg, Edoardo, Malfatti, Michèle, Mayer, Luciano, Merlini, David, Orlikowski, Ulrike, Reuner, Mustafa A, Salih, Beate, Schlotter-Weigel, Mechthild, Stoetter, Volker, Straub, Haluk, Topaloglu, J Andoni, Urtizberea, Anneke, van der Kooi, Ekkehard, Wilichowski, Norma B, Romero, Michel, Fardeau, Carsten G, Bönnemann, Brigitte, Estournet, Pascale, Richard, Susana, Quijano-Roy, Ulrike, Schara, Ana, Ferreiro

المصدر: Neurology

مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Muscle Proteins, Middle Aged, Article, Young Adult, Muscular Diseases, Child, Preschool, Humans, Female, Child, Selenoproteins, Follow-Up Studies, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e88560683abbf952be2edde6fc9cd071
https://pubmed.ncbi.nlm.nih.gov/32796131