title: Advances in Charcot-Marie-Tooth disease research: cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms. The European CMT Consortium.
abstract: The First Workshop of the European Consortium on Charcot-Marie-Tooth (CMT) disease brought together neuroscientists, molecular and cell biologists, neuropathologists, neurologists, and geneticists with a common interest in the understanding of the fundamental mechanisms that underlie the pathogenesis of CMT. The interdisciplinary group of 25 expert scientists discussed recent advances in (i) molecular genetics and histopathology of CMT, (ii) development of suitable animal models, (iii) understanding of the cellular function of CMT-related proteins, and (iv) studies using nerve biopsies from CMT patients. In this minireview, we summarize the key findings presented and discuss their impact on CMT research.
authors.affiliation: Department of Neurology, Heinrich-Heine-University, Düsseldorf, Germany. mueller@neurologie.uni-duesseldorf.de
authors.forename: H W
authors.initials: HW
authors.lastname: Müller
authors.forename: U
authors.initials: U
authors.lastname: Suter
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: C O
authors.initials: CO
authors.lastname: Hanemann
authors.forename: E
authors.initials: E
authors.lastname: Nelis
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
authors.forename: S
authors.initials: S
authors.lastname: Sancho
authors.forename: L
authors.initials: L
authors.lastname: Barrio
authors.forename: P
authors.initials: P
authors.lastname: Bolhuis
authors.forename: R
authors.initials: R
authors.lastname: Dermietzel
authors.forename: M
authors.initials: M
authors.lastname: Frank
authors.forename: A
authors.initials: A
authors.lastname: Gabreëls-Festen
authors.forename: C
authors.initials: C
authors.lastname: Gillen
authors.forename: N
authors.initials: N
authors.lastname: Haites
authors.forename: G
authors.initials: G
authors.lastname: Levi
authors.forename: E
authors.initials: E
authors.lastname: Mariman
authors.forename: R
authors.initials: R
authors.lastname: Martini
authors.forename: K
authors.initials: K
authors.lastname: Nave
authors.forename: B
authors.initials: B
authors.lastname: Rautenstrauss
authors.forename: M
authors.initials: M
authors.lastname: Schachner
authors.forename: A
authors.initials: A
authors.lastname: Schenone
authors.forename: C
authors.initials: C
authors.lastname: Schneider
authors.forename: M
authors.initials: M
authors.lastname: Schröder
authors.forename: K
authors.initials: K
authors.lastname: Willecke
authors.forename: O
authors.initials: O
authors.lastname: Haneman
mesh_terms: D000818:Animals; D030801:Animals, Genetically Modified / Q000502:physiology; D002607:Charcot-Marie-Tooth Disease / Q000473:pathology / Q000503:physiopathology*; D004195:Disease Models, Animal; D006801:Humans; D009419:Nerve Tissue Proteins / Q000502:physiology; D009462:Neurology / Q000639:trends*; D012106:Research
chemical_list: D009419:Nerve Tissue Proteins