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| Title : Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses - Warrier_2013_Biochim.Biophys.Acta_1832_1827 |
| Author(s) : Warrier V , Vieira M , Mole SE |
| Ref : Biochimica & Biophysica Acta , 1832 :1827 , 2013 |
| Abstract : Warrier_2013_Biochim.Biophys.Acta_1832_1827 |
| ESTHER : Warrier_2013_Biochim.Biophys.Acta_1832_1827 |
| PubMedSearch : Warrier_2013_Biochim.Biophys.Acta_1832_1827 |
| PubMedID: 23542453 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses - Kousi_2012_Hum.Mutat_33_42 |
| Author(s) : Kousi M , Lehesjoki AE , Mole SE |
| Ref : Hum Mutat , 33 :42 , 2012 |
| Abstract : Kousi_2012_Hum.Mutat_33_42 |
| ESTHER : Kousi_2012_Hum.Mutat_33_42 |
| PubMedSearch : Kousi_2012_Hum.Mutat_33_42 |
| PubMedID: 21990111 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Involvement of the mitochondrial compartment in human NCL fibroblasts - Pezzini_2011_Biochem.Biophys.Res.Commun_416_159 |
| Author(s) : Pezzini F , Gismondi F , Tessa A , Tonin P , Carrozzo R , Mole SE , Santorelli FM , Simonati A |
| Ref : Biochemical & Biophysical Research Communications , 416 :159 , 2011 |
| Abstract : Pezzini_2011_Biochem.Biophys.Res.Commun_416_159 |
| ESTHER : Pezzini_2011_Biochem.Biophys.Res.Commun_416_159 |
| PubMedSearch : Pezzini_2011_Biochem.Biophys.Res.Commun_416_159 |
| PubMedID: 22100646 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses - Kohan_2011_Curr.Pharm.Biotechnol_12_867 |
| Author(s) : Kohan R , Cismondi IA , Oller-Ramirez AM , Guelbert N , Anzolini TV , Alonso G , Mole SE , de Kremer DR , de Halac NI |
| Ref : Curr Pharm Biotechnol , 12 :867 , 2011 |
| Abstract : Kohan_2011_Curr.Pharm.Biotechnol_12_867 |
| ESTHER : Kohan_2011_Curr.Pharm.Biotechnol_12_867 |
| PubMedSearch : Kohan_2011_Curr.Pharm.Biotechnol_12_867 |
| PubMedID: 21235444 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1 - |
| Author(s) : Ramadan H , Al-Din AS , Ismail A , Balen F , Varma A , Twomey A , Watts R , Jackson M , Anderson G , Green E , Mole SE |
| Ref : Neurology , 68 :387 , 2007 |
| PubMedID: 17261688 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems - Phillips_2006_Biochim.Biophys.Acta_1762_906 |
| Author(s) : Phillips SN , Muzaffar N , Codlin S , Korey CA , Taschner PE , de Voer G , Mole SE , Pearce DA |
| Ref : Biochimica & Biophysica Acta , 1762 :906 , 2006 |
| Abstract : Phillips_2006_Biochim.Biophys.Acta_1762_906 |
| ESTHER : Phillips_2006_Biochim.Biophys.Acta_1762_906 |
| PubMedSearch : Phillips_2006_Biochim.Biophys.Acta_1762_906 |
| PubMedID: 17049819 |
| Gene_locus related to this paper: caeel-F44C4.5 , drome-CG12108 |
| Title : Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses - Mole_2005_Neurogenetics_6_107 |
| Author(s) : Mole SE , Williams RE , Goebel HH |
| Ref : Neurogenetics , 6 :107 , 2005 |
| Abstract : Mole_2005_Neurogenetics_6_107 |
| ESTHