Literature DB >> 7630275

SMN gene deletion in variant of infantile spinal muscular atrophy.

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

Abstract

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Year:  1995        PMID： 7630275     DOI： 10.1016/s0140-6736(95)92206-7

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  21 in total

1.  Spinal muscle atrophy type 1 (Werdnig-Hoffman disease) with complex cardiac malformation.

Authors:  Wael El-Matary; Sunanda Kotagiri; Duncan Cameron; Ian Peart
Journal:  Eur J Pediatr       Date:  2004-06       Impact factor: 3.183

2.  SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.

Authors:  A Hanash; E Leguern; N Birouk; O Clermont; J Pouget; P Bouche; A Munnich; A Brice; J Melki
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

3.  Systemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy.

Authors:  Laurent P Bogdanik; Melissa A Osborne; Crystal Davis; Whitney P Martin; Andrew Austin; Frank Rigo; C Frank Bennett; Cathleen M Lutz
Journal:  Proc Natl Acad Sci U S A       Date:  2015-10-12       Impact factor: 11.205

Review 4.  Mechanisms for axon maintenance and plasticity in motoneurons: alterations in motoneuron disease.

Authors:  Sibylle Jablonka; Benjamin Dombert; Esther Asan; Michael Sendtner
Journal:  J Anat       Date:  2013-09-06       Impact factor: 2.610

5.  Unusual molecular findings in autosomal recessive spinal muscular atrophy.

Authors:  G Matthijs; E Schollen; E Legius; K Devriendt; N Goemans; H Kayserili; M Y Apäk; J J Cassiman
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

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

Authors:  L Bürglen; J Amiel; L Viollet; S Lefebvre; P Burlet; O Clermont; V Raclin; P Landrieu; A Verloes; A Munnich; J Melki
Journal:  J Clin Invest       Date:  1996-09-01       Impact factor: 14.808

Review 7.  Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?

Authors:  Monir Shababi; Christian L Lorson; Sabine S Rudnik-Schöneborn
Journal:  J Anat       Date:  2013-07-22       Impact factor: 2.610

8.  Developmental and degenerative cardiac defects in the Taiwanese mouse model of severe spinal muscular atrophy.

Authors:  Gillian K Maxwell; Eva Szunyogova; Hannah K Shorrock; Thomas H Gillingwater; Simon H Parson
Journal:  J Anat       Date:  2018-02-22       Impact factor: 2.610

9.  Peptide nanoparticle delivery of charge-neutral splice-switching morpholino oligonucleotides.

Authors:  Peter Järver; Eman M Zaghloul; Andrey A Arzumanov; Amer F Saleh; Graham McClorey; Suzan M Hammond; Mattias Hällbrink; Ülo Langel; C I Edvard Smith; Matthew J A Wood; Michael J Gait; Samir El Andaloussi
Journal:  Nucleic Acid Ther       Date:  2015-01-16       Impact factor: 5.486

10.  Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles.

Authors:  Mario Sanhueza; Luigi Zechini; Trudy Gillespie; Giuseppa Pennetta
Journal:  Biol Open       Date:  2014-01-15       Impact factor: 2.422
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