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Journal of the Peripheral Nervous System : JPNS|March 26, 2024
A 21-bp deletion in the complement regulator CD55 promotor region is associated with multifocal motor neuropathy and its disease courseJeroen W Bos, Ewout J N Groen, Henny G Otten, et al.
NMR in Biomedicine|January 20, 2022
Multi-parametric quantitative magnetic resonance imaging of the upper arm muscles of patients with spinal muscular atrophyMelissa T Hooijmans, Laura E Habets, Sandra A M van den Berg-Faay, et al.
Human Molecular Genetics|October 11, 2017
Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA)Sebastian Rademacher, Bert M Verheijen, Niko Hensel, et al.
Chronic Respiratory Disease|April 20, 2022
Short-term effect of air stacking and mechanical insufflation-exsufflation on lung function in patients with neuromuscular diseasesEsther S Veldhoen, Femke Vercoelen, Leandra Ros, et al.
Journal of Neuroimmunology|December 13, 2006
Ganglioside-specific IgG and IgA recruit leukocyte effector functions in Guillain-Barré syndromeNina M van Sorge, Nobuhiro Yuki, Michiaki Koga, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigreeW Ludo van der Pol, Jolien F Leijenaar, Wim G M Spliet, et al.
Neurology|December 9, 2016
Diagnostic value of sonography in treatment-naive chronic inflammatory neuropathiesH Stephan Goedee, W Ludo van der Pol, Jan-Thies H van Asseldonk, et al.
Neuromuscular Disorders : NMD|November 28, 2020
Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trialFrancesco Muntoni, Enrico Bertini, Giacomo Comi, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 17, 2010
Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acidSanne Piepers, Jan-Maarten Cobben, Peter Sodaar, et al.
Annals of Neurology|May 1, 2016
Autoantibody pathogenicity in a multifocal motor neuropathy induced pluripotent stem cell-derived modelOliver Harschnitz, Leonard H van den Berg, Lill Eva Johansen, et al.
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