Results 11 to 20 of about 466,057 (189)

Limb Girdle Muscular Dystrophies [PDF]

Neurologic Clinics, 2020
The limb girdle muscular dystrophies (LGMDs) are genetic muscle diseases with primary skeletal muscle involvement in persons with the ability to walk independently at some point in the disease course. They usually have increased creatine kinase levels along with patterns of fatty and fibrous deposition on muscle imaging and/or dystrophic features on ...
Jacob, Bockhorst, Matthew, Wicklund
core   +22 more sources

Limb-girdle muscular dystrophies in India: A review

Annals of Indian Academy of Neurology, 2017
Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies.
Satish V Khadilkar, Hinaben Dayalal Faldu, Sarika Bapuso Patil, Rakesh Singh   +3 more
doaj   +4 more sources

Limb girdle muscular dystrophies in India [PDF]

Neurology India, 2008
The recent years have seen remarkable progress in the field of limb girdle muscular dystrophies (LGMDs) with the advances in immunocytochemistry and genetics. Based on this, many subgroups have emerged. Protein products and genes are getting defined and newer mechanisms of disease are being recognized.
Khadilkar, Satish V., Singh, Rakesh K.
openaire   +4 more sources

The heart in limb girdle muscular dystrophy [PDF]

Heart, 1998
Objective To assess the frequency, nature, and severity of cardiac abnormalities in limb girdle muscular dystrophy, and its relation to age and weakness in various genotypes. Design In 26 autosomal dominant, 38 autosomal recessive, and 33 sporadic ...
van der Kooi, A.J., de Voogt, W.G., Barth, P.G., Busch, H.F.M., Jennekens, F.G.I., Jongen, P.J.H., de Visser, M.   +6 more
openaire   +5 more sources

Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]

, 2011
Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
core   +1 more source

Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]

, 2008
Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Geddes, Stella M., Keep, Nicholas H., Bashir, R., Driscoll, P.C., Patel, P., Harris, R., Bushby, K., Watson, J.D., Strehle, E.M.   +8 more
core   +1 more source

Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle [PDF]

, 2010
Background: LARGE is one of seven putative or demonstrated glycosyltransferase enzymes defective in a common group of muscular dystrophies with reduced glycosylation of alpha-dystroglycan.
Paul S Sharp, Dominic J. Wells, Ke Liu, Susan C Brown, Sharp, P S, Dominic J Wells, Cirak, S., Sebahattin Cirak, Wells, DJ, Paul S. Sharp, Muntoni, F., Susan C. Brown, Wells, D J, Brockington, M., Cirak, S, Liu, K., Brockington, M, Torelli, S, Brown, SC, Sharp, PS, Muntoni, F, Brown, S C, Sharp, P.S., Torelli, S., Liu, K, Wells, D.J., Silvia Torelli, Brockington, M A, Francesco Muntoni, Martin Brockington, Brown, S.C.   +30 more
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Crystal structures of the human Dysferlin inner DysF domain [PDF]

, 2014
Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R., Nicholas H Keep, Keep, Nicholas H., Altin Sula, Sula, Altin, Orengo, C., Ambrose R Cole, Corin Yeats, Yeats, C., Christine Orengo   +9 more
core   +1 more source

Exploiting the full power of temporal gene expression profiling through a new statistical test: Application to the analysis of muscular dystrophy data [PDF]

, 2006
Background: The identification of biologically interesting genes in a temporal expression profiling dataset is challenging and complicated by high levels of experimental noise.
de Meijer Emile J, Veronica Vinciotti, Xiaohui Liu, t' Hoen, PC, de Meijer, EJ, Emile J de Meijer, Rolf Turk, 't Hoen Peter AC, Turk, R, Peter AC 't Hoen, Vinciotti, V, Xiaohui, L, Vinciotti Veronica, Turk Rolf, Liu Xiaohui   +14 more
core   +1 more source

The Childhood Limb-Girdle Muscular Dystrophies

The heterogeneous childhood limb-girdle muscular dystrophies have originally been defined as a group of autosomal recessive and dominant diseases with progressive weakness and wasting of shoulder and pelvic-girdle muscles.
Bushby K, Straub V
core   +5 more sources