Results 121 to 130 of about 314,455 (204)

Distal Myopathy and Kyphoscoliosis Associated with a Kyphoscoliosis Peptidase Gene Mutation: A Rare Case. [PDF]

Ann Indian Acad Neurol
Yeşildaş PY, Özenç B.
europepmc   +1 more source

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies. [PDF]

Nat Commun
Yeow D, Reis ALM, Stevanovski I, Njo N, Rudaks LI, Grosz BR, Sy JS, Kemp L, Chintalaphani SR, Chin M, Stoll M, Zhu D, Liang C, Morris KA, Hannaford A, Shandiz E, Ahmad KE, El-Wahsh S, Reddel SW, Boland-Freitas R, Ghaoui R, Barnes S, Sturm J, Willard A, Jasinarachchi M, Hawke S, Simon NG, Worgan L, Manser D, Tchan M, Griffith NC, Davis RL, Fahey MC, Sue CM, McCombe PA, Ng K, Kennerson ML, Cheong PL, Kumar KR, Deveson IW.   +39 more
europepmc   +1 more source

Expansion of the Clinical and Genetic Spectra of hnRNPA1-Associated Distal Myopathy in Two Korean Families. [PDF]

J Clin Neurol
Lee K, Choi YJ, Choi YC, Park HJ.
europepmc   +1 more source

Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial Dysfunction. [PDF]

Eur J Neurol
Oku MM, Niu Z, Selcen D, Litchy WJ, Milone M.   +4 more
europepmc   +1 more source

Reducing Body Myopathy in Female Patients With <i>FHL1</i> Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series. [PDF]

Neurol Genet
Severa G, Barnerias C, Gitiaux C, Laforet P, Desguerre I, Souvannanorath S, Periou B, Bastu S, Prigent H, Romero NB, Bonaldo P, Merlini L, Cenacchi G, Pegoraro E, Bello L, Rendu J, Villanova M, Carlier RY, Malfatti E, Authier FJ.   +19 more
europepmc   +1 more source

Rhabdomyolysis Associated With Heated Massage Therapy in a Patient Without Major Trauma: A Case Report. [PDF]

Clin Case Rep
Ratnayake A, Warnakula S, Handapangoda Y, Rathnayake U, Athapaththu L, Rupasinghe S.   +5 more
europepmc   +1 more source

Nutritional interventions and dietary supplements in muscle diseases: a systematic review. [PDF]

Rheumatology (Oxford)
Talreja T, Vedantam D, Bandarupalli P, Nagendra L, Salis S, Cheng K, Liewluck T, Lupeika D, MacLean A, Gupta L.   +9 more
europepmc   +1 more source

Beyond Biomarkers: Reclaiming the Central Role of Clinical Neurophysiology in Neuromuscular Disorders. [PDF]

Brain Sci
Mangiardi M.
europepmc   +1 more source

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods. [PDF]

Neuropathol Appl Neurobiol
Caramizaru A, Onnée M, Nikitin S, Dobrescu A, Severa G, Murtazina A, Urtizberea A, Lefaucheur JP, Carlier RY, Metay C, Malfatti E.   +10 more
europepmc   +1 more source

3D Radiomic Texture Analysis of Quantitative Muscle MRI Enhances the Distinction Between Myotonic Dystrophy Type 1 and Charcot-Marie-Tooth Neuropathy Type 1A: A Proof-of-Concept Study. [PDF]

Eur J Neurol
Iterbeke L, Huysmans L, Bamps K, Peeters R, Goosens V, Maes F, Dupont P, Claeys KG.   +7 more
europepmc   +1 more source