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Items: 20

1.

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
2.

Molecular and cellular basis of spinal muscular atrophy.

Jablonka S, Sendtner M.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):144-9. Review.

PMID:
13129800
3.

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
4.

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

Ogino S, Wilson RB.

Hum Genet. 2002 Dec;111(6):477-500. Epub 2002 Oct 3. Review.

PMID:
12436240
5.

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
6.

Spinal muscular atrophy: molecular genetics and diagnostics.

Ogino S, Wilson RB.

Expert Rev Mol Diagn. 2004 Jan;4(1):15-29. Review.

PMID:
14711346
7.

Spinal muscular atrophy: untangling the knot?

Biros I, Forrest S.

J Med Genet. 1999 Jan;36(1):1-8. Review.

8.

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
9.

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.

Vanoli F, Rinchetti P, Porro F, Parente V, Corti S.

J Cell Mol Med. 2015 Sep;19(9):2058-66. doi: 10.1111/jcmm.12606. Epub 2015 Jun 20. Review.

10.

Spinal muscular atrophy: state-of-the-art and therapeutic perspectives.

Wirth B.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2002 Jun;3(2):87-95. Review.

PMID:
12215230
11.

The role of RNP biogenesis in spinal muscular atrophy.

Chari A, Paknia E, Fischer U.

Curr Opin Cell Biol. 2009 Jun;21(3):387-93. doi: 10.1016/j.ceb.2009.02.004. Epub 2009 Mar 13. Review.

PMID:
19286363
12.

The molecular bases of spinal muscular atrophy.

Frugier T, Nicole S, Cifuentes-Diaz C, Melki J.

Curr Opin Genet Dev. 2002 Jun;12(3):294-8. Review.

PMID:
12076672
13.

Molecular mechanisms in spinal muscular atrophy: models and perspectives.

Sendtner M.

Curr Opin Neurol. 2001 Oct;14(5):629-34. Review.

PMID:
11562575
14.

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
15.

Exploring the mammalian neuromuscular system by analysis of mutations: spinal muscular atrophy and myotonia.

Jockusch H, Kaupmann K, Gronemeier M, Schleef M, Klocke R.

Prog Neurobiol. 1994 Feb;42(2):313-7. Review.

PMID:
8008830
16.

[Proximal spinal muscular atrophy in the adult].

Serratrice G.

Neurologia. 1996 Dec;11 Suppl 5:66-71. Review. Spanish.

PMID:
9044575
17.

Genetics of pediatric neuromuscular disease.

Strober JB.

Curr Opin Pediatr. 2000 Dec;12(6):549-53. Review.

PMID:
11106273
18.

From enigmatic to problematic: the new molecular genetics of childhood spinal muscular atrophy.

Crawford TO.

Neurology. 1996 Feb;46(2):335-40. Review. No abstract available.

PMID:
8614490
19.

When is a deletion not a deletion? When it is converted.

Burghes AH.

Am J Hum Genet. 1997 Jul;61(1):9-15. Review. No abstract available.

20.

[Spinal progressive muscular atrophy].

Shimizu T, Atsumi T.

Ryoikibetsu Shokogun Shirizu. 1999;(27 Pt 2):384-7. Review. Japanese. No abstract available.

PMID:
10434680

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