Results 61 to 70 of about 57,206 (164)
With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies
Neurology and Clinical Neuroscience, Volume 14, Issue 5, Page 354-361, September 2026.ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley +1 more source
Diagnostic challenges in facioscapulohumeral muscular dystrophy [PDF]
, 2006 The diagnosis of facioscapulohumeral muscular dystrophy (FSHD) can be difficult due to its clinical variability and complex genetic cause. We present three challenging cases: one misdiagnosis of FSHD, one patient with FSHD resembling mitochondrial ...
FIGARELLA D +7 more
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Quantitative Guanidinium CEST‐Based pH Mapping at 3 T in Healthy and Pathological Muscle
NMR in Biomedicine, Volume 39, Issue 8, August 2026.Chemical exchange saturation transfer (CEST) enables high‐resolution pH mapping by measuring the exchange rate between guanidinium and water protons. The current method is based on the Z‐spectra fitting with Bloch–McConnell (BM) equations and allows us to detect pH variations on the order of 0.02 pH units in the very restrained pathophysiological pH ...
Valentin Henriet +4 more
wiley +1 more source
European Journal of Neurology, Volume 33, Issue 8, August 2026.In this proof‐of‐concept study, 3D radiomic texture analysis of quantitative muscle MRI (proton density fat fraction (PDFF, %) maps) distinguished the myogenic disease DM1 from the neurogenic disease CMT1A. Compared with DM1, CMT1A showed higher entropy, contrast, and lower homogeneity, reflecting a reticular vs.
Louise Iterbeke +7 more
wiley +1 more source
Human Umbilical Vein Endothelial Cells Express the DUX4 Protein: A Basis for Further Vascular Research [PDF]
Türk Patoloji DergisiObjective: A growing body of evidence suggests a correlation between endothelial cell dysfunction and cancer, as well as facioscapulohumeral dystrophy, both of which are DUX4-related diseases. However, the endogenous expression of DUX4 within endothelial
Ceren HANGUL +5 more
doaj +1 more source
Cell Transplantation, 2020 A study was recently published that sought to develop an in vivo model of facioscapulohumeral muscular dystrophy by transplanting muscle precursor cells from a patient into immunodeficient mice.
Daniel Skuk, Jacques P Tremblay
doaj +1 more source
Facioscapulohumeral disease [PDF]
, 1982 The purpose of this study is to discuss several aspects of facioscapulohumeral disease, also called "autosomal dominant facioscapulohumeral muscular dystrophy" or "Landouzy-Dejerine type of muscular dystrophy" or "Landouzy-Dejerine' s disease" .
Padberg, G.W.A.M.
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Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability
Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1106-1117, June 2026.ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein +13 more
wiley +1 more source
, 2016 Facioscapulohumeral muscular dystrophy (FSHD) is characterized by extreme variability in symptoms with females being less severely affected than males and presenting a higher proportion of asymptomatic carriers.
Marsha Pellegrino +13 more
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