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Items: 1 to 20 of 96

1.

Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.

Guenther UP, Handoko L, Varon R, Stephani U, Tsao CY, Mendell JR, Lützkendorf S, Hübner C, von Au K, Jablonka S, Dittmar G, Heinemann U, Schuetz A, Schuelke M.

J Mol Med (Berl). 2009 Jan;87(1):31-41. doi: 10.1007/s00109-008-0402-7. Epub 2008 Sep 18.

PMID:
18802676
2.

Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.

Luan X, Huang X, Liu X, Zhou H, Chen S, Cao L.

Brain Dev. 2016 Aug;38(7):685-9. doi: 10.1016/j.braindev.2016.02.001. Epub 2016 Feb 24. Review.

PMID:
26922252
3.

[A rare cause of respiratory failure in infants: distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].

Chalançon M, Debillon T, Dieterich K, Commare MC.

Arch Pediatr. 2012 Oct;19(10):1082-5. doi: 10.1016/j.arcped.2012.07.020. Epub 2012 Sep 13. French.

PMID:
22981475
4.

Variations of IGHMBP2 gene was not the major cause of Han Chinese patients with non-5q-spinal muscular atrophies.

Lin X, Zhang QJ, He J, Lin MT, Murong SX, Wang N, Chen WJ.

J Child Neurol. 2014 Aug;29(8):NP35-9. doi: 10.1177/0883073813497827. Epub 2013 Sep 9.

PMID:
24022109
5.

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
6.

Mutation of gene in spinal muscular atrophy respiratory distress type I.

Wong VC, Chung BH, Li S, Goh W, Lee SL.

Pediatr Neurol. 2006 Jun;34(6):474-7.

PMID:
16765827
7.

A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1.

Tachi N, Kikuchi S, Kozuka N, Nogami A.

Pediatr Neurol. 2005 Apr;32(4):288-90.

PMID:
15797190
8.

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.

Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R.

Hum Genet. 2004 Sep;115(4):319-26.

PMID:
15290238
9.

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
10.

Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.

Pierson TM, Tart G, Adams D, Toro C, Golas G, Tifft C, Gahl W.

Neuromuscul Disord. 2011 May;21(5):353-5. doi: 10.1016/j.nmd.2011.02.005. Epub 2011 Feb 25.

11.

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).

Guenther UP, Handoko L, Laggerbauer B, Jablonka S, Chari A, Alzheimer M, Ohmer J, Plöttner O, Gehring N, Sickmann A, von Au K, Schuelke M, Fischer U.

Hum Mol Genet. 2009 Apr 1;18(7):1288-300. doi: 10.1093/hmg/ddp028. Epub 2009 Jan 20.

PMID:
19158098
12.

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.

PMID:
14506069
13.

The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.

Lim SC, Bowler MW, Lai TF, Song H.

Nucleic Acids Res. 2012 Nov;40(21):11009-22. doi: 10.1093/nar/gks792. Epub 2012 Sep 10.

14.

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmüller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloğlu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schöneborn S, Hübner C.

Ann Neurol. 2003 Dec;54(6):719-24.

PMID:
14681881
15.

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
16.

Infantile spinal muscular atrophy with respiratory distress type 1: a case report.

AlSaman A, Tomoum H.

J Child Neurol. 2010 Jun;25(6):764-9. doi: 10.1177/0883073809344121. Epub 2010 Mar 1.

PMID:
20197267
17.

Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature.

Messina MF, Messina S, Gaeta M, Rodolico C, Salpietro Damiano AM, Lombardo F, Crisafulli G, De Luca F.

Eur J Paediatr Neurol. 2012 Jan;16(1):90-4. doi: 10.1016/j.ejpn.2011.10.005. Epub 2011 Nov 18. Review.

PMID:
22099258
18.

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.

Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L.

Hum Mutat. 2004 May;23(5):525-6.

PMID:
15108294
19.

One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.

Litvinenko I, Kirov AV, Georgieva R, Todorov T, Malinova Z, Mitev V, Todorova A.

J Child Neurol. 2014 Jun;29(6):799-802. doi: 10.1177/0883073813477203. Epub 2013 Feb 28.

PMID:
23449687
20.

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.

Giannini A, Pinto AM, Rossetti G, Prandi E, Tiziano D, Brahe C, Nardocci N.

Intensive Care Med. 2006 Nov;32(11):1851-5. Epub 2006 Sep 9. Review.

PMID:
16964485

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