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Neuromuscular Disorders : NMD|December 28, 2005
Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosisM von der Hagen, J Schallner, A M Kaindl, et al.
Journal of Neuromuscular Diseases|September 12, 2025
State of the art: Pregnancy in spinal muscular atrophy in the treatment eraMaggie C Walter, Bernert Günther, Blaschek Astrid, et al.
Annals of Clinical and Translational Neurology|April 29, 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9Lindsay B Murphy, Olivia Schreiber-Katz, Karen Rafferty, et al.
Neurology|May 13, 2016
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weaknessZoltan Lukacs, Paulina Nieves Cobos, Stephan Wenninger, et al.
Neurology|October 28, 2025
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular DystrophyVolker Straub, Amanda R Clause, Sandra Donkervoort, et al.
Molecular Cell|July 1, 2020
The Histone Chaperone FACT Induces Cas9 Multi-turnover Behavior and Modifies Genome Manipulation in Human CellsAlan S Wang, Leo C Chen, R Alex Wu, et al.
Journal of Neurology|May 6, 2011
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 genePeter Reilich, Rita Horvath, Sabine Krause, et al.
Human Molecular Genetics|June 21, 2013
Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscleNikolai Klymiuk, Andreas Blutke, Alexander Graf, et al.
Clinical Lung Cancer|June 15, 2025
Baseline Characteristics of Participants and Pulmonary Nodules in the Watch the Spot Trial: A Pragmatic Trial of Less versus More Intensive Strategies for Active Surveillance of Patients With Small Pulmonary NodulesMichael K Gould, Evan de Bie, Lihong Qi, et al.
Orphanet Journal of Rare Diseases|October 17, 2021
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1AShahram Attarian, Peter Young, Thomas H Brannagan, et al.
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