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Items: 1 to 20 of 545

1.

Clinical and genetic study of spinal muscular atrophies in Oman.

Koul R, Al Futaisi A, Chacko A, Rao V, Simsek M, Muralitharan S, Ganguly SS, Bayoumi R.

J Child Neurol. 2007 Oct;22(10):1227-30.

PMID:
17940251
2.

Spinal muscular atrophy diagnostics.

Prior TW.

J Child Neurol. 2007 Aug;22(8):952-6. Review.

PMID:
17761649
3.

Molecular mechanisms of spinal muscular atrophy.

Sumner CJ.

J Child Neurol. 2007 Aug;22(8):979-89. Review.

PMID:
17761653
4.

Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients.

Dastur RS, Gaitonde PS, Khadilkar SV, Udani VP, Nadkarni JJ.

Neurol India. 2006 Sep;54(3):255-9.

5.

Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population.

Zaldívar T, Montejo Y, Acevedo AM, Guerra R, Vargas J, Garofalo N, Alvarez R, Alvarez MA, Hardiman O.

Neurology. 2005 Aug 23;65(4):636-8.

PMID:
16116135
6.

SMN1 deletions among singaporean patients with spinal muscular atrophy.

Lai AH, Tan ES, Law HY, Yoon CS, Ng IS.

Ann Acad Med Singapore. 2005 Jan;34(1):73-7.

7.

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
8.

A clinical and genetic study of spinal muscular atrophy.

Mishra VN, Kalita J, Kesari A, Mitta B, Shankar SK, Misra UK.

Electromyogr Clin Neurophysiol. 2004 Jul-Aug;44(5):307-12.

PMID:
15378871
9.

Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis.

Parsons DW, McAndrew PE, Allinson PS, Parker WD Jr, Burghes AH, Prior TW.

J Med Genet. 1998 Aug;35(8):674-6.

10.

Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.

Voutoufianakis S, Psoni S, Vorgia P, Tsekoura F, Kekou K, Traeger-Synodinos J, Kitsiou S, Kanavakis E, Fryssira H.

Eur J Paediatr Neurol. 2007 Jul;11(4):235-9. Epub 2007 Feb 5.

PMID:
17276711
11.

Prenatal diagnosis for risk of spinal muscular atrophy.

Cuscó I, Barceló MJ, Soler C, Parra J, Baiget M, Tizzano E.

BJOG. 2002 Nov;109(11):1244-9.

12.

Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene.

Yiu EM, Ravat S, Ryan MM, Shield LK, Smith LJ, Kornberg AJ.

Muscle Nerve. 2008 Jul;38(1):930-2. doi: 10.1002/mus.21013.

PMID:
18508340
13.

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.

Arkblad EL, Darin N, Berg K, Kimber E, Brandberg G, Lindberg C, Holmberg E, Tulinius M, Nordling M.

Neuromuscul Disord. 2006 Dec;16(12):830-8. Epub 2006 Oct 17.

PMID:
17049859
14.

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

Bürglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, Clermont O, Raclin V, Landrieu P, Verloes A, Munnich A, Melki J.

J Clin Invest. 1996 Sep 1;98(5):1130-2.

15.

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.

16.

Molecular diagnosis of spinal muscular atrophy.

Stewart H, Wallace A, McGaughran J, Mountford R, Kingston H.

Arch Dis Child. 1998 Jun;78(6):531-5.

17.

Descriptive epidemiology of spinal muscular atrophy type I in Estonia.

Vaidla E, Talvik I, Kulla A, Kahre T, Hamarik M, Napa A, Metsvaht T, Piirsoo A, Talvik T.

Neuroepidemiology. 2006;27(3):164-8.

PMID:
17035693
18.

Acute onset of infantile spinal muscular atrophy.

Ravid S, Topper L, Eviatar L.

Pediatr Neurol. 2001 May;24(5):371-2.

PMID:
11516612
19.

Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion.

García-Cabezas MA, García-Alix A, Martín Y, Gutiérrez M, Hernández C, Rodríguez JI, Morales C.

Acta Neuropathol. 2004 May;107(5):475-8. Epub 2004 Feb 13.

PMID:
14968368
20.

Spinal muscular atrophy: clinical classification and disease heterogeneity.

Russman BS.

J Child Neurol. 2007 Aug;22(8):946-51. Review.

PMID:
17761648

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