Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

[1]  R. Bronson,et al.  VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P2 in yeast and mouse , 2008, The EMBO journal.

[2]  M. Meisler,et al.  Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. , 2008, Brain : a journal of neurology.

[3]  A. Durr,et al.  Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. , 2008, American journal of human genetics.

[4]  S. Morrison,et al.  Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice , 2007, Proceedings of the National Academy of Sciences.

[5]  B. Traynor,et al.  Genetics of sporadic amyotrophic lateral sclerosis. , 2007, Human molecular genetics.

[6]  J. Lupski,et al.  Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J , 2007, Nature.

[7]  E. Chouery,et al.  G.O.3 Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H , 2007, Neuromuscular Disorders.

[8]  U. Suter,et al.  Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. , 2007, American journal of human genetics.

[9]  P. Camilli,et al.  Phosphoinositides' link to neurodegeneration , 2007, Nature Medicine.

[10]  Adrian R. Krainer,et al.  Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization , 2007, Nucleic acids research.

[11]  Jeremy G. Carlton,et al.  The mammalian phosphatidylinositol 3-phosphate 5-kinase (PIKfyve) regulates endosome-to-TGN retrograde transport , 2006, Journal of Cell Science.

[12]  Robert H. Brown,et al.  Molecular biology of amyotrophic lateral sclerosis: insights from genetics , 2006, Nature Reviews Neuroscience.

[13]  I. Vořechovský,et al.  Aberrant 3′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization , 2006, Nucleic acids research.

[14]  J. Fink,et al.  De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. , 2006, Archives of neurology.

[15]  L. Weisman,et al.  The Vac14p–Fig4p complex acts independently of Vac7p and couples PI3,5P2 synthesis and turnover , 2006, The Journal of cell biology.

[16]  K. Zerres,et al.  Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. , 2003, Human molecular genetics.

[17]  P. Parker,et al.  Sac phosphatase domain proteins. , 2000, The Biochemical journal.

[18]  Aldo Quattrone,et al.  Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 , 2000, Nature Genetics.

[19]  Stéphanie Baulac,et al.  Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 , 2000, Nature Genetics.