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Brain : a Journal of Neurology|November 2, 2013
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeMichael Krieger, Andreas Roos, Claudia Stendel, et al.The Journal of Experimental Medicine|September 29, 2023
Epitope-engineered human hematopoietic stem cells are shielded from CD123-targeted immunotherapyRomina Marone, Emmanuelle Landmann, Anna Devaux, et al.Biorxiv : the Preprint Server for Biology|July 17, 2026
CD117 epitope-shielded hematopoietic stem cell transplantation with toxin-free conditioning and in vivo selection ameliorates a β-thalassemia modelRomina Marone, Rosalba Lepore, Kiriaki Paschoudi, et al.Journal of Neurology|October 7, 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutationsVelina Guergueltcheva, Juliane S Müller, Marina Dusl, et al.Journal of Neuromuscular Diseases|September 12, 2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling studyBenedikt Becker, Isabell Cordts, Jutta Becker, et al.Brain : a Journal of Neurology|July 20, 2022
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.Brain : a Journal of Neurology|September 28, 2021
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinaseOsorio Lopes Abath Neto, Livija Medne, Sandra Donkervoort, et al.Human Gene Therapy|July 25, 2024
Improving the Assessment of Risk Factors Relevant to Potential Carcinogenicity of Gene Therapies: A Consensus ArticleJan C Klapwijk, Alberto Del Rio Espinola, Silvana Libertini, et al.Journal of Neuromuscular Diseases|November 24, 2025
Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidenceClaudia Weiß, Katharina Vill, Matthias Baumann, et al.American Journal of Human Genetics|February 12, 2011
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defectJan Senderek, Juliane S Müller, Marina Dusl, et al.Pageof 32