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Items: 1 to 20 of 178

1.

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
2.

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
3.

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
4.

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
5.

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
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.

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
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.

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
10.

The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.

Porro F, Rinchetti P, Magri F, Riboldi G, Nizzardo M, Simone C, Zanetta C, Faravelli I, Corti S.

J Neurol Sci. 2014 Nov 15;346(1-2):35-42. doi: 10.1016/j.jns.2014.09.010. Epub 2014 Sep 16. Review.

PMID:
25248952
11.

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
12.

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
13.

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
14.

Interfamilial phenotypic heterogeneity in SMARD1.

Joseph S, Robb SA, Mohammed S, Lillis S, Simonds A, Manzur AY, Walter S, Wraige E.

Neuromuscul Disord. 2009 Mar;19(3):193-5. doi: 10.1016/j.nmd.2008.11.013. Epub 2009 Jan 20.

PMID:
19157874
15.

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
16.

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
17.

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
18.

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
19.

Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Rudnik-Schöneborn S, Stolz P, Varon R, Grohmann K, Schächtele M, Ketelsen UP, Stavrou D, Kurz H, Hübner C, Zerres K.

Neuropediatrics. 2004 Jun;35(3):174-82.

PMID:
15248100
20.

Patient with spinal muscular atrophy with respiratory distress type 1 presenting initially with hypertonia.

Han C, Mai J, Tian T, He Y, Liao J, Wen F, Yi X, Yang Y.

Brain Dev. 2015 May;37(5):542-5. doi: 10.1016/j.braindev.2014.09.004. Epub 2014 Oct 1.

PMID:
25280635

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