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Items: 1 to 20 of 320

1.

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
2.

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
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.

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
5.

Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy.

Rudnik-Schöneborn S, Goebel HH, Schlote W, Molaian S, Omran H, Ketelsen U, Korinthenberg R, Wenzel D, Lauffer H, Kreiss-Nachtsheim M, Wirth B, Zerres K.

Neurology. 2003 Mar 25;60(6):983-7.

PMID:
12654964
6.

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
7.

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
8.

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
9.

Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.

Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K.

Neuropediatrics. 1996 Feb;27(1):8-15.

PMID:
8677029
10.

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
11.

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
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.

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
14.

Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy.

Gitiaux C, Bergounioux J, Magen M, Quijano-Roy S, Blanc T, Bonnefont JP, Desguerre I.

J Child Neurol. 2013 Jun;28(6):787-90. doi: 10.1177/0883073812450209. Epub 2012 Jul 12.

PMID:
22791546
15.

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
16.

[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
17.
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.

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
20.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790

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