Results 111 to 120 of about 275,647 (194)

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]

, 2010
Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Main, M, Morgan, JE, Straub, V, Feng, L, Sewry, CA, Muntoni, F, Lehovsky, J, Arechavala-Gomeza, V, Kinali, M, Hunt, D, Guglieri, M, Bushby, K, Edge, G   +12 more
core  

Beevor's sign in facioscapulohumeral muscular dystrophy [PDF]

BMJ Case Reports, 2014
The Beevor's sign is one of the classic neurological learning signs taught to medical students. It is elicited by asking a supine patient to attempt to get up by raising the head and keeping the arms crossed over the chest, while a marker (a clinical hammer) is kept at the level of the umbilicus to detect the movement of the umbilicus.
Chandramohan, Sharma, Mihir, Acharya, Banshi Lal, Kumawat, Kunal, Nath   +3 more
openaire   +2 more sources

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

Respiratory function in facioscapulohumeral muscular dystrophy 1

, 2017
To test the hypothesis that wheelchair dependency and (kypho-)scoliosis are risk factors for developing respiratory insufficiency in facioscapulohumeral muscular dystrophy, we examined 81 patients with facioscapulohumeral muscular dystrophy 1 of varying ...
Hendriks, J.C.M., E.L. van der Kooi, G.W. Padberg, Heijdra, Y.F., Y.F. Heijdra, B.G.M. van Engelen, Padberg, G.W.A.M., Padberg, G.W., C.G.C. Horlings, H.J. Gilhuis, Kooi, E.L. van der, Wohlgemuth, M., Maarel, S.M. van der, Engelen, B.G.M. van, Gilhuis, H.J., Horlings, G.C., M. Wohlgemuth, Horlings, C.G.C., J.C.M. Hendriks, S.M. van der Maarel   +19 more
core   +1 more source

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, Pierre‐Yves Baudin, Benjamin Marty, Marc Lapert, Harmen Reyngoudt   +4 more
wiley   +1 more source

The Effects of Resistance Exercise Training on Strength and Functional Tasks in Adults With Limb-Girdle, Becker, and Facioscapulohumeral Dystrophies

Frontiers in Neurology, 2019
Background: The inclusion of resistance training in the treatment and management of muscular dystrophy has previously been discouraged, based on mainly anecdotal evidence.
Emma L. Bostock, Dawn N. O'Dowd, Carl J. Payton, Dave Smith, Paul Orme, Bryn T. Edwards, Christopher I. Morse   +6 more
doaj   +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

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, Lotte Huysmans, Kobe Bamps, Ronald Peeters, Veerle Goosens, Frederik Maes, Patrick Dupont, Kristl G. Claeys   +7 more
wiley   +1 more source

DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression

Cell Reports, 2019
Summary: The DUX4 transcription factor is briefly expressed in the early cleavage-stage embryo, where it induces an early wave of zygotic gene transcription, whereas its mis-expression in skeletal muscle causes the muscular dystrophy facioscapulohumeral ...
Rebecca Resnick, Chao-Jen Wong, Danielle C. Hamm, Sean R. Bennett, Peter J. Skene, Sandra B. Hake, Steven Henikoff, Silvère M. van der Maarel, Stephen J. Tapscott   +8 more
doaj   +1 more source

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source

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, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source