المؤلفون: Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5

المؤلفون: Katharina Vill, Oliver Schwartz, Astrid Blaschek, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Ludwig Czibere, Jürgen Durner, Katja Eggermann, Bernhard Olgemöller, Erik Harms, Ulrike Schara, Heike Kölbel, Wolfgang Müller-Felber

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/ee690e0ce35a4f75a8b638173e003c07

المؤلفون: Laura S. Kremer, Daniel M. Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B. Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, Eliška Koňaříková, Birgit Repp, Gabi Kastenmüller, Jerzy Adamski, Peter Lichtner, Christoph Leonhardt, Benoit Funalot, Alice Donati, Valeria Tiranti, Anne Lombes, Claude Jardel, Dieter Gläser, Robert W. Taylor, Daniele Ghezzi, Johannes A. Mayr, Agnes Rötig, Peter Freisinger, Felix Distelmaier, Tim M. Strom, Thomas Meitinger, Julien Gagneur, Holger Prokisch

المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/97b8e0107e0d4933ba974f81bd5fa25a

المؤلفون: Andreas Unger, Andreas Roos, Andrea Gangfuß, Andreas Hentschel, Dieter Gläser, Karsten Krause, Kristina Doering, Ulrike Schara-Schmidt, Sabine Hoffjan, Matthias Vorgerd, Anne-Katrin Güttsches

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 7; Pages: 6808

مصطلحات موضوعية: BICD2, muscle proteomics, endoplasmic/sarcoplasmic reticulum, Golgi pathology, biglycan, thrombospondin-4

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Neurobiology; https://dx.doi.org/10.3390/ijms24076808

الاتاحة: https://doi.org/10.3390/ijms24076808

المؤلفون: Katharina Vill (10512085), Oliver Schwartz (10512088), Astrid Blaschek (6559307), Dieter Gläser (10512091), Uta Nennstiel (10512094), Brunhilde Wirth (191925), Siegfried Burggraf (10512097), Wulf Röschinger (10512100), Marc Becker (555475), Ludwig Czibere (207693), Jürgen Durner (10512103), Katja Eggermann (10429800), Bernhard Olgemöller (10512106), Erik Harms (10512109), Ulrike Schara (418917), Heike Kölbel (3826165), Wolfgang Müller-Felber (6691208)

مصطلحات موضوعية: Medicine, Cell Biology, Molecular Biology, Biotechnology, Cancer, Hematology, 43 SMA patients, motor neuron injury, SMN 1 gene, 4 SMN 2 copies, SMN 2 gene, 2 years Abstract Background Spinal, 3 SMN 2 copies, 2 SMN 2 copies, SMA type 3. Conclusion Identification, screening, polymerase chain reaction, Untreated children

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Newborn_screening_for_spinal_muscular_atrophy_in_Germany_clinical_results_after_2_years/14355526

الاتاحة: https://doi.org/10.6084/m9.figshare.14355526.v1

المؤلفون: Katharina Vill (10512085), Oliver Schwartz (10512088), Astrid Blaschek (6559307), Dieter Gläser (10512091), Uta Nennstiel (10512094), Brunhilde Wirth (191925), Siegfried Burggraf (10512097), Wulf Röschinger (10512100), Marc Becker (555475), Ludwig Czibere (207693), Jürgen Durner (10512103), Katja Eggermann (10429800), Bernhard Olgemöller (10512106), Erik Harms (10512109), Ulrike Schara (418917), Heike Kölbel (3826165), Wolfgang Müller-Felber (6691208)

مصطلحات موضوعية: Medicine, Cell Biology, Molecular Biology, Biotechnology, Cancer, Hematology, 43 SMA patients, motor neuron injury, SMN 1 gene, 4 SMN 2 copies, SMN 2 gene, 2 years Abstract Background Spinal, 3 SMN 2 copies, 2 SMN 2 copies, SMA type 3. Conclusion Identification, screening, polymerase chain reaction, Untreated children

Relation: https://figshare.com/articles/journal_contribution/Additional_file_2_of_Newborn_screening_for_spinal_muscular_atrophy_in_Germany_clinical_results_after_2_years/14355529

