Annals of Clinical and Translational Neurology, Volume 12, Issue 10, Page 2020-2035, October 2025.ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons +8 more
wiley +1 more source
Genetic linkage between the loci for colour blindness and Duchenne type muscular dystrophy.
, 1966 Alan E H Emery
openalex +1 more source
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia. [PDF]
, 1989 Edward R.B. McCabe +8 more
openalex +1 more source
Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis
Annals of Clinical and Translational Neurology, Volume 12, Issue 10, Page 2056-2067, October 2025.ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont +4 more
wiley +1 more source
PROGRESSIVE MUSCULAR DYSTROPHY OF THE DUCHENNE TYPE IN FEMALES AND ITS MODE OF INHERITANCE
, 1960 Victor Dubowitz
openalex +1 more source
Digital Activity Markers in Chronic Inflammatory Demyelinating Polyneuropathy
Annals of Clinical and Translational Neurology, Volume 12, Issue 10, Page 2045-2055, October 2025.ABSTRACT Objective To evaluate the utility of smartwatch and smartphone‐based activity metrics for assessing disease severity and quality of life in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Methods In the electronic monitoring of disease activity in patients with CIDP (EMDA‐CIDP) trial, we performed a prospective ...
Lars Masanneck +15 more
wiley +1 more source
Duchenne muscular dystrophy in a female with 45,X/46,XX chromosome constitution [PDF]
, 1987 Motoki Sano +4 more
openalex +1 more source
Filamented Light (FLight) Bioprinting of Mini‐Muscles with Self‐Renewal Potential
Advanced Materials, Volume 37, Issue 40, October 9, 2025.This work presents the FLight biofabrication for engineering in vitro muscle constructs by photocrosslinking pristine collagen and fibrinogen using ruthenium. The resulting mini‐muscles retain in vivo‐like tissue organization and a Pax7⁺ cell pool.
Hao Liu +8 more
wiley +1 more source
Membrane Fluidity of Nonmuscle Cells in Duchenne Muscular Dystrophy: Effect on Lymphocyte Membranes of Incubation in Patient and Control Sera [PDF]
, 1987 Christoph Hübner +2 more
openalex +1 more source
Advanced Science, Volume 12, Issue 39, October 20, 2025.DNA‐based hydrogels serve dual roles as structural scaffolds and therapeutic platforms, offering innovative solutions for musculoskeletal regeneration with multifunctional abilities. Abstract Musculoskeletal disorders, including bone fractures, osteoarthritis, and muscle injuries, represent a leading cause of global disability, revealing the urgency ...
Ruijianghan Shi +4 more
wiley +1 more source