Concepedia

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

Ivan Litvinenko, Bob Asselbergh, Le­onardo Almeida-Souza, Teodora Chamova, Thomas Geuens, Elke Ydens, Joy Irobi, Els De Vriendt, Vicky De Winter, Tinne Ooms,

The American Journal of Human Genetics · 2013 · 140 citations · 31 references

DOIFull text

Open access

Concepts

References

31

Molecular basis of base substitution hotspots in Escherichia coli

Christine Coulondre, Jeffrey H Miller, Philip J. Farabaugh et al. · Nature · 1978 · 1.2K citations

, , +10

Amount and distribution of 5-methylcytosine in human DNA from different types of tissues or cells

Melanie Ehrlich, Miguel A. Gama-Sosa, Lan-Hsiang Huang et al. · Nucleic Acids Research · 1982 · 1K citations · Full text

, , +14

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

Agnes L. Nishimura, Miguel Mitne‐Neto, Helga Cristina Almeida da Silva et al. · The American Journal of Human Genetics · 2004 · 979 citations · Full text

, , +12

Mutant dynactin in motor neuron disease

Imke Puls, Catherine Jonnakuty, Bernadette H. LaMonte et al. · Nature Genetics · 2003 · 950 citations · Full text

, , +13

The CpG dinucleotide and human genetic disease

D.N. Cooper, Hagop Youssoufian · Human Genetics · 1988 · 941 citations

, , +14