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Neuromuscular Disorders : NMD|January 14, 2024
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertoniaCarina Wallgren-Pettersson, Manu Jokela, Vilma-Lotta Lehtokari, et al.
Neuromuscular Disorders : NMD|January 6, 2024
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the NetherlandsEmanuela Abiusi, Mar Costa-Roger, Enrico Silvio Bertini, et al.
Neuromuscular Disorders : NMD|January 9, 2024
A new pseudoexon activation due to ultrarare branch point formation in Duchenne muscular dystrophyZhiying Xie, Chengyue Sun, Chang Liu, et al.
Neuromuscular Disorders : NMD|December 29, 2023
Remote respiratory resistance exercise training improves respiratory function in individuals with VCP multisystem proteinopathyMadeline Halseth, Ryan Mahoney, Joyce Hsiou, et al.
Neuromuscular Disorders : NMD|December 31, 2023
Bone quality in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a one-year prospective natural history studyKarlijn Bouman, Anne T M Dittrich, Jan T Groothuis, et al.
Neuromuscular Disorders : NMD|December 30, 2023
Adolescent-onset multisystem proteinopathy due to a novel VCP variantPannathat Soontrapa, Nathan A Seven, Teerin Liewluck, et al.
Neuromuscular Disorders : NMD|April 2, 2024
Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, ItalyKatlyn McGrattan, Antonella Cerchiari, Eleanor Conway, et al.
Neuromuscular Disorders : NMD|December 7, 2023
The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational researchJoanne Bullivant, Anando Sen, Jess Page, et al.
Neuromuscular Disorders : NMD|November 6, 2023
A systematic literature review and meta-analysis of the effectiveness of vitamin D supplementation for patients with Duchenne muscular dystrophyJing Guo, Karen Anthony
Neuromuscular Disorders : NMD|November 9, 2023
Muscular phenotype description of abnormal THOC2 splicingCharlotte Dubucs, John Rendu, Laurence Michel-Calemard, et al.
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