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Items: 1 to 20 of 107

1.

Three siblings with progressive respiratory distress as infants.

Breivik N, Fiskerstrand T, Sand T, Vogt C.

Tidsskr Nor Laegeforen. 2013 Aug 6;133(14):1459-63. doi: 10.4045/tidsskr.12.0844. English, Norwegian. No abstract available.

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.

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
4.

Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy.

Sangiuolo F, Filareto A, Giardina E, Nardone AM, Pilu G, Pietropolli A, Bertini E, Novelli G.

Prenat Diagn. 2004 Oct;24(10):839-41. No abstract available.

PMID:
15503272
5.

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.

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.

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
8.

[Spinal muscular atrophy-type I with respiratory distress].

Calderón-Rodríguez S, Cantarín-Extremera V, García-Teresa MÁ, Nieto-Moro M, Casado-Flores J, Martín-Del Valle F, Duat-Rodríguez A.

Rev Neurol. 2013 May 1;56(9):493-5. Spanish.

9.

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.

Stalpers XL, Verrips A, Poll-The BT, Cobben JM, Snoeck IN, de Coo IF, Brooks A, Bulk S, Gooskens R, Fock A, Verschuuren-Bemelmans C, Sinke RJ, de Visser M, Lemmink HH.

Neuromuscul Disord. 2013 Jun;23(6):461-8. doi: 10.1016/j.nmd.2013.03.002. Epub 2013 Apr 6.

PMID:
23566544
10.

Severe spinal muscular atrophy variant associated with congenital bone fractures.

Felderhoff-Mueser U, Grohmann K, Harder A, Stadelmann C, Zerres K, Bührer C, Obladen M.

J Child Neurol. 2002 Sep;17(9):718-21.

PMID:
12503654
11.

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
12.

[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
13.

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
14.

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
15.

[Acute respiratory insufficiency as the initial clinical manifestation of spinal muscular atrophy].

Poets C, Heyer R, von der Hardt H, Walter GF.

Monatsschr Kinderheilkd. 1990 Mar;138(3):157-9. German.

PMID:
2352537
16.

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.

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.

A new mutation of IGHMBP2 gene.

Guenther UP, Schuelke M, Grohmann K, Varon R.

Pediatr Neurol. 2006 Feb;34(2):168. No abstract available.

PMID:
16458836
19.

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
20.

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
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