Concepedia

John R. MacFarlane

JR

3

Publications

566

Citations

3

H-Index

1994

Active since

Affiliations

University of Cambridge(Current)

Addenbrooke's Hospital

John R. MacFarlane is an author at University of Cambridge specializing in neurogenetics, medicine, and natural sciences.

Top concepts

Publications per year

1994–1997

3

Publications

3

X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene

Monique Jouet, André Rosenthal, Giles Armstrong et al. · Nature Genetics · 1994 · 420 citations

, , +8

Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.

Alex Bateman, Monique Jouet, John R. MacFarlane et al. · The EMBO Journal · 1996 · 127 citations · Full text

, , +10

Nine novel L1 CAM mutations in families with X-linked hydrocephalus

John R. MacFarlane, Jian‐Sheng Du, Miriam E. Pepys et al. · Human Mutation · 1997 · 19 citations

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