PubMed (OMIM) for id: 388083

Year	Number of Results
1974	1
1989	1
1991	1
1995	2
1996	1
1998	1
1999	1
2001	1
2003	2
2004	1
2024	0

1

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. Guenther UP, et al. Hum Genet. 2004 Sep;115(4):319-26. doi: 10.1007/s00439-004-1156-0. Hum Genet. 2004. PMID: 15290238

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. Grohmann K, et al. Ann Neurol. 2003 Dec;54(6):719-24. doi: 10.1002/ana.10755. Ann Neurol. 2003. PMID: 14681881

3

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. Pitt M, et al. Brain. 2003 Dec;126(Pt 12):2682-92. doi: 10.1093/brain/awg278. Epub 2003 Sep 23. Brain. 2003. PMID: 14506069

4

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. Grohmann K, et al. Nat Genet. 2001 Sep;29(1):75-7. doi: 10.1038/ng703. Nat Genet. 2001. PMID: 11528396

5

Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.

Grohmann K, Wienker TF, Saar K, Rudnik-Schöneborn S, Stoltenburg-Didinger G, Rossi R, Novelli G, Nürnberg G, Pfeufer A, Wirth B, Reis A, Zerres K, Hübner C. Grohmann K, et al. Am J Hum Genet. 1999 Nov;65(5):1459-62. doi: 10.1086/302636. Am J Hum Genet. 1999. PMID: 10521314 Free PMC article. No abstract available.

6

Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele.

Cox GA, Mahaffey CL, Frankel WN. Cox GA, et al. Neuron. 1998 Dec;21(6):1327-37. doi: 10.1016/s0896-6273(00)80652-2. Neuron. 1998. PMID: 9883726 Free article.

7

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. Rudnik-Schöneborn S, et al. Neuropediatrics. 1996 Feb;27(1):8-15. doi: 10.1055/s-2007-973741. Neuropediatrics. 1996. PMID: 8677029

8

The mouse mutation progressive motor neuronopathy (pmn) maps to chromosome 13.

Brunialti AL, Poirier C, Schmalbruch H, Guénet JL. Brunialti AL, et al. Genomics. 1995 Sep 1;29(1):131-5. doi: 10.1006/geno.1995.1223. Genomics. 1995. PMID: 8530062

9

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.

Novelli G, Capon F, Tamisari L, Grandi E, Angelini C, Guerrini P, Dallapiccola B. Novelli G, et al. J Med Genet. 1995 Mar;32(3):216-9. doi: 10.1136/jmg.32.3.216. J Med Genet. 1995. PMID: 7783173 Free PMC article.

10

Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease.

Mellins RB, Hays AP, Gold AP, Berdon WE, Bowdler JD. Mellins RB, et al. Pediatrics. 1974 Jan;53(1):33-40. Pediatrics. 1974. PMID: 4809192 No abstract available.

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