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Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
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Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

YIMIN HUA ; SAHASHI, Kentaro ; RIGO, Frank ; HUNG, Gene ; HOREV, Guy ; FRANK BENNETT, C ; KRAINER, Adrian R

Nature (London), 2011-10, Vol.478 (7367), p.123-126 [Periódico revisado por pares]

London: Nature Publishing Group

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Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
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Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

Burghes, Arthur H. M ; Beattie, Christine E

Nature reviews. Neuroscience, 2009-08, Vol.10 (8), p.597-609 [Periódico revisado por pares]

London: Nature Publishing Group

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3
Induced pluripotent stem cells from a spinal muscular atrophy patient
Induced pluripotent stem cells from a spinal muscular atrophy patient
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Induced pluripotent stem cells from a spinal muscular atrophy patient

Thomson, James A ; Lorson, Christian L ; Yu, Junying ; Mattis, Virginia B ; Ebert, Allison D ; Rose, Ferrill F ; Svendsen, Clive N

Nature, 2009-01, Vol.457 (7227), p.277-280 [Periódico revisado por pares]

London: Nature Publishing Group

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4
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
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Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

Deng, Han-Xiang ; Siddique, Teepu ; Klein, Christopher J ; Yan, Jianhua ; Shi, Yong ; Wu, Yanhong ; Fecto, Faisal ; Yau, Hau-Jie ; Yang, Yi ; Zhai, Hong ; Siddique, Nailah ; Hedley-Whyte, E Tessa ; DeLong, Robert ; Martina, Marco ; Dyck, Peter J

Nature genetics, 2010-02, Vol.42 (2), p.165-169 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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5
Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy
Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy
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Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy

Ling, Karen K. Y ; Gibbs, Rebecca M ; Feng, Zhihua ; Ko, Chien-Ping

Human molecular genetics, 2012-01, Vol.21 (1), p.185-195 [Periódico revisado por pares]

Oxford: Oxford University Press

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6
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
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Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

Kariya, Shingo ; Park, Gyu-Hwan ; Maeno-Hikichi, Yuka ; Leykekhman, Olga ; Lutz, Cathleen ; Arkovitz, Marc S. ; Landmesser, Lynn T. ; Monani, Umrao R.

Human molecular genetics, 2008-08, Vol.17 (16), p.2552-2569 [Periódico revisado por pares]

Oxford: Oxford University Press

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7
Cardiac defects contribute to the pathology of spinal muscular atrophy models
Cardiac defects contribute to the pathology of spinal muscular atrophy models
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Cardiac defects contribute to the pathology of spinal muscular atrophy models

Shababi, Monir ; Habibi, Javad ; Yang, Hsiao T. ; Vale, Spencer M. ; Sewell, Will A. ; Lorson, Christian L.

Human molecular genetics, 2010-10, Vol.19 (20), p.4059-4071 [Periódico revisado por pares]

Oxford: Oxford University Press

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8
Rapid atrophy of the lumbar multifidus follows experimental disc or nerve root injury
Rapid atrophy of the lumbar multifidus follows experimental disc or nerve root injury
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Rapid atrophy of the lumbar multifidus follows experimental disc or nerve root injury

HODGES, Paul ; HOLM, Allison Kaigle ; HANSSON, Tommy ; HOLM, Sten

Spine (Philadelphia, Pa. 1976), 2006-12, Vol.31 (25), p.2926-2933 [Periódico revisado por pares]

Philadelphia, PA: Lippincott

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9
The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin
The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin
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The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin

Nölle, Anna ; Zeug, Andre ; van Bergeijk, Jeroen ; Tönges, Lars ; Gerhard, Ralf ; Brinkmann, Hella ; Al Rayes, Sarah ; Hensel, Niko ; Schill, Yvonne ; Apkhazava, David ; Jablonka, Sibylle ; O'mer, Jana ; Kumar Srivastav, Ratnesh ; Baasner, Anne ; Lingor, Paul ; Wirth, Brunhilde ; Ponimaskin, Evgeni ; Niedenthal, Rainer ; Grothe, Claudia ; Claus, Peter

Human molecular genetics, 2011-12, Vol.20 (24), p.4865-4878 [Periódico revisado por pares]

Oxford: Oxford University Press

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10
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy
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Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

Mutsaers, Chantal A ; Wishart, Thomas M ; Lamont, Douglas J ; Riessland, Markus ; Schreml, Julia ; Comley, Laura H ; Murray, Lyndsay M ; Parson, Simon H ; Lochmüller, Hanns ; Wirth, Brunhilde ; Talbot, Kevin ; Gillingwater, Thomas H

Human molecular genetics, 2011-11, Vol.20 (22), p.4334-4344 [Periódico revisado por pares]

Oxford: Oxford University Press

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