Results 151 to 160 of about 256,729 (300)

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy

Annals of Neurology, EarlyView.
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul, Michael P. McDermott, Russell J. Butterfield, Bakri Elsheikh, Kate Eichinger, Nicholas E. Johnson, Doris G. Leung, Samantha LoRusso, Leann Lewis, William B. Martens, Perry B. Shieh, Leo H. Wang, Michaela Walker, Rabi Tawil, Jeffrey M. Statland, ReSolve Investigators of the FSHD‐CTRN   +15 more
wiley   +1 more source

Effectiveness of long-term noninvasive ventilation measured by remote monitoring in neuromuscular disease. [PDF]

ERJ Open Res, 2023
Orr JE, Chen K, Vaida F, Schmickl CN, Laverty CG, Ravits J, Lesser D, Bhattacharjee R, Malhotra A, Owens RL.   +9 more
europepmc   +1 more source

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Delia Gagliardi, Chiara Villella, Matteo Zanovello, Virginia Iacobelli, Stefania Corti, Giacomo Pietro Comi, Pietro Fratta, Henry Houlden, Arianna Tucci, Dario Ronchi   +9 more
wiley   +1 more source

Respiratory Insufficiency in Neuromuscular Disease (RIND): A Delphi Study to Establish Consensus Criteria to Define and Diagnose Hypoventilation in Pediatric Neuromuscular Disease. [PDF]

J Neuromuscul Dis, 2023
Mayer OH, Amin R, Sawnani H, Shell R, Katz SL, RIND Study Group.   +5 more
europepmc   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source

The disclosure of a diagnosis of neuromuscular disease in adulthood: a qualitative study of patients' memories. [PDF]

J Community Genet
Beaujard B, Béhin A, Gargiulo M, Castillo MC.   +3 more
europepmc   +1 more source

A Randomized Controlled Clinical Trial of Lung Volume Recruitment in Adults with Neuromuscular Disease. [PDF]

Ann Am Thorac Soc, 2023
Sheers NL, Howard ME, Rochford PD, Rautela L, Chao C, McKim DA, Berlowitz DJ.   +6 more
europepmc   +1 more source

Feline Neuromuscular Diseases

Journal of Feline Medicine and Surgery, 2001
openaire   +2 more sources

Pediatric HyperCKemia: a 13-year retrospective study and predictors of neuromuscular disease and metabolic myopathy. [PDF]

Eur J Pediatr
Aires Martins I, Baptista de Lima J, Coelho MP, Bandeira A, Martins E, Correia J.   +5 more
europepmc   +1 more source

Electrophysiological and Imaging Biomarkers to Evaluate Exercise Training in Patients with Neuromuscular Disease: A Systematic Review. [PDF]

J Clin Med, 2023
Pomp L, Jeneson JAL, van der Pol WL, Bartels B.   +3 more
europepmc   +1 more source