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Neurogenetic and Muscular Disorders Research Sign in to save
Papers per year
Papers 43
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Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years2021 Orphanet Journal of Rare Diseases article Medicine Neurogenetic and Muscular Disorders Research Open access
Katharina Vill, Oliver Schwartz, Astrid Blaschek, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, +11 more
168citations -
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?2020 Journal of Neuromuscular Diseases article Medicine Neurogenetic and Muscular Disorders Research Open access
Wolfgang Müller‐Felber, Katharina Vill, Oliver Schwartz, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, +11 more
73citations -
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany2022 Journal of Neuromuscular Diseases article Medicine Neurogenetic and Muscular Disorders Research Open access
Wolfgang Müller‐Felber, Astrid Blaschek, Oliver Schwartz, Dieter Gläser, Uta Nennstiel, Inken Brockow, +29 more
43citations -
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?2022 Journal of Neuromuscular Diseases article Medicine Neurogenetic and Muscular Disorders Research
Astrid Blaschek, Heike Kölbel, Oliver Schwartz, Cornelia Köhler, Dieter Gläser, Katja Eggermann, +4 more
34citations -
Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature2025 Journal of Neuromuscular Diseases article Medicine Neurogenetic and Muscular Disorders Research Open access cited by 1 patent
Johanna C.W. Deenen, André L. M. Verbeek, Jan J.G.M. Verschuuren, Baziel G.M. van Engelen, Nicol Cornelia Voermans
21citations -
Tailored antisense oligonucleotides for ultrarare CNS diseases: An experience-based best practice framework for individual patient evaluation2025 Molecular Therapy — Nucleic Acids article Medicine Neurogenetic and Muscular Disorders Research Open access
Rebecca Schüle, Holm Graeßner, Annemieke M Aartsma-Rus, Willeke van Roon‐Mom, Matthis Synofzik
10citations -
Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI2025 Journal of Cachexia Sarcopenia and Muscle article Medicine Neurogenetic and Muscular Disorders Research Open access
José Verdú-Díaz, Carla Bolano-Diaz, A. Gonzalez-Chamorro, S. Fitzsimmons, Jodi Warman‐Chardon, G. Kocak, +51 more
10citations -
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort2023 Journal of Neuromuscular Diseases article Medicine Neurogenetic and Muscular Disorders Research Open access
Stephanie Kleinle, Veronika Scholz, Anna Benet‐Pagès, Tobias Wohlfrom, Stefanie Gehling, Florentine Scharf, +19 more
9citations -
The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy2022 Journal of Neuromuscular Diseases article Medicine Neurogenetic and Muscular Disorders Research Open access
Karin J. Naarding, Mariska M. H. P. Janssen, Ruben D. Boon, Paulina J.M. Bank, Robert Peter Matthew, Gregorij Kurillo, +6 more
8citations -
Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND)2024 Journal of Neuromuscular Diseases article Medicine Neurogenetic and Muscular Disorders Research Open access
Sam Geuens, Nathalie Goemans, Jurgen Lemiere, Nathalie Doorenweerd, Liesbeth De Waele
7citations -
Population-based incidence rates of 15 neuromuscular disorders: a nationwide capture-recapture study in the Netherlands2024 Neuromuscular Disorders article Medicine Neurogenetic and Muscular Disorders Research Open access
Johanna C.W. Deenen, Corinne G.C. Horlings, Nicol Cornelia Voermans, Pieter A. van Doorn, Catharina Gerritdina Faber, Anneke J. van der Kooi, +8 more
5citations
Most active Aachen authors
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Erik Harmen Niks 7,625 citations overall13 papers
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Annemieke M Aartsma-Rus 20,730 citations overall11 papers
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Katja Eggermann 2,387 citations overall8 papers
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Jan J.G.M. Verschuuren 28,901 citations overall4 papers
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Hermien E. Kan 4,601 citations overall3 papers
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Menno van der Holst 432 citations overall3 papers
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Maaike van Putten 2,502 citations overall2 papers
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Yvonne D. Krom 1,651 citations overall2 papers
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Marco Roos 23,445 citations overall1 paper
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Ingo Kurth 13,878 citations overall1 paper
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Willeke van Roon‐Mom 7,335 citations overall1 paper
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Mark C. Kruit 4,915 citations overall1 paper
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Martijn Rudolf Tannemaat 4,257 citations overall1 paper
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Chiara S. M. Straathof 2,197 citations overall1 paper
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Selma C. Tromp 1,973 citations overall1 paper