The molecular bases of spinal muscular atrophy
- 1 June 2002
- journal article
- review article
- Published by Elsevier BV in Current Opinion in Genetics & Development
- Vol. 12 (3), 294-298
- https://doi.org/10.1016/s0959-437x(02)00301-5
Abstract
No abstract availableKeywords
This publication has 50 references indexed in Scilit:
- Deletion of Murine SMN Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular DystrophyThe Journal of cell biology, 2001
- An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMNHuman Molecular Genetics, 2000
- A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophyProceedings of the National Academy of Sciences of the United States of America, 1999
- Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA)Human Molecular Genetics, 1997
- Frameshift mutation in the survival motor neuron gene in a severe case of SMA type IHuman Molecular Genetics, 1996
- An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining geneHuman Molecular Genetics, 1996
- A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patientsNature Genetics, 1995
- Identification and characterization of a spinal muscular atrophy-determining geneCell, 1995
- De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular AtrophiesScience, 1994
- International SMA CollaborationNeuromuscular Disorders, 1991