Concepedia

Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject

Lorena Mosca, Christian Lunetta, Claudia Tarlarini, Francesca Avemaria, Eleonora Maestri, Mario Melazzini, Massimo Corbo, Silvana Penco

Neurobiology of Aging · 2012 · 46 citations · 14 references

DOI

Concepts

References

14

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.4K citations · Full text

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Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

Manuela Neumann, Deepak M. Sampathu, Linda K. Kwong et al. · Science · 2006 · 6.5K citations

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Alan E. Renton, Elisa Majounie, Adrian J. Waite et al. · Neuron · 2011 · 4.4K citations · Full text

, , +8

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Edor Kabashi, Paul N. Valdmanis, Patrick A. Dion et al. · Nature Genetics · 2008 · 1.5K citations

, , +10

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

Nicola J. Rutherford, Yong‐Jie Zhang, Matt Baker et al. · PLoS Genetics · 2008 · 458 citations · Full text

, , +13