Results 131 to 140 of about 7,635 (221)

Can diabetic peripheral neuropathy influence the final outcome of physical performance after a combined training program in older adults? A double‐blind quasi‐experimental study

Physiological Reports, Volume 14, Issue 11, June 2026.
Illustration of the main findings of the study. Abstract This study investigated the influence of diabetic peripheral neuropathy (DPN) on physical performance in older adults with type 2 diabetes mellitus (T2DM) following a combined training (CT) program. A total of 51 older adults participated in the study divided into DPN (n = 24) and non‐DPN (n = 27)
Matheus Henrique dos Santos Lino, Marcus Vinicius Grecco, Eneida Yuri Suda, Sara Rodrigues Rosado, André Luiz de Seixas Soares, Adriana Machado Saldiba de Lima, Guilherme Carlos Brech, Julia Maria D'Andréa Greve, Angelica Castilho Alonso   +8 more
wiley   +1 more source

Distal myopathy caused by homozygous missense mutations in the nebulin gene

, 2007
We describe a novel, recessively inherited distal myopathy caused by homozygous missense mutations in the nebulin gene (NEB), in which other combinations of mutations are known to cause nemaline (rod) myopathy (NM).
Udd, Bjarne, Hackman, Peter, Pelin, Katarina, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta, Kalimo, Hannu,, Nuutinen, Elina, Paetau, Anders, Sewry, Caroline   +8 more
core   +1 more source

Therapy of collagen VI-related myopathies (Bethlem and Ullrich)

, 2008
The collagen VI-related myopathies comprise two major forms, Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), which show a variable combination of muscle wasting and weakness, joint contractures, distal laxity, and respiratory ...
MERLINI L, BERNARDI, PAOLO
core  

Structural variation in nebulin and its impact on phenotype and inheritance : establishing a dominant distal phenotype caused by large deletions

Structural variants (SVs) of the nebulin gene (NEB), including intragenic duplications, deletions, and copy number variation of the triplicate region, are an established cause of recessively inherited nemaline myopathies and related neuromuscular ...
Joshi, Purwa, Bönnemann, Carsten G., Savarese, Marco, Beggs, Alan H., Pelin, Katarina, Patel, Krutik, Sagath, Lydia, Kiiski, Kirsi, Jonson, Per Harald, Koparir, Erkan, Naidu, Kireshnee, Rogers, Curtis, Djordjevic, Djurdja, Lehtokari, Vilma-Lotta, Kunstmann, Erdmute, Iannaccone, Susan T., Scherer, Katalin, Orbach, Rotem, Ho, Desirée, Zygmunt, Alexander, Davis, Mark, LaGroon, Anna, Wallgren-Pettersson, Carina, Galindo, Maureen Kelly, Donkervoort, Sandra, Genetti, Casie A., Echaniz-Laguna, Andoni, Henning, Franclo, Biancalana, Valérie, Yoon, Grace, Laarne, Milla   +30 more
core   +1 more source

When myopathy breaks the rules: A late-onset distal presentation

, 2015
Myopathies typically present with proximal or generalised muscle weakness, but it is important for clinicians to recognise they may also have other distributions.
Newby, R (15745268), Jane Alty (14730310), Udd, B (15773723), Jamieson, S (15604685)   +3 more
core  

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

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

Extraosseous ^99mTc-MDP Uptake Guiding Intraoperative Sampling in Severe Inflammatory Myopathy: A Case Report and Literature Review. [PDF]

Diagnostics (Basel)
Maharaj M, Sirriram S, Govender N, Govender T, Bhana BD, Korowlay N.   +5 more
europepmc   +1 more source

Phenotypic Heterogeneity in Titinopathies with Peripheral Nerve Involvement in Pediatric Age: Two Case Reports. [PDF]

J Clin Med
Cesaroni CA, Pisanò G, Marton M, Caraffi SG, Rizzi S, Pantani A, Ziveri D, Pollazzon M, Koskenvuo J, Frattini D, Fusco C.   +10 more
europepmc   +1 more source

Muscle biopsy in genomic era: real-world diagnostic and clinical implications over 10 years. [PDF]

J Neurol
Zoppi D, Russo R, Boemia V, De Maria M, Marciano E Ortolano A, Vallefuoco F, D'Amico E, Di Costanzo G, Russo A, Somma T, Nolano M, Iodice R, Cavallo LM, Manganelli F, Ruggiero L.   +14 more
europepmc   +1 more source