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Items: 1 to 20 of 139

1.

Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ.

Krieger F, Elflein N, Ruiz R, Guerra J, Serrano AL, Asan E, Tabares L, Jablonka S.

Neurobiol Dis. 2013 Jun;54:169-82. doi: 10.1016/j.nbd.2012.12.010. Epub 2013 Jan 4.

PMID:
23295857
2.

The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Diers A, Kaczinski M, Grohmann K, Hübner C, Stoltenburg-Didinger G.

Acta Neuropathol. 2005 Sep;110(3):289-97. Epub 2005 Jul 16.

PMID:
16025284
3.

Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Grohmann K, Rossoll W, Kobsar I, Holtmann B, Jablonka S, Wessig C, Stoltenburg-Didinger G, Fischer U, Hübner C, Martini R, Sendtner M.

Hum Mol Genet. 2004 Sep 15;13(18):2031-42. Epub 2004 Jul 21.

4.

Polyethylene glycol-coupled IGF1 delays motor function defects in a mouse model of spinal muscular atrophy with respiratory distress type 1.

Krieger F, Elflein N, Saenger S, Wirthgen E, Rak K, Frantz S, Hoeflich A, Toyka KV, Metzger F, Jablonka S.

Brain. 2014 May;137(Pt 5):1374-93. doi: 10.1093/brain/awu059. Epub 2014 Mar 27.

5.

Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy.

Maddatu TP, Garvey SM, Schroeder DG, Hampton TG, Cox GA.

Hum Mol Genet. 2004 Jun 1;13(11):1105-15. Epub 2004 Apr 6.

6.

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

Ling KK, Gibbs RM, Feng Z, Ko CP.

Hum Mol Genet. 2012 Jan 1;21(1):185-95. doi: 10.1093/hmg/ddr453. Epub 2011 Oct 3.

7.

Motoneuron transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1).

Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Del Bo R, Papadimitriou D, Locatelli F, Mezzina N, Gianni F, Bresolin N, Comi GP.

J Neurosci. 2009 Sep 23;29(38):11761-71. doi: 10.1523/JNEUROSCI.2734-09.2009.

8.

Striking denervation of neuromuscular junctions without lumbar motoneuron loss in geriatric mouse muscle.

Chai RJ, Vukovic J, Dunlop S, Grounds MD, Shavlakadze T.

PLoS One. 2011;6(12):e28090. doi: 10.1371/journal.pone.0028090. Epub 2011 Dec 2.

9.

Synaptic defects in type I spinal muscular atrophy in human development.

Martínez-Hernández R, Bernal S, Also-Rallo E, Alías L, Barceló MJ, Hereu M, Esquerda JE, Tizzano EF.

J Pathol. 2013 Jan;229(1):49-61. doi: 10.1002/path.4080.

PMID:
22847626
10.

Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.

Pitt M, Houlden H, Jacobs J, Mok Q, Harding B, Reilly M, Surtees R.

Brain. 2003 Dec;126(Pt 12):2682-92. Epub 2003 Sep 23.

11.

Axonal defects in mouse models of motoneuron disease.

Jablonka S, Wiese S, Sendtner M.

J Neurobiol. 2004 Feb 5;58(2):272-86.

12.

Time course of preferential motor unit loss in the SOD1 G93A mouse model of amyotrophic lateral sclerosis.

Hegedus J, Putman CT, Gordon T.

Neurobiol Dis. 2007 Nov;28(2):154-64. Epub 2007 Jul 10.

PMID:
17766128
13.

Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for Spinal Muscular Atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing.

Voigt T, Meyer K, Baum O, Schümperli D.

Neuromuscul Disord. 2010 Nov;20(11):744-52. doi: 10.1016/j.nmd.2010.06.010. Epub 2010 Sep 15.

PMID:
20832308
14.

Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.

Corti S, Locatelli F, Papadimitriou D, Donadoni C, Del Bo R, Crimi M, Bordoni A, Fortunato F, Strazzer S, Menozzi G, Salani S, Bresolin N, Comi GP.

Hum Mol Genet. 2006 Jan 15;15(2):167-87. Epub 2005 Dec 8.

15.

Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy.

Simic G, Mladinov M, Seso Simic D, Jovanov Milosevic N, Islam A, Pajtak A, Barisic N, Sertic J, Lucassen PJ, Hof PR, Kruslin B.

Acta Neuropathol. 2008 Mar;115(3):313-26. Epub 2007 Dec 13.

PMID:
18075747
16.
17.

A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology.

Bowerman M, Murray LM, Beauvais A, Pinheiro B, Kothary R.

Neuromuscul Disord. 2012 Mar;22(3):263-76. doi: 10.1016/j.nmd.2011.09.007. Epub 2011 Nov 8.

PMID:
22071333
18.

Differentiation defects in primary motoneurons from a SMARD1 mouse model that are insensitive to treatment with low dose PEGylated IGF1.

Krieger F, Metzger F, Jablonka S.

Rare Dis. 2014 Jun 10;2:e29415. doi: 10.4161/rdis.29415. eCollection 2014.

19.

Atrophy and degeneration in sciatic nerve of presymptomatic mice carrying the Huntington's disease mutation.

Wade A, Jacobs P, Morton AJ.

Brain Res. 2008 Jan 10;1188:61-8. Epub 2007 Jul 14.

PMID:
18062944
20.

Selective vulnerability and pruning of phasic motoneuron axons in motoneuron disease alleviated by CNTF.

Pun S, Santos AF, Saxena S, Xu L, Caroni P.

Nat Neurosci. 2006 Mar;9(3):408-19. Epub 2006 Feb 12.

PMID:
16474388
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