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Items: 1 to 20 of 96

1.

Epidemiology of spinal muscular atrophies in a sample of the Italian population.

Mostacciuolo ML, Danieli GA, Trevisan C, Müller E, Angelini C.

Neuroepidemiology. 1992;11(1):34-8.

PMID:
1608493
2.

Carrier screening for spinal muscular atrophy in Italian population.

Calì F, Ruggeri G, Chiavetta V, Scuderi C, Bianca S, Barone C, Ragalmuto A, Schinocca P, Vitello GA, Romano V, Musumeci S.

J Genet. 2014 Apr;93(1):179-81. No abstract available.

3.

Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw.

Spiegler AW, Hausmanowa-Pertrusewicz I, Borkowska J, Kłopocka A.

Hum Genet. 1990 Jul;85(2):211-4.

PMID:
2370051
4.

Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns.

Lyahyai J, Sbiti A, Barkat A, Ratbi I, Sefiani A.

Genet Test Mol Biomarkers. 2012 Mar;16(3):215-8. doi: 10.1089/gtmb.2011.0149. Epub 2011 Sep 27.

PMID:
21950724
5.
6.

[The spectrum of spinal muscular atrophies: a population study].

Rudenskaia GE, Mamedova RA.

Zh Nevrol Psikhiatr Im S S Korsakova. 1997;97(8):22-5. Russian.

PMID:
9343477
7.

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.

Capon F, Levato C, Bussaglia E, Lo Cicero S, Tizzano EF, Baiget M, Silani V, Pizzuti A, Novelli G, Dallapiccola B.

Hum Mutat. 1996;7(3):198-201.

PMID:
8829652
8.

[Quantitative analysis of the genes determining spinal muscular atrophy].

Nagymihály M, Herczegfalvi A, Tímár L, Karcagi V.

Ideggyogy Sz. 2009 Nov 30;62(11-12):390-7. Hungarian.

PMID:
20025129
9.

Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.

Botta A, Tacconelli A, Bagni I, Giardina E, Bonifazi E, Pietropolli A, Clementi M, Novelli G.

Neurology. 2005 Nov 22;65(10):1631-5.

PMID:
16301493
10.
11.

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.

Melki J, Sheth P, Abdelhak S, Burlet P, Bachelot MF, Lathrop MG, Frezal J, Munnich A.

Lancet. 1990 Aug 4;336(8710):271-3.

PMID:
1973971
12.

A clinical, epidemiological and genetic study of hereditary motor neuropathies in Benghazi, Libya.

Radhakrishnan K, Thacker AK, Maloo JC.

J Neurol. 1988 Sep;235(7):422-4.

PMID:
3221247
13.

Molecular analysis of the SMN1 and NAIP genes in Iranian patients with spinal muscular atrophy.

Derakhshandeh-Peykar P, Esmaili M, Ousati-Ashtiani Z, Rahmani M, Babrzadeh F, Farshidi S, Attaran E, Sajedifar MM, Farhud DD.

Ann Acad Med Singapore. 2007 Nov;36(11):937-41.

14.

Spinal muscular atrophies.

Darras BT.

Pediatr Clin North Am. 2015 Jun;62(3):743-66. doi: 10.1016/j.pcl.2015.03.010. Epub 2015 Apr 11. Review.

PMID:
26022173
15.

Molecular diagnosis of spinal muscular atrophy in Egyptians.

Shawky RM, Abd el-Aleem K, Rifaat MM, Moustafa A.

East Mediterr Health J. 2001 Jan-Mar;7(1-2):229-37.

PMID:
12596974
16.

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families.

Capon F, Levato C, Semprini S, Pizzuti A, Merlini L, Novelli G, Dallapiccola B.

Muscle Nerve. 1996 Mar;19(3):378-80. No abstract available.

PMID:
8606706
17.

Incidence of spinal muscular atrophy in Poland--more frequent than predicted?

Jedrzejowska M, Milewski M, Zimowski J, Zagozdzon P, Kostera-Pruszczyk A, Borkowska J, Sielska D, Jurek M, Hausmanowa-Petrusewicz I.

Neuroepidemiology. 2010;34(3):152-7. doi: 10.1159/000275492. Epub 2010 Jan 15.

PMID:
20090376
18.

[Population genetics of spinal muscular atrophy].

Rudenskaia GE, Mamedova RA, Petrin AN, El'chinova GI, Ginter EK.

Genetika. 1996 Mar;32(3):425-31. Russian.

PMID:
8723635
19.

Newborn and carrier screening for spinal muscular atrophy.

Prior TW, Snyder PJ, Rink BD, Pearl DK, Pyatt RE, Mihal DC, Conlan T, Schmalz B, Montgomery L, Ziegler K, Noonan C, Hashimoto S, Garner S.

Am J Med Genet A. 2010 Jul;152A(7):1608-16. doi: 10.1002/ajmg.a.33474.

PMID:
20578137

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