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Items: 1 to 20 of 188

1.

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.

PMID:
24681663
2.

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.

PMID:
15269181
3.

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
4.

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.

5.

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
6.

Spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Kaindl AM, Guenther UP, Rudnik-Schöneborn S, Varon R, Zerres K, Schuelke M, Hübner C, von Au K.

J Child Neurol. 2008 Feb;23(2):199-204. doi: 10.1177/0883073807310989.

PMID:
18263757
7.

Treatment with trkC agonist antibodies delays disease progression in neuromuscular degeneration (nmd) mice.

Ruiz R, Lin J, Forgie A, Foletti D, Shelton D, Rosenthal A, Tabares L.

Hum Mol Genet. 2005 Jul 1;14(13):1825-37. Epub 2005 May 11.

PMID:
15888478
8.

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.

9.

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C.

Nat Genet. 2001 Sep;29(1):75-7.

PMID:
11528396
10.

Therapeutic potential of PEGylated insulin-like growth factor I for skeletal muscle disease evaluated in two murine models of muscular dystrophy.

Gehrig SM, van der Poel C, Hoeflich A, Naim T, Lynch GS, Metzger F.

Growth Horm IGF Res. 2012 Apr;22(2):69-75. doi: 10.1016/j.ghir.2012.02.004. Epub 2012 Mar 15.

PMID:
22424862
11.

Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophy.

Simon CM, Jablonka S, Ruiz R, Tabares L, Sendtner M.

Hum Mol Genet. 2010 Mar 15;19(6):973-86. doi: 10.1093/hmg/ddp562. Epub 2009 Dec 18.

PMID:
20022887
12.

Therapeutic effects of PEGylated insulin-like growth factor I in the pmn mouse model of motoneuron disease.

Jablonka S, Holtmann B, Sendtner M, Metzger F.

Exp Neurol. 2011 Dec;232(2):261-9. doi: 10.1016/j.expneurol.2011.09.015. Epub 2011 Sep 17.

PMID:
21963648
13.

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.

Vanoli F, Rinchetti P, Porro F, Parente V, Corti S.

J Cell Mol Med. 2015 Sep;19(9):2058-66. doi: 10.1111/jcmm.12606. Epub 2015 Jun 20. Review.

14.

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

Jędrzejowska M, Madej-Pilarczyk A, Fidziańska A, Mierzewska H, Pronicka E, Obersztyn E, Gos M, Pronicki M, Kmieć T, Migdał M, Mierzewska-Schmidt M, Walczak-Wojtkowska I, Konopka E, Hausmanowa-Petrusewicz I.

Eur J Paediatr Neurol. 2014 Mar;18(2):183-92. doi: 10.1016/j.ejpn.2013.11.006. Epub 2013 Dec 15.

PMID:
24388491
15.

Growing up with spinal muscular atrophy with respiratory distress (SMARD1).

Hamilton MJ, Longman C, O'Hara A, Kirkpatrick M, McWilliam R.

Neuromuscul Disord. 2015 Feb;25(2):169-71. doi: 10.1016/j.nmd.2014.10.005. Epub 2014 Oct 22.

PMID:
25454169
16.

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.

Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, von Au K, Schuelke M.

Hum Mutat. 2007 Aug;28(8):808-15.

PMID:
17431882
17.

IGF-1R Reduction Triggers Neuroprotective Signaling Pathways in Spinal Muscular Atrophy Mice.

Biondi O, Branchu J, Ben Salah A, Houdebine L, Bertin L, Chali F, Desseille C, Weill L, Sanchez G, Lancelin C, Aïd S, Lopes P, Pariset C, Lécolle S, Côté J, Holzenberger M, Chanoine C, Massaad C, Charbonnier F.

J Neurosci. 2015 Aug 26;35(34):12063-79. doi: 10.1523/JNEUROSCI.0608-15.2015.

18.

Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.

de Planell-Saguer M, Schroeder DG, Rodicio MC, Cox GA, Mourelatos Z.

Hum Mol Genet. 2009 Jun 15;18(12):2115-26. doi: 10.1093/hmg/ddp134. Epub 2009 Mar 19.

19.

Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy.

Palazzolo I, Stack C, Kong L, Musaro A, Adachi H, Katsuno M, Sobue G, Taylor JP, Sumner CJ, Fischbeck KH, Pennuto M.

Neuron. 2009 Aug 13;63(3):316-28. doi: 10.1016/j.neuron.2009.07.019.

20.

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

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