Results 211 to 220 of about 86,962 (305)

Enfermedades genéticas: distrofia muscular de Duchenne

Revista de Medicina y Cine / Journal of Medicine and Movies, 2016
María GARCÍA MORO, Enrique GARCÍA SÁNCHEZ, José Elías GARCÍA SÁNCHEZ   +2 more
doaj  

Large-scale serum protein biomarkers discovery associated with function and clinical milestones in Duchenne muscular dystrophy. [PDF]

Nat Commun
Ikelaar NA, Barnard AM, Eng SWM, Hosseini Vajargah S, Ha KCH, Kan HE, Vandenborne K, Niks EH, Walter GA, Spitali P.   +9 more
europepmc   +1 more source

Stress exposure in the mdx mouse model of Duchenne muscular dystrophy provokes a widespread metabolic response

The FEBS Journal, Volume 292, Issue 19, Page 5067-5085, October 2025.
Duchenne muscular dystrophy is a severe neuromuscular wasting disease that is caused by a primary defect in dystrophin protein. A targeted mass‐spectrometry‐based metabolomics assay was conducted to identify the impact of stress exposure on the regulation of biological stress pathways in the mdx mouse model of Duchenne muscular dystrophy.
Erynn E. Johnson, James M. Ervasti
wiley   +1 more source

Potential cytotoxicity of truncated slow skeletal muscle troponin T (ssTnT) in a loss of function TNNT1 myopathy mouse model

The FEBS Journal, Volume 292, Issue 20, Page 5525-5539, October 2025.
A loss of function TNNT1 myopathy mouse model with the nonsense mutation p.E180* showed potential cytotoxicity of the truncated slow troponin T fragment. The mRNA expression profile in the soleus muscle of Tnnt1‐p.E180* mice showed very different changes in comparison to that of Tnnt1‐knockout mice.
Han‐Zhong Feng, Kevin A. Strauss, Jian‐Ping Jin   +2 more
wiley   +1 more source

Development of a guideline for orthopaedic management in the care of children and young people with Duchenne muscular dystrophy in the UK National Health Service. [PDF]

J Child Orthop
Henman PD, Turner C, Aird J, Atherton WG, Campbell D, Carpenter C, Carsi MB, Dixon M, Giannakakis N, Girdler-Hardy T, Hulme A, James M, Joseph S, Kiely NT, Ohly K, Porter A, Rad D, Reuben E, Walton R, Wong SC, Guglieri M.   +20 more
europepmc   +1 more source

AN ELECTRO • VECTORCARDIOGRAPHIC-PATHOLOGICAL CORRELATIVE STUDY IN DUCHENNE PROGRESSIVE MUSCULAR DYSTROPHY

, 1982
H Uematsu, Mitsuhiro Yokota, Kazunobu Yamauchi, Hiroshi Hayashi, Iwao SOTOBATA, I Sobue   +5 more
openalex   +2 more sources

A Qualitative Examination of the Content Validity of the EQ‐5D‐5L and EQ‐5D‐Y‐3L in Adult and Paediatric Patients With Duchenne Muscular Dystrophy

Health Expectations, Volume 28, Issue 5, October 2025.
ABSTRACT Objective This study examined the content validity of EQ‐5D for Chinese patients with DMD. Specifically, it investigated: (1) the content validity of EQ‐5D‐5L in adult DMD patients and (2) the content validity of EQ‐5D‐Y‐3L (Y‐3L) in DMD patients aged 8–15 years.
Richard Huan Xu, Rui Jiang, Chenxi Yang, Dong Dong   +3 more
wiley   +1 more source

Comprehensive management of acute respiratory distress in a 13-year-old female with Duchenne muscular dystrophy: a case report. [PDF]

J Med Case Rep
Al-Shami K, Haddad Z, Mohammad Yousef Abuelrub M, Adnan Adel Qaddoumi B, Qudah F, Faour H, Khalil M, Karaja S.   +7 more
europepmc   +1 more source

Ultrastructural Localisation Of Ricinus Communis-I Lectin To Skeletal Muscle From Foetuses At High Risk For Duchenne Muscular Dystrophy [PDF]

, 1987
Thomas Voit, Caroline A. Sewry, Michael J. Dünn, Victor Dubowitz   +3 more
openalex   +1 more source

The Landscape of SPP1 + Macrophages Across Tissues and Diseases: A Comprehensive Review

Immunology, Volume 176, Issue 2, Page 179-196, October 2025.
SPP1+ macrophages represent a conserved, disease‐associated population present across cancerous and non‐cancerous conditions, involved in immunosuppression, fibrosis, lipid metabolism, phagocytosis, and other cellular processes. This review highlights their shared molecular programmes across tissues, their interactions with stromal and immune cells ...
Alessandro Palma
wiley   +1 more source