A novel stop codon mutation in the PMP22 gene associated with a variable phenotype

Stereology of arbitrary particles*

H. J. G. Gundersen · Journal of Microscopy · 1986 · 1.4K citations

Engineering, Visualization, Optics +14

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

James R. Lupski, Roberto Montes‐de‐Oca‐Luna, Susan Slaugenhaupt et al. · Cell · 1991 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +14

THE CLINICAL FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPES I AND II

A E Harding, P. K. Thomas · Brain · 1980 · 829 citations

Medicine, Neurology, Neuroscience +17

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

Laura E. Warner, Pedro Mancías, Ian J. Butler et al. · Nature Genetics · 1998 · 493 citations

Life Sciences, Genetics, Molecular Genetics +13

The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A

Pragna I. Patel, Benjamin B. Roa, R Schoener-Scott et al. · Nature Genetics · 1992 · 493 citations

Medicine, Genetics, Molecular Genetics +10