title: Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.
authors.forename: Christian
authors.initials: C
authors.lastname: Beetz
authors.forename: Stephan
authors.initials: S
authors.lastname: Zuchner
authors.forename: Allison
authors.initials: A
authors.lastname: Ashley-Koch
authors.forename: Michaela
authors.initials: M
authors.lastname: Auer-Grumbach
authors.forename: Paula
authors.initials: P
authors.lastname: Byrne
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: Michael
authors.initials: M
authors.lastname: Hutchinson
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: McDermott
authors.forename: Inge A
authors.initials: IA
authors.lastname: Meijer
authors.forename: Anders O H
authors.initials: AO
authors.lastname: Nygren
authors.forename: Margaret
authors.initials: M
authors.lastname: Pericak-Vance
authors.forename: Angela
authors.initials: A
authors.lastname: Pyle
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
authors.forename: Jörg
authors.initials: J
authors.lastname: Schickel
authors.forename: Pamela J
authors.initials: PJ
authors.lastname: Shaw
authors.forename: Thomas
authors.initials: T
authors.lastname: Deufel
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D009154:Mutation; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D000074181:Spastin
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human