Astrid Pechmann - Universitätsklinikum Freiburg, Albert-Ludwigs-Universität Freiburg

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论文共 73 篇作者统计合作学者相似作者

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Investigating a Domain Adaptation Approach for Integrating Different Measurement Instruments in a Longitudinal Clinical Registry

Maren Hackenberg,Michelle Pfaffenlehner,Max Behrens,Astrid Pechmann,Janbernd Kirschner,Harald Binder

BIOMETRICAL JOURNALno. 1 (2025)

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Endocrine Treatment in Duchenne Muscular Dystrophy - Current Practices and Future Directions

Astrid Pechmann, Clemens Kamrath

Journal of pediatric endocrinology & metabolism JPEM（2025）

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Long-term Efficacy and Safety of Nusinersen in Adults with 5q Spinal Muscular Atrophy: a Prospective European Multinational Observational Study

Rene Guenther,Claudia Diana Wurster,Svenja Brakemeier,Alma Osmanovic,Olivia Schreiber-Katz,Susanne Petri,Zeljko Uzelac,Miriam Hiebeler,Simone Thiele,Maggie C. Walter,Markus Weiler,Tobias Kessler,Maren Freigang,Hanna Sophie Lapp,Isabell Cordts,Paul Lingor,Marcus Deschauer,Andreas Hahn,Kyriakos Martakis,Robert Steinbach,Benjamin Ilse,Annekathrin Roediger, Julia Bellut, Julia Nentwich,Daniel Zeller, Mohamad Tareq Muhandes, Tobias Baum,Jan Christoph Koch,Bertold Schrank, Sophie Fischer,Andreas Hermann,Christoph Kamm,Steffen Naegel,Alexander Mensch,Markus Weber,Christoph Neuwirth,Helmar C. Lehmann,Gilbert Wunderlich, Christian Stadler, Maike Tomforde,Annette George,Martin Gross,Astrid Pechmann,Janbernd Kirschner, Matthias Tuerk,Mareike Schimmel,Guenther Bernert,Pascal Martin,Christian Rauscher,Gerd Meyer zu Hoerste,Petra Baum,Wolfgang Loescher,Marina Flotats-Bastardas,Cornelia Koehler,Kristina Probst-Schendzielorz,Susanne Goldbach,Ulrike Schara-Schmidt,Wolfgang Mueller-Felber,Hanns Lochmueller,Otgonzul von Velsen,Christoph Kleinschnitz,Albert C. Ludolph,Tim Hagenacker

LANCET REGIONAL HEALTH-EUROPE（2024）

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Giant Axonal Neuropathy (GAN): Cross-Sectional Data on Phenotypes, Genotypes, and Proteomic Signature from a German Cohort

Andrea Gangfuß, Guido Goj, Silke Polz,Adela Della Marina,Andreas Hentschel, Katja Ahlbory, Timo Deba,Urania Kotzaeridou,Elisabeth Schuler,Astrid Pechmann, Uta Diebold,Gerhard Kurlemann, Lucas Heinzkyll, Dirk Schmitt,Kevin Rostasy,Tobias Ruck,Johann Böhm,Andreas Roos,Ulrike Schara-Schmidt

Journal of Neurology（2024）

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GIANT AXON NEUROPATHY (GAN): CROSS-SECTIONAL DATA ON PHENOTYPES, GENOTYPES AND BIOMARKERS-THE GERMAN EXPERIENCE

Andrea Gangfuss, Guido Goj, Silke Polz,Adela Della Marina, Katja Ahlbory, Timo Deba, Urania Kotzaeridou, Elisabeth Schuler,Astrid Pechmann, Uta Diebold, Gerd Kurlemann,Kevin Rostasy, Lukas Heinzkyll, Dirk Schmitt,Johann Boehm,Heike Koelbel,Andreas Roos,Ulrike Schara-Schmidt

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2024): S22-S23

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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial

Obstetrical &amp Gynecological Survey（2024）

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Postnatal Management of Preterm Infants with Spinal Muscular Atrophy: Experience from German Newborn Screening

Regina Trollmann,Jessika Johannsen,Katharina Vill,Cornelia Köhler,Andreas Hahn,Sabine Illsinger,Astrid Pechmann,Maja von der Hagen,Wolfgang Müller-Felber

Orphanet Journal of Rare Diseasesno. 1 (2024): 1-9

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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy

JAMA PEDIATRICSno. 6 (2024): 540-547

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5Qsma: Standardised Retrospective Natural History Assessment in 268 Patients with Four Copies of SMN2

Katharina Vill,Moritz Tacke, Anna König,Matthias Baumann,Manuela Baumgartner,Meike Steinbach,Guenther Bernert,Astrid Blaschek,Marcus Deschauer,Marina Flotats-Bastardas,Johannes Friese,Susanne Goldbach,Martin Gross,René Günther,Andreas Hahn,Tim Hagenacker, Erwin Hauser,Veronka Horber,Sabine Illsinger,Jessika Johannsen,Christoph Kamm,Jan C. Koch,Heike Koelbel,Cornelia Koehler,Kirsten Kolzter,Hanns Lochmüller,Albert Ludolph,Alexander Mensch,Gerd Meyer zu Hoerste,Monika Mueller,Wolfgang Mueller-Felber,Christoph Neuwirth,Susanne Petri,Kristina Probst-Schendzielorz, Manuel Pühringer,Robert Steinbach,Ulrike Schara-Schmidt,Mareike Schimmel,Bertold Schrank,Oliver Schwartz,Kurt Schlachter, Annette Schwerin-Nagel,Gudrun Schreiber,Martin Smitka,Raffi Topakian,Regina Trollmann, Matthias Tuerk,Manuela Theophil,Christian Rauscher, Mathias Vorgerd,Maggie C. Walter,Markus Weiler,Claudia Weiss,Ekkehard Wilichowski,Claudia D. Wurster,Gilbert Wunderlich,Daniel Zeller,Andreas Ziegler,Janbernd Kirschner,Astrid Pechmann

JOURNAL OF NEUROLOGYno. 5 (2024): 2787-2797

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