Concepedia

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

Oronzo Scarciolla, Liborio Stuppia, Maria Vittoria De Angelis, S Murru, Chiara Palka, Rossella Giuliani, Marta Pace, Antonio Di Muzio, Isabella Torrente, Annunziata Morella,

Neurogenetics · 2006 · 69 citations · 21 references

DOI

Concepts

References

21

Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 4K citations · Full text

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Jan P. Schouten · Nucleic Acids Research · 2002 · 2.7K citations · Full text

, , +16

Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

Markus Feldkötter, Verena Schwarzer, Radu Wirth et al. · The American Journal of Human Genetics · 2002 · 1K citations · Full text

, , +8

International SMA Consortium Meeting (26–28 June 1992, Bonn, Germany)

Theodore L. Munsat, Kay E. Davies · Neuromuscular Disorders · 1992 · 655 citations

, , +1

Natural History in Proximal Spinal Muscular Atrophy

Klaus Zerres · Archives of Neurology · 1995 · 557 citations

, , +10