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Journal of Comparative Effectiveness Research|August 28, 2020
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophyCraig Campbell, Richard J Barohn, Enrico Bertini, et al.Journal of Inherited Metabolic Disease|July 25, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutationsNadja Mingirulli, Angela Pyle, Denisa Hathazi, et al.JAMA Pediatrics|April 8, 2024
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled TrialOliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, et al.Orphanet Journal of Rare Diseases|February 14, 2024
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disordersAntonio Atalaia, Dagmar Wandrei, Nawel Lalout, et al.Nature|March 5, 2013
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALSHong Joo Kim, Nam Chul Kim, Yong-Dong Wang, et al.Nature Medicine|October 21, 2014
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutationsDesirée Schubert, Claudia Bode, Rupert Kenefeck, et al.Journal of Neuromuscular Diseases|December 24, 2022
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry StudyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.Orphanet Journal of Rare Diseases|October 24, 2022
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry studyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.Molecular Therapy. Nucleic Acids|November 30, 2023
Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDiAlessia Cavazza, Ayal Hendel, Rasmus O Bak, et al.Contemporary Clinical Trials|April 29, 2017
Developing standardized corticosteroid treatment for Duchenne muscular dystrophyMichela Guglieri, Kate Bushby, Michael P McDermott, et al.Pageof 32