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| Title : Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes - Hufnagel_2015_J.Med.Genet_52_85 |
| Author(s) : Hufnagel RB , Arno G , Hein ND , Hersheson J , Prasad M , Anderson Y , Krueger LA , Gregory LC , Stoetzel C , Jaworek TJ , Hull S , Li A , Plagnol V , Willen CM , Morgan TM , Prows CA , Hegde RS , Riazuddin S , Grabowski GA , Richardson RJ , Dieterich K , Huang T , Revesz T , Martinez-Barbera JP , Sisk RA , Jefferies C , Houlden H , Dattani MT , Fink JK , Dollfus H , Moore AT , Ahmed ZM |
| Ref : Journal of Medical Genetics , 52 :85 , 2015 |
| Abstract : Hufnagel_2015_J.Med.Genet_52_85 |
| ESTHER : Hufnagel_2015_J.Med.Genet_52_85 |
| PubMedSearch : Hufnagel_2015_J.Med.Genet_52_85 |
| PubMedID: 25480986 |
| Title : Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy - |
| Author(s) : Wedatilake Y , Plagnol V , Anderson G , Paine SM , Clayton PT , Jacques TS , Rahman S |
| Ref : Neuropathol Appl Neurobiol , 41 :399 , 2015 |
| PubMedID: 25345337 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation - Kanabus_2015_J.Inherit.Metab.Dis_38_211 |
| Author(s) : Kanabus M , Shahni R , Saldanha JW , Murphy E , Plagnol V , Hoff WV , Heales S , Rahman S |
| Ref : J Inherit Metab Dis , 38 :211 , 2015 |
| Abstract : Kanabus_2015_J.Inherit.Metab.Dis_38_211 |
| ESTHER : Kanabus_2015_J.Inherit.Metab.Dis_38_211 |
| PubMedSearch : Kanabus_2015_J.Inherit.Metab.Dis_38_211 |
| PubMedID: 25595726 |