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Items: 1 to 20 of 87

1.

A calm before the exome storm: coming together of dSMA and CMT2.

Hoffman EP, Talbot K.

Neurology. 2012 May 29;78(22):1706-7. doi: 10.1212/WNL.0b013e3182556c1f. Epub 2012 Mar 28. No abstract available.

PMID:
22459684
2.

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.

Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH.

Neurology. 2012 May 29;78(22):1714-20. doi: 10.1212/WNL.0b013e3182556c05. Epub 2012 Mar 28.

3.

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.

Punetha J, Monges S, Franchi ME, Hoffman EP, Cirak S, Tesi-Rocha C.

Pediatr Neurol. 2015 Feb;52(2):239-44. doi: 10.1016/j.pediatrneurol.2014.09.003. Epub 2014 Oct 5.

4.

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.

Tsurusaki Y, Saitoh S, Tomizawa K, Sudo A, Asahina N, Shiraishi H, Ito J, Tanaka H, Doi H, Saitsu H, Miyake N, Matsumoto N.

Neurogenetics. 2012 Nov;13(4):327-32. doi: 10.1007/s10048-012-0337-6. Epub 2012 Jul 31.

PMID:
22847149
5.

Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.

Harms MB, Allred P, Gardner R Jr, Fernandes Filho JA, Florence J, Pestronk A, Al-Lozi M, Baloh RH.

Neurology. 2010 Aug 10;75(6):539-46. doi: 10.1212/WNL.0b013e3181ec800c.

6.

Spinal muscular atrophies.

[No authors listed]

Lancet. 1990 Aug 4;336(8710):280-1. Review. No abstract available.

PMID:
1973974
7.

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T.

J Med Genet. 2012 Mar;49(3):179-83. doi: 10.1136/jmedgenet-2011-100542.

PMID:
22368300
8.

Spinal muscular atrophy of childhood: genetics.

Raymond FL.

Dev Med Child Neurol. 1997 Jun;39(6):419-20. Review. No abstract available.

9.
10.

[Localization of the spinal muscular atrophy gene by reverse genetic methods. Prospect of a gene on chromosome 5].

Melki J.

Rev Prat. 1991 Jun 21;41(18):1677-9. French. No abstract available.

PMID:
1857931
11.

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Bénichou B, Zeviani M, Le Paslier D, et al.

Science. 1994 Jun 3;264(5164):1474-7.

PMID:
7910982
12.

Pictorial essay of Werdnig-Hoffman disease.

Poggiani C, Ferrari D, Parati S, Torresani P.

Minerva Pediatr. 2009 Apr;61(2):237-8. No abstract available.

PMID:
19322128
13.

[The gene of spinal muscular atrophy localized. Possibilities for prenatal diagnosis].

Blennow ES, Bui TH, Söderhäll S, Anvret M, Nordenskjöld M.

Lakartidningen. 1993 Jan 27;90(4):269-75. Swedish. No abstract available.

PMID:
8433608
14.

Congenital autosomal dominant distal spinal muscular atrophy.

Adams C, Suchowersky O, Lowry RB.

Neuromuscul Disord. 1998 Aug;8(6):405-8. Review.

PMID:
9713859
15.

Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy.

Lim YM, Koh I, Park YM, Kim JJ, Kim DS, Kim HJ, Baik KH, Choi HY, Yang GS, Also-Rallo E, Tizzano EF, Gamez J, Park K, Yoo HW, Lee JK, Kim KK.

Neuromuscul Disord. 2012 May;22(5):394-400. doi: 10.1016/j.nmd.2011.11.006. Epub 2012 Jan 20.

PMID:
22264561
16.

[Proximal autosomal recessive types of spinal muscular atrophy].

Kolokolov OV, Iudina GK, Solovykh NN, Evgrafov OV.

Zh Nevrol Psikhiatr Im S S Korsakova. 2003;103(8):66-8. Russian.

PMID:
14564781
17.

SMN gene deletion in variant of infantile spinal muscular atrophy.

Bürglen L, Spiegel R, Ignatius J, Cobben JM, Landrieu P, Lefebvre S, Munnich A, Melki J.

Lancet. 1995 Jul 29;346(8970):316-7. No abstract available.

PMID:
7630275
18.

Linkage analysis of spinal muscular atrophy.

Daniels RJ, Thomas NH, MacKinnon RN, Lehner T, Ott J, Flint TJ, Dubowitz V, Ignatius J, Donner M, Zerres K, et al.

Genomics. 1992 Feb;12(2):335-9.

PMID:
1346777
19.

Genes for SMA: multum in parvo.

Lewin B.

Cell. 1995 Jan 13;80(1):1-5. Review. No abstract available.

20.

[Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies].

Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboulet S, Benichou B, Zeviani M, Le Paslier D, et al.

C R Seances Soc Biol Fil. 1994;188(5-6):495-8. Review. French.

PMID:
7780792

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