الاتاحة: https://doi.org/10.6084/m9.figshare.14355529.v1

المؤلفون: Wolfgang Müller-Felber, Astrid Blaschek, Oliver Schwartz, Dieter Gläser, Uta Nennstiel, Inken Brockow, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Jürgen Durner, Katja Eggermann, Heike Kölbel, Christine Müller, Iris Hannibal, Bernd Olgemöller, Ulrike Schara, Arpad von Moers, Regina Trollmann, Jessika Johannssen, Andreas Ziegler, Sebahattin Cirak, Andreas Hahn, Maja von der Hagen, Claudia Weiss, Gudrun Schreiber, Marina Flotats-Bastardas, Hans Hartmann, Sabine Illsinger, Astrid Pechmann, Veronka Horber, Jan Kirschner, Cornelia Köhler, Benedikt Winter, Johannes Friese, Katharina Vill

مصطلحات موضوعية: Neurology, Medizin, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2076f3c7700af5e297061ae3cdeaea57
https://www.ncbi.nlm.nih.gov/pubmed/36463459

المؤلفون: Alma Kuechler, Wolfram Klein, Ruth Falb, Tilman Heinrich, Susanne Haen, Amelie J. Müller, Natalia Prodan, Eva M. C. Schwaibold, Andreas Dufke, Marc Sturm, Nina Hirt, Mona Grimmel, Markus Hoopmann, Ulrich Gembruch, Petra Stöbe, Dirk Emmerich, Silke Hartmann, Stephan Waldmüller, Ute Grasshoff, Glen Kristiansen, Olga Kelemen, Armin Neumann, Darja Gauck, Dieter Gläser, Karl Oliver Kagan, Tobias B. Haack, Rebecca Buchert, Stefanie Beck-Wödl, Nicola Dikow, Christoph Schmidt, Ismail Tekesin, Sabine Hentze, Denise Horn, Olaf Riess, Martin Kehrer, Joohyun Park, Stephan Ossowski, Felix Distelmaier, Stephanie Spranger, Reiner Siebert, Luisa Averdunk

المصدر: Journal of Medical Genetics. 60:48-56

مصطلحات موضوعية: Genetics, Arthrogryposis, Medizin, Neuropathologie, Disease, Biology, Neuromuscular diseases, medicine.disease, Phenotype, Pathogenesis, Neuromuskuläre Krankheit, Pulmonary hypoplasia, DDC 570 / Life sciences, Locus heterogeneity, ddc:570, Nervous system diseases, medicine, ddc:610, Genetik, medicine.symptom, DDC 610 / Medicine & health, Gene, Genetics (clinical), Exome sequencing

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fc67063fced297732b175a2a131ead1
https://doi.org/10.1136/jmedgenet-2021-108064

المؤلفون: Dieter Gläser, null Deutsche Gesellschaft für Humangenetik e.V., null Berufsverband Deutscher Humangenetiker e.V., Katrin Hinderhofer

المصدر: Medizinische Genetik. 33:65-73

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::72459cc7e672d2fbcc9184c40294a705
https://doi.org/10.1515/medgen-2021-2059

المؤلفون: Benedikt Schoser, Dieter Gläser, Federica Montagnese, Noemi Vereb

المصدر: Journal of Neurology

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, myalgia, medicine.medical_specialty, Neurology, Myotonia Congenita, Myotonia, 03 medical and health sciences, 0302 clinical medicine, Chloride Channels, Mexiletine, Internal medicine, Humans, Medicine, NAV1.4 Voltage-Gated Sodium Channel, Family history, Non-dystrophic myotonia, Retrospective Studies, CLCN1, Original Communication, biology, business.industry, Myotonia congenita, Genetic heterogeneity, medicine.disease, 030104 developmental biology, Mutation, biology.protein, Channelopathies, Female, Neurology (clinical), medicine.symptom, business, SCN4A, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9de809bcea8cd97b769d9cc8501aea17
https://doi.org/10.1007/s00415-020-10328-1

المؤلفون: Angela Abicht, Katja Eggermann, Brunhilde Wirth, Dieter Gläser

المصدر: Medizinische Genetik. 32:263-272

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Newborn screening, business.industry, Genetics, medicine, Spinal muscular atrophy, business, medicine.disease, Molecular diagnostics, Genetics (clinical), Human genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::766d23d2ce1392c19c9ca20a82c3cb3a
https://doi.org/10.1515/medgen-2020-2033

المؤلفون: Pushpa Raj Joshi, Jambal Sarangerel, Rentsenbat Munkhbayar, Dieter Gläser, Stephan Zierz

