Mena Scavina

Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation

Cornelius F. Boerkoel, Hiroshi Takashima, Carlos García et al. · Annals of Neurology · 2001 · 279 citations

Medicine, Genetics, Neurology +17

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Gregory M. Enns, Vandana Shashi, Matthew N. Bainbridge et al. · Genetics in Medicine · 2014 · 240 citations · Full text

Life Sciences, Genetics, Molecular Biology +8

Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34

Phillip F. Chance, Bruce A. Rabin, Stephen G. Ryan et al. · The American Journal of Human Genetics · 1998 · 190 citations · Full text

Life Sciences, Genetics, Neurology +17

Passive exoskeletons for assisting limb movement

Tariq Rahman, Whitney Sample, Shanmuga Jayakumar et al. · The Journal of Rehabilitation Research and Development · 2006 · 155 citations

Medicine, Physical Medicine, Rehabilitation Medicine +17

Autosomal dominant juvenile amyotrophic lateral sclerosis

Bruce A. Rabin, John W. Griffin, Barbara J. Crain et al. · Brain · 1999 · 123 citations · Full text

Medicine, Neurology, Neuroscience +17