Related references
Note: Only part of the references are listed.Update on Charcot-Marie-Tooth Disease
Agnes Patzko et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2011)
SIMULTANEOUS MFN2 AND GDAP1 MUTATIONS CAUSE MAJOR MITOCHONDRIAL DEFECTS IN A PATIENT WITH CMT
J. Cassereau et al.
NEUROLOGY (2011)
Genetic and clinical aspects of Charcot-Marie-Tooth's disease
H. Skre
CLINICAL GENETICS (2010)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
A novel Frabin (FGD4) nonsense mutation p. R275X associated with phenotypic variability in CMT4H
Henry Houlden et al.
NEUROLOGY (2009)
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H
G. M. Fabrizi et al.
NEUROLOGY (2009)
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
Claudia Stendel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H
Valerie Delague et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11
A De Sandre-Giovannoli et al.
JOURNAL OF MEDICAL GENETICS (2005)
Rho GTPases in cell biology
S Etienne-Manneville et al.
NATURE (2002)
Cellular functions of phosphatidylinositol 3-phosphate and FYVE domain proteins
DJ Gillooly et al.
BIOCHEMICAL JOURNAL (2001)
Prediction of deleterious human alleles
S Sunyaev et al.
HUMAN MOLECULAR GENETICS (2001)
Two actions of frabin: direct activation of Cdc42 and indirect activation of Rac
Y Ono et al.
ONCOGENE (2000)