Robert H. Brown

发表

Chorea-acanthocytosis: genetic linkage to chromosome 9q21.

M Farrall, A Danek, A. Monaco, 1997, American journal of human genetics.

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Pieter J. de Jong, Saeed Bohlega, Jing Liu, 1998, Nature Genetics.

Dysferlin mutations in Japanese Miyoshi myopathy

Y. Itoyama, I. Nonaka, Kayoko Saito, 2003, Neurology.

Dystrophin: The protein product of the duchenne muscular dystrophy locus

Eric P. Hoffman, Louis M. Kunkel, L. Kunkel, 1987, Cell.

Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression

Timothy A. Miller, R. Dobson, A. Al-Chalabi, 2022, bioRxiv.

AAV gene therapy for Tay-Sachs disease

Douglas R Martin, T. Flotte, F. Eichler, 2022, Nature Medicine.

CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro

Tomás C. Rodríguez, L. Petrucelli, J. Kocher, 2022, bioRxiv.

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

I. Nonaka, Y. Hayashi, I. Nishino, 2001, Human molecular genetics.