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Eclinicalmedicine|February 22, 2024
Effects of tofersen treatment in patients with SOD1-ALS in a "real-world" setting - a 12-month multicenter cohort study from the German early access programMaximilian Wiesenfarth, Johannes Dorst, David Brenner, et al.Neurological Research and Practice|July 3, 2024
Patients' and caregivers' perception of multidimensional and palliative care in amyotrophic lateral sclerosis - protocol of a German multicentre studyKatharina Linse, Constanze Weber, Peter Reilich, et al.American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive ImpairmentManuela Wiessner, Andreas Roos, Christopher J Munn, 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.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.Annals of Clinical and Translational Neurology|December 31, 2025
Whole-Body Pattern of Muscle Degeneration and Progression in SarcoglycanopathiesLaura Costa-Comellas, Mauro Monforte, Angel Sanchez-Montañez, 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.Annals of Neurology|February 12, 2021
Assessing Dysferlinopathy Patients Over Three Years With a New Motor ScaleMarni B Jacobs, Meredoith K James, Linda P Lowes, et al.Frontiers in Neurology|April 1, 2022
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis ApproachAnna G Mayhew, Meredith K James, Ursula Moore, et al.Journal of Neurology|February 27, 2024
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2Katharina Vill, Moritz Tacke, Anna König, et al.Pageof 17