Results 41 to 50 of about 3,092 (251)

Artificial restoration of the linkage between laminin and dystroglycan ameliorates the disease progression of MDC1A muscular dystrophy at all stages [PDF]

, 2005
Laminin-α2 deficient congenital muscular dystrophy, classified as MDC1A, is a severe progressive muscle-wasting disease that leads to death in early childhood.
Meinen, Sarina
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Duchenne muscular dystrophy: A immunohistochemical profile and deletion pattern in dystrophin gene in North Indian population

Asian Journal of Medical Sciences, 2017
Background: Duchenne muscular dystrophy (DMD), one of the most common X linked muscular disorder, affecting 1 in 3500 male births and is caused by mutation in dystrophin gene. 65% of DMD cases are caused by large deletion of dystrophin gene, followed by
Rachna Agarwal
doaj   +1 more source

Membrane glucocorticoid receptors are localised in the extracellular matrix and signal through the MAPK pathway in mammalian skeletal muscle fibres [PDF]

, 2015
A number of studies have previously proposed the existence of glucocorticoid receptors on the plasma membrane of many cell types including skeletal muscle fibres.
Dietmar Steverding, Eugene Akujuru, Feliciano Protasi, Gabriel Mutungi, Goldberg AL, Lewis Arthurton, Simona Boncompagni, Timothy Pearson, Wing SS   +8 more
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Congenital muscular dystrophy with inflammation: Diagnostic considerations

Annals of Indian Academy of Neurology, 2016
Background and Purpose: Muscle biopsy features of congenital muscular dystrophies (CMD) vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic ...
Kaumudi Konkay, Meena Angamuthu Kannan, Lokesh Lingappa, Megha S Uppin, Sundaram Challa   +4 more
doaj   +1 more source

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. [PDF]

PLoS ONE, 2017
PURPOSE:Congenital muscular dystrophy (CMD) is a heterogeneous disease entity. The detailed clinical manifestation and causative gene for each subgroup of CMD are quite variable.
Wen-Chen Liang, Xia Tian, Chung-Yee Yuo, Wan-Zi Chen, Tsu-Min Kan, Yi-Ning Su, Ichizo Nishino, Lee-Jun C Wong, Yuh-Jyh Jong   +8 more
doaj   +1 more source

Gpr126/Adgrg6 has Schwann cell autonomous and nonautonomous functions in peripheral nerve injury and repair [PDF]

, 2016
Schwann cells (SCs) are essential for proper peripheral nerve development and repair, although the mechanisms regulating these processes are incompletely understood.
Carlin, Dan, Cavalli, Valeria, Harty, Breanne L, Joseph, Jessica, Mogha, Amit, Monk, Kelly R, Piao, Xianhua, Sanchez, Nicholas E, Suter, Ueli   +8 more
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Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD [PDF]

, 2010
Background Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive muscle dystrophy that resembles Duchenne muscular dystrophy (DMD).
Yo Okizuka, Yasuhiro Takeshima, Kyoko Itoh, Zhujun Zhang, Hiroyuki Awano, Koichi Maruyama, Toshiyuki Kumagai, Mariko Yagi, Masafumi Matsuo, AEH Emery, CG Bonnemann, E Ozawa, EM McNally, M Guglieri, AJ van der Kooi, AE Emery, B Georgieva, SA Moore, M Matsuo, Y Takeshima, EM Welch, M Matsuo, VK Tran, M Yagi, I Stec, M Vainzof, YK Hayashi, A Takano, L Klinge, AA Hack, M Vainzof, DR Duncan   +31 more
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Ulnar neuropathy at the elbow [PDF]

, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/106702/1/mus24138 ...
Descatha, Frost, Hanna, Lhotta, Richardson, Richardson   +5 more
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Exercise, cognition and Alzheimer’s disease: More is not necessarily better [PDF]

, 2005
Regional hypoperfusion, associated with a reduction in cerebral metabolism, is a hallmark of Alzheimer’s disease (AD) and contributes to cognitive decline. Cerebral perfusion and hence cognition can be enhanced by exercise.
Adlard, Alessi, Anton, Attwell, Baumbach, Bierman, Carmeliet, Chen, Chen, Churchill, Cohen, Colcombe, Cooke, Corder, Cott, Critchley, Cumming, Daley, De la Torre, Dick Swaab, Diesfeldt, Dubelaar, Eldridge, Endres, Erik Scherder, Farkas, Fedele, Fernández-Vizarra, Folstein, Fratiglioni, Friedman, Graham, Guigoz, Hamel, Harkany, Hayward, Hellström, Herrmann, Herrmann, Hoffman, Huang, Hönigfeld, Iadecola, Ide, Ide, Ide, Jagust, Johnson, Jørgensen, Katz, Keller, Kivipelto, Koike, Koistinaho, Kubes, Kurosawa, Launer, Laura Eggermont, Lawton, Lazowski, Lehtovirta, Liesi, Lijnen, Lindenmuth, MacRae, Martel, Matsuda, Matsuda, Maxwell, Melchor, Meltzer, Meyer, Miklossy, Monji, Morgan, Moro, Mulder, Muldowney, Nagahama, Nagai, Nakajima, Namazi, Naso, Palleschi, Palmer, Parihar, Paul Luiten, Petersen, Plutchik, Pober, Pott, Powell, Prager, Prunell, Raven, Reiman, Reitan, Rolland, Roth, Salehi, Scherder, Schini-Kerth, Selley, Skoog, Smith, Sobel, Spinler, Srikiatkhachorn, Suzuki, Swaab, Swaab, Swaab, Swain, Tappen, Tappen, Teri, Tinetti, Tong, Tong, Tsolaki, Tucker, Tucker, Ueda, Ushijima, Van de Winckel, Van Dyck, Van Gelder, Wang, Warkentin, Wechsler, Wechsler, Weller, Wenk, Whelton, White, Wilson, Wolf, Zarit   +137 more
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MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet [PDF]

, 2007
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a progressive cerebral white matter disease with onset in childhood, caused by mutations in the MLC1 gene.
Boor, Ilja, Nagtegaal, Machiel, Kamphorst, Wouter, van der Valk, Paul, Pronk, Jan C., van Horssen, Jack, Dinopoulos, Argirios, Bove, Kevin E., Pascual-Castroviejo, Ignacio, Muntoni, Francesco, Estévez, Raúl, Scheper, Gert C., van der Knaap, Marjo S.   +12 more
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