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European Journal of Medical Genetics|March 5, 2013
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotypeMichaela Auer-Grumbach, Heiko Bode, Thomas R Pieber, et al.
Journal of Neurology|May 11, 2024
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplamClaudia A Chiriboga, Claudio Bruno, Tina Duong, et al.
Neuromuscular Disorders : NMD|June 23, 2015
Quantitative muscle MRI: A powerful surrogate outcome measure in Duchenne muscular dystrophyUlrike Bonati, Patricia Hafner, Sabine Schädelin, et al.
Neuromuscular Disorders : NMD|May 28, 2008
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathiesKatharina Strach, Torsten Sommer, Christian Grohé, et al.
Plos One|January 23, 2016
Improved Muscle Function in Duchenne Muscular Dystrophy through L-Arginine and Metformin: An Investigator-Initiated, Open-Label, Single-Center, Proof-Of-Concept-StudyPatricia Hafner, Ulrike Bonati, Beat Erne, et al.
Human Mutation|July 26, 2006
Variable pathogenic potentials of mutations located in the desmin alpha-helical domainBertrand Goudeau, Fernando Rodrigues-Lima, Dirk Fischer, et al.
Annals of Clinical and Translational Neurology|May 12, 2017
Longitudinal characterization of biomarkers for spinal muscular atrophyUlrike Bonati, Štefan Holiga, Nicole Hellbach, et al.
Neurology and Therapy|February 13, 2023
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH StudyClaudia A Chiriboga, Claudio Bruno, Tina Duong, et al.
JAMA Network Open|October 31, 2019
Effect of Combination l-Citrulline and Metformin Treatment on Motor Function in Patients With Duchenne Muscular Dystrophy: A Randomized Clinical TrialPatricia Hafner, Ulrike Bonati, Andrea Klein, et al.
Neuromuscular Disorders : NMD|December 17, 2018
The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophyHeidemarie Kletzl, Anne Marquet, Andreas Günther, et al.
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