Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.

Author:

Spranger S,Rudnik-Schoneborn S,Spranger M,Schachtele M,Zerres K,Wirth B

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference13 articles.

1. Workshop Report;Collaboration, International S.M.A.;Neuromusc Disord,1992

2. Natural history in proximal spinal muscular atrophy (SMA) - clinical analysis of 445 patients and suggestions for a modification of existing classification;Zerres, K.; Rudnik-Schoneborn, S.;Arch Neurol,1995

3. Identification and characterisation of a spinal muscular atrophy determing gene;Lefebvre, S.; Biirglen, L.; Reboullet, S.;Cell,1995

4. Deletions in the survival motor neuron gene on 5ql3 in autosomal recessive spinal muscular atrophy;Rodrigues, N.R.; Owen, N.; Talbot, K.; Ignatius, J.; Dubowitz, V.; Davies, K.E.;Hum Mol Genet,1995

5. Molecular analysis of candidate genes on chromosome 5q1 3 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals;Hahnen, E.; Forkert, R.; Marke, C.;Hum Mol Genet,1995

Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Other forms of spinal muscular atrophies;Handbook of Clinical Neurophysiology;2004

2. SMN2 deletion in childhood-onset spinal muscular atrophy;American Journal of Medical Genetics;2002-04-19

3. SMN2-deletion in childhood-onset spinal muscular atrophy;American Journal of Medical Genetics;2001

4. Spinale Muskelatrophien;Monogen bedingte Erbkrankheiten 1;2000

5. Association between centromeric deletions of theSMN gene and sporadic adult-onset lower motor neuron disease;Annals of Neurology;1998-05

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