Results 191 to 200 of about 75,659 (315)

Emerging Upper Extremity Muscle Ultrasound Patterns as a Diagnostic Aid in TTN‐Related Myopathies

open access: yesMuscle &Nerve, Volume 74, Issue 1, Page 111-120, July 2026.
ABSTRACT Introduction/Aims Biallelic pathogenic variants in TTN cause rare forms of early‐onset myopathy, manifesting with variable severity, distribution, and progression of muscle weakness, often associated with respiratory insufficiency and potentially cardiomyopathy. The large size of TTN and phenotypic heterogeneity in TTN‐related myopathy (TTN‐RM)
Abigail Potticary   +3 more
wiley   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

open access: yesMuscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu   +4 more
wiley   +1 more source

A Retrospective Cohort Study of Nutrition Outcomes in Children With Spinal Muscular Atrophy Type 1 and 2 Treated With Disease Modifying Therapies

open access: yesMuscle &Nerve, Volume 74, Issue 1, Page 198-206, July 2026.
ABSTRACT Introduction/Aims Few studies have investigated nutrition as a primary outcome of disease modifying therapy (DMT) in spinal muscular atrophy (SMA). This study aimed to describe nutrition outcomes of DMT in children with SMA 1 and 2. Methods Children ≤ 18 years old with SMA 1 or 2 treated with DMTs, and untreated children with SMA 1 were ...
Katie O'Brien   +5 more
wiley   +1 more source

Using peri‐operative patient‐ and parent‐reported experience and outcome measures to identify paediatric postsurgical recovery trajectories: an observational cohort study

open access: yesAnaesthesia, Volume 81, Issue 7, Page 959-971, July 2026.
Summary Introduction Identifying postoperative pain trajectories and pre‐operative risk factors may support preventative measures and enhance pain management. We aimed to determine the feasibility of gathering peri‐operative data from families of children, describe their recovery trajectories and identify risk factors for high postsurgical pain ...
Samantha Pang   +7 more
wiley   +1 more source

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

open access: yesBrain Pathology, Volume 36, Issue 4, July 2026.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper   +17 more
wiley   +1 more source

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