المصدر: Journal of Clinical Neuroscience. 76:229-232

مصطلحات موضوعية: Genetics, Silent mutation, Mutation, biology, business.industry, General Medicine, medicine.disease_cause, Exon skipping, 03 medical and health sciences, Exon, 0302 clinical medicine, Neurology, 030220 oncology & carcinogenesis, Physiology (medical), biology.protein, Mutation testing, Medicine, Surgery, Creatine kinase, Neurology (clinical), Multiplex ligation-dependent probe amplification, business, Dystrophin, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7fba5f6fd7645243268d95a018a489d2
https://doi.org/10.1016/j.jocn.2020.04.065

المؤلفون: Brunhilde Wirth, Iris Hannibal, Christine Müller, Uta Nennstiel, Katja Eggermann, Jürgen Durner, Katharina Vill, Wulf Röschinger, Astrid Blaschek, Oliver Schwartz, Siegfried Burggraf, Dieter Gläser, Wolfgang Müller-Felber, Heike Kölbel, Ulrike Schara, Marc Becker, Bernd Olgemöller

المصدر: Journal of Neuromuscular Diseases. 7:109-117

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Newborn screening, business.industry, Incidence (epidemiology), Disease, Spinal muscular atrophy, SMN1, SMA, medicine.disease, nervous system diseases, Neurology, medicine, Neurology (clinical), Family history, business, Aunt

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8be98139a50ce83548de9327e5b37078
https://doi.org/10.3233/jnd-200475

المؤلفون: Hannes Erdmann, Florentine Scharf, Stefanie Gehling, Anna Benet-Pagès, Sibylle Jakubiczka, Kerstin Becker, Maria Seipelt, Felix Kleefeld, Karl Christian Knop, Eva-Christina Prott, Miriam Hiebeler, Federica Montagnese, Dieter Gläser, Matthias Vorgerd, Tim Hagenacker, Maggie C Walter, Peter Reilich, Teresa Neuhann, Martin Zenker, Elke Holinski-Feder, Benedikt Schoser, Angela Abicht

المصدر: Brain, DOI: 10.1093/brain/awac336 (2022)

مصطلحات موضوعية: Fshd, Bisulfite Sequencing, Epigenetics, Methylation, Medizin, Neurology (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d8299476da3c962ffc2d0b4734af825
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66395

المؤلفون: Oliver Schwartz, Heike Kölbel, Astrid Blaschek, Dieter Gläser, Siegfried Burggraf, Wulf Röschinger, Ulrike Schara, Wolfgang Müller-Felber, Katharina Vill

مصطلحات موضوعية: Motor Neurons, Muscular Atrophy, Spinal, Survival of Motor Neuron 2 Protein, Neonatal Screening, Phenotype, Neurology, Germany, Infant, Newborn, Medizin, Humans, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44ac5b8cd7abaa457ab11d147bda00be
https://www.ncbi.nlm.nih.gov/pubmed/35431259

المؤلفون: Astrid Blaschek, Heike Kölbel, Oliver Schwartz, Cornelia Köhler, Dieter Gläser, Katja Eggermann, Iris Hannibal, Ulrike Schara-Schmidt, Wolfgang Müller-Felber, Katharina Vill

مصطلحات موضوعية: Muscular Atrophy, Spinal, Survival of Motor Neuron 2 Protein, Neonatal Screening, Neurology, Infant, Newborn, Medizin, Humans, Infant, Neurology (clinical), Genetic Testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21990b3243e2eb4fc33f28851a26b1e2
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85138127831

المؤلفون: Georg F. Hoffmann, Katharina Vill, Astrid Blaschek, Heike Kölbel, Uta Nennstiel, Wulf Röschinger, Andrea Klein, Wolfgang Müller-Felber, Dieter Gläser, Oliver Schwartz, Ulrike Schara-Schmidt, G. Bernert

مصطلحات موضوعية: Gynecology, Psychiatry and Mental health, medicine.medical_specialty, Neurology, business.industry, Medizin, Medicine, Neurology (clinical), General Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc08a1746ebd49c5e56e789ba1914e2c
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85117096293

المؤلفون: Heike, Kölbel, Katharina, Vill, Oliver, Schwartz, Astrid, Blaschek, Uta, Nennstiel, Ulrike, Schara-Schmidt, Georg F, Hoffmann, Dieter, Gläser, Wulf, Röschinger, Günther, Bernert, Andrea, Klein, Wolfgang, Müller-Felber

المصدر: Der NervenarztLiteratur. 93(2)

مصطلحات موضوعية: Muscular Atrophy, Spinal, Neonatal Screening, Homozygote, Infant, Newborn, Humans, Exons, Child, Sequence Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a0e238223d90b8139a373a3fc78cebb9
https://pubmed.ncbi.nlm.nih.gov/34652481

