Results 101 to 110 of about 55,263 (257)

The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands [PDF]

, 1996
A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD).
Bakker, E. (Egbert), Barth, P.G. (Peter), Bolhuis, P.A. (P.), Busch, H.F.M. (Herman), Essen, J.A. (Anthonie) van, Ginjaar, I.B. (Ieke), Haan, R.J. (Rob) de, Hooff, L.J.M.A. (L. J M A) van, Höweler, C.J. (Chris), Jennekens, F.G.I. (Frans G.), Jongen, P. (P.), Kooj, A.J. (Anneke), Ommen, G.J. (Gert) van, Oosterhuis, H.J.G.H. (H. J G H), Padberg, B. (Barbara), Spaans, F. (F.), Visser, M. (Marianne) de, Wintzen, A.R. (Axel), Wokke, J.H.J. (John)   +18 more
core   +1 more source

Is Ferroptosis the Mechanistic Bridge Connecting Iron Dysregulation to Muscle Wasting and Functional Decline in Aging?

Aging Cell, Volume 25, Issue 2, February 2026.
This work proposes ferroptosis as a mechanistic driver of age‐related muscle dysfunction, whereby iron dyshomeostasis and impaired antioxidant capacity promote lipid peroxidation, and eventually trigger ferroptosis, leading to muscle wasting, and ultimately contributing to weakness and functional decline with aging.
Rola S. Zeidan, Simon Reinhard, Anna Picca, Emanuele Marzetti, Christiaan Leeuwenburgh, James F. Collins, Stephen D. Anton   +6 more
wiley   +1 more source

A practical approach to the patient presenting with dropped head [PDF]

, 2016
Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core   +1 more source

EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia

European Journal of Neurology, Volume 33, Issue 2, February 2026.
ABSTRACT Background Recent epidemiological studies on the general population reveal that up to 1.3% have oligo/asymptomatic hyperCKemia. Objective This guideline aims to provide updated, evidence‐based recommendations on investigating persons older than 18 years.
T. Kyriakides, K. Aleksovska, C. Angelini, Z. Argov, K. G. Claeys, M. de Visser, M. FIlosto, I. Jovanovic, A. Kostera‐Pruszczyk, M. J. Molnar, S. Sacconi, J. Schaefer, G. Siciliano, J. J. Vilchez, B. Schoser, A. Toscano   +15 more
wiley   +1 more source

The relative frequency of common neuromuscular diagnoses in a reference center

Arquivos de Neuro-Psiquiatria
The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests ...
Ana Cotta, Júlia Filardi Paim, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier-Neto, Sidney Baptista Junior, Luciano Romero Lima, Reinaldo Issao Takata, Antonio Pedro Vargas   +12 more
doaj   +1 more source

IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy

Journal of Neuromuscular Diseases
Background: FSHD is a highly prevalent inherited myopathy with a still poorly understood pathology. Objective: To investigate whether proinflammatory cytokines are associated with FSHD and which specific innate immune cells are involved in its pathology.
Anna Greco, K. Mul, Martin Jaeger, J. C. Dos Santos, H. Koenen, Leon de Jong, Ritse M. Mann, Jurgen Fütterer, M. Netea, Ger J. M. Pruijn, B. V. Van Engelen, L. Joosten   +11 more
semanticscholar   +1 more source

Are Muscular Dystrophies Cholesterol‐Handling Diseases? Lessons From HMGCR Variants and Statin‐Associated Myopathies

JCSM Communications, Volume 9, Issue 1, January/June 2026.
ABSTRACT Background Muscular dystrophies (MD) are a genetically diverse group of muscle disorders, many of which arise from mutations in genes encoding components of the sarcolemma dystrophin‐associated glycoprotein complex (DGC). Despite their notorious heterogeneity, MDs consistently lead to chronic myofiber weakening, necrosis and loss of muscle ...
Yejin Kang, Pascal Bernatchez
wiley   +1 more source

[Facioscapulohumeral muscular dystrophy]. [PDF]

Nederlands tijdschrift voor tandheelkunde, 2010
Facioscapulohumeral muscular dystrophy is clinically mainly characterized by progressive weakness of the facial, shoulder and upper arm muscles. It is an autosomal dominant heriditary disease, caused by a contraction of a repetitive DNA element at the end of the long arm of chromosome 4.
Wilbers, J., Frants, R.R., Engelen, B.G.M. van, Padberg, G.W.A.M., Maarel, S.M. van der   +4 more
openaire   +2 more sources

Spatially Resolved Profiling of Compartmentalized Muscle and Brain Inflammation

European Journal of Immunology, Volume 55, Issue 12, December 2025.
This review summarizes emerging spatially resolved multi‐omics approaches revealing organized cell–cell interactions in skeletal muscle and brain inflammation. These tools uncover radiating molecular programs and niche‐specific immunopathology that shape cellular reactivity and vulnerability.
Thorge Dobbertin, Lucas Schirmer
wiley   +1 more source

Upper girdle imaging in facioscapulohumeral muscular dystrophy.

PLoS ONE, 2014
BackgroundIn Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination.
Giorgio Tasca, Mauro Monforte, Elisabetta Iannaccone, Francesco Laschena, Pierfrancesco Ottaviani, Emanuele Leoncini, Stefania Boccia, Giuliana Galluzzi, Marco Pelliccioni, Marcella Masciullo, Roberto Frusciante, Eugenio Mercuri, Enzo Ricci   +12 more
doaj   +1 more source