A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family

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

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

G.M. Lathrop, J.-M. Lalouel, Cécile Julier et al. · PubMed · 1985 · 1.2K citations

Life Sciences, Genetics, Molecular Genetics +11

Charcot-Marie-Tooth Disease Type 2A Caused by Mutation in a Microtubule Motor KIF1Bβ

Chunjie Zhao, Junko Takita, Yosuke Tanaka et al. · Cell · 2001 · 760 citations · Full text

Life Sciences, Genetics, Neurology +14

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

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

Linda J. Valentijn, Frank Baas, Ruud A. Wolterman et al. · Nature Genetics · 1992 · 423 citations

Life Sciences, Genetics, Molecular Genetics +11