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Spinal Muscular Atrophy With Myoclonic Epilepsy

Archives of Epilepsy, 2017
Spinal muscular atrophy (SMA) is defined by degeneration of anterior horn cells in the spinal cord. Progressive myoclonic epilepsy (PME) is characterized by myoclonic and generalized seizures with progressive neurological deterioration.
Buket ÖZKARA, Faik BUDAK
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Development of Therapies for Spinal Muscular Atrophy Using Gene Therapy and Nanotechnology [PDF]

, 2013
Spinal muscular atrophy (SMA) is a genetic disease which is characterized by muscle weakness and atrophy. The disease arises from mutations in the survival motor neuron 1 (SMN1) gene causing degeneration of spinal cord motor neurons.
Little, Daniel
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Gray matter atrophy rate as a marker of disease progression in AD [PDF]

, 2010
Global gray matter (GM) atrophy rates were quantified from magnetic resonance imaging (MRI) over 6- and 12-month intervals in 37 patients with Alzheimer's disease (AD) and 19 controls using: (1) nonlinear registration and integration of Jacobian values ...
Miller, David H., Nick C. Fox, Kelvin K. Leung, David H. Miller, Anderson, V.M., Anderson, Valerie M, Jonathan W. Bartlett, Leung, Kelvin K, Bartlett, J.W., Bartlett, Jonathan W., Leung, Kelvin K., Fox, Nick C, Schott, Jonathan M, Leung, K.K., Fox, Nick C., Schott, Jonathan M., Valerie M. Anderson, Fox, N.C., Anderson, Valerie M., Schott, J.M., Bartlett, Jonathan W, Jonathan M. Schott, Miller, David H, Miller, D. H., Schott, JM, Fox, NC, Leung, KK, Miller, DH, Anderson, Valerie, Bartlett, JW   +29 more
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FAS-dependent cell death in α-synuclein transgenic oligodendrocyte models of multiple system atrophy [PDF]

, 2013
Multiple system atrophy is a parkinsonian neurodegenerative disorder. It is cytopathologically characterized by accumulation of the protein p25α in cell bodies of oligodendrocytes followed by accumulation of aggregated α-synuclein in so-called glial ...
Christine L Kragh, Lubetzki Catherine, Kragh, Christine L, Manuela Neumann, Neumann, Manuela, Lubetzki, Catherine, Bernard Zalc, Glenda M Halliday, Jensen, Poul H, Gai, Wei-Ping, Wei-Ping Gai, Kragh, Christine, Zalc Bernard, Jensen, Poul, Christian Haass, Fillon, Gwenaëlle, Gysbers Amanda, Philipp J Kahle, Richter-Landsberg, Christiane, Fillon Gwenaëlle, Halliday, Glenda M., Hansen, Hanne D, Gwenaëlle Fillon, Gai, Wei Ping, Kragh, Christine L., Hansen, Hanne, Amanda Gysbers, Catherine Lubetzki, Smith, Wanli, Christiane Richter-Landsberg, Kahle Philipp J., Zalc, Bernard, Haass Christian, Richter-Landsberg, Christian, Halliday, Glenda,, Kahle, Philipp J., Kahle, Philipp, Gysbers, Amanda, Hansen, Hanne D., Jensen, Poul H., Richter-Landsberg Christiane, Halliday Glenda M., Kahle, Philipp J, Halliday, Glenda M, Kragh Christine L., Jensen Poul H., Neumann Manuela, Hansen Hanne D., Poul H Jensen, Haass, Christian, Hanne D Hansen, Gai Wei-Ping, Halliday, Glenda, M.   +52 more
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Atrophy Resistant vs. Atrophy Susceptible skeletal muscles: “aRaS” as a novel experimental paradigm to study the mechanisms of human disuse atrophy [PDF]

, 2021
Objective: Disuse atrophy (DA) describes inactivity-induced skeletal muscle loss, through incompletely defined mechanisms. An intriguing observation is that individual muscles exhibit differing degrees of atrophy, despite exhibiting similar anatomical ...
Inns, T.B., Hardy, E.J.O., Bass, JJ, Sale, C, Piasecki, Mathew, Smith, K., Atherton, PJ, Bass, Joseph J., Hardy, EJO, Sale, C., Wilkinson, DJ, Inns, TB, Phillips, BE, Wilkinson, D.J., Phillips, B.E., Morris, RH, Piasecki, M, Morris, R., Spicer, A, Smith, K, Spicer, A., Atherton, P.J.   +21 more
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Differential response of skeletal muscles to mTORC1 signaling during atrophy and hypertrophy [PDF]

, 2013
BACKGROUND: Skeletal muscle mass is determined by the balance between protein synthesis and degradation. Mammalian target of rapamycin complex 1 (mTORC1) is a master regulator of protein translation and has been implicated in the control of muscle mass ...
Handschin, Christoph, Bentzinger, C. Florian, Guridi, Maitea, Castets, Perrine, Hall, Michael N, Tintignac, Lionel A., Hall, Michael N., Perrine Castets, Romanino, Klaas, Tintignac, Lionel, Rüegg, Markus A, Michael N Hall, Lin, Shuo, Markus A Rüegg, Bentzinger, C Florian, Christoph Handschin, Serge Summermatter, Summermatter, Serge, C Bentzinger, Klaas Romanino, Maitea Guridi, Shuo Lin, Rüegg, Markus A., Lionel A Tintignac   +23 more
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Cerebral atrophy in mild cognitive impairment and Alzheimer disease: rates and acceleration. [PDF]

, 2013
OBJECTIVE: To quantify the regional and global cerebral atrophy rates and assess acceleration rates in healthy controls, subjects with mild cognitive impairment (MCI), and subjects with mild Alzheimer disease (AD).
Manning, Emily N, Manning, EN, Leung, Kelvin K, Leung, Kelvin K., Bartlett, Jonathan W., Fox, Nick C, Fox, Nick C., Barnes, Josephine, Ourselin, Sebastien, Alzheimer's Disease Neuroimaging Initiative, Bartlett, Jonathan W, Bartlett, JW, Ourselin, S, Fox, NC, Manning, Emily N., Barnes, J, Leung, KK   +16 more
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Leucine Supplementation Decreases HDAC4 Expression and Nuclear Localization in Skeletal Muscle Fiber of Rats Submitted to Hindlimb Immobilization

Cells, 2020
In this study we surveyed a rat skeletal muscle RNA-Seq for genes that are induced by hindlimb immobilization and, in turn, become attenuated by leucine supplementation.
Paula K. N. Alves, André Cruz, William J. Silva, Siegfried Labeit, Anselmo S. Moriscot   +4 more
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Secondary mastopexy with exchange of prosthesis: mirror “D” technique [PDF]

Revista Brasileira de Cirurgia Plástica, 2018
Introduction: Breast implantation combined with mastopexy is challenging, not only because a standard procedure is lacking, but also because of the high potential for complications, including a high rate of post-surgical revision. Originally intended for
Juan Carlos Sánchez López, Patrícia Erazo   +1 more
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Changes in Behaviour and Proxies of Physiology Suggest Individual Variation in the Building of Migratory Phenotypes in Preparation for Long-Distance Flights

Frontiers in Ecology and Evolution, 2022
Long-distance migration in birds is a complex syndrome that involves high energy costs and, in some species, substantial physiological re-organisation.
Tess Handby, Julia Slezacek, Sara Lupi, Kendrew Colhoun, Xavier A. Harrison, Stuart Bearhop   +5 more
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