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Journal of Neuromuscular Diseases|March 1, 2021
Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment EraMaggie C Walter, Claudia Chiriboga, Tina Duong, et al.Human Gene Therapy|February 26, 2009
Efficient and fast functional screening of microdystrophin constructs in vivo and in vitro for therapy of duchenne muscular dystrophyLouise H Jørgensen, Nancy Larochelle, Kristian Orlopp, et al.Neuromuscular Disorders : NMD|June 26, 2009
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 alleleNatalia Garcia-Angarita, Janbernd Kirschner, Mandy Heiliger, et al.Journal of Neurology|February 24, 2005
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDsDirk Fischer, Maggie C Walter, Kristina Kesper, et al.Neuromuscular Disorders : NMD|December 3, 2014
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophyPeter Meinke, Peter Schneiderat, Vlastimil Srsen, et al.Orphanet Journal of Rare Diseases|February 22, 2023
Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in GermanyBerenike Leibrock, Erik Landfeldt, Justine Hussong, et al.Brain : a Journal of Neurology|December 23, 2025
Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registryCornelia Voigt-Müller, Michelle Pfaffenlehner, Günther Bernert, et al.Human Molecular Genetics|February 18, 2009
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromesStefanie Bulst, Angela Abicht, Elke Holinski-Feder, et al.Orphanet Journal of Rare Diseases|January 23, 2019
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophyAstrid Pechmann, Kirsten König, Günther Bernert, et al.Neuromuscular Disorders : NMD|May 30, 2006
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophyJuliane S Müller, Henriett Piko, Benedikt G H Schoser, et al.Pageof 16