المؤلفون: Ruth J, Falb, Amelie J, Müller, Wolfram, Klein, Mona, Grimmel, Ute, Grasshoff, Stephanie, Spranger, Petra, Stöbe, Darja, Gauck, Alma, Kuechler, Nicola, Dikow, Eva M C, Schwaibold, Christoph, Schmidt, Luisa, Averdunk, Rebecca, Buchert, Tilman, Heinrich, Natalia, Prodan, Joohyun, Park, Martin, Kehrer, Marc, Sturm, Olga, Kelemen, Silke, Hartmann, Denise, Horn, Dirk, Emmerich, Nina, Hirt, Armin, Neumann, Glen, Kristiansen, Ulrich, Gembruch, Susanne, Haen, Reiner, Siebert, Sabine, Hentze, Markus, Hoopmann, Stephan, Ossowski, Stephan, Waldmüller, Stefanie, Beck-Wödl, Dieter, Gläser, Ismail, Tekesin, Felix, Distelmaier, Olaf, Riess, Karl-Oliver, Kagan, Andreas, Dufke, Tobias B, Haack

المصدر: Journal of medical genetics.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::19aaf10de080ef8a827b98fa0af8f4a7
https://pubmed.ncbi.nlm.nih.gov/34740919

المؤلفون: Jenny Carmichael, Federico Zara, Konstantinos Ampatzis, Somayeh Bakhtiari, Sherifa A. Hamed, Roman Chrast, Rolf Stucka, Juliane Müller, Gudrun Nürnberg, Nihal Olgaç Dündar, Erik-Jan Kamsteeg, Shoji Tsuji, Maja Di Rocco, Shazia Maqbool, Francisca Millan, Jonathan Baets, Tine Deconinck, Hanan E. Shamseldin, Tim M. Strom, Marcello Scala, Elham Alehabib, Cara M. Skraban, Isabella Ceccherini, Vincenzo Salpietro, Mohammed Anter Abdelhameed, Filippo M. Santorelli, Michele Iacomino, Peter De Jonghe, Yasuhiro Suzuki, Rossella Pasquariello, Anna Uhrova Meszarosova, James T Peterson, Ahmed Alfares, Yoshihisa Takiyama, Rebecca Schüle, Hossein Darvish, Yinghong Wang, Marta Rusmini, Selina Deschner, Adriana P. Rebelo, Fatima Rahman, Tobias B. Haack, Manuela Wiessner, Changlian Zhu, Matthis Synofzik, Filipa Bouçanova, Carsten Bergmann, Wolfgang Hüttel, Frederic Tran Mau-Them, Pavel Seeman, Elodie Lacaze, Andreas R. Janecke, Richard A. Lewis, Jin Yun Helen Chen, Meng-Yuan Ni, Michaela Auer-Grumbach, Andrea Català-Bordes, Ivana Ricca, Sheng Chih Jin, Dieter Gläser, Rita Horvath, Maryam Najafi, Jamileh Rezazadeh Varaghchi, Henry Houlden, Bart P.C. van de Warrenburg, Katheryn Grand, Gökhan Uyanik, Jan Senderek, Jean-Jacques Médard, Özgür Duman, Andrea Pedroni, Willem De Ridder, Reza Maroofian, Saghar Ghasemi Firouzabadi, Michael C. Kruer, H. Küpper, Emmanuelle Schmitt, Alistair T. Pagnamenta, Mary J H Willis, Kaya Bilguvar, Majid Alfadhel, Jonathan De Winter, Stephan Züchner, Saeed Al Tala, Hwei-Jen Lee, John M. Graham, Amy Goldstein, Ruben Portier, Stephanie Efthymiou, Yiran Xu, Ludger Schöls, Christian Beetz, Maria Gabriela Otero, Nicholas W. Wood, Najwa Anwar, Martin Kuchar, Fowzan S. Alkuraya, Tyler Mark Pierson, David Dredge, Nourelhoda A Haridy, Laetitia Lambert, Hiroyuki Ishiura, Peter Nürnberg, Luca Bartesaghi, Kishin Koh, Haitian Nan

المصدر: Brain

مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine, Neurology (clinical), Complicated hereditary spastic paraplegia, Original Articles, business, Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63c62b3f0a5a44914619f38830ad9f5e
https://pubmed.ncbi.nlm.nih.gov/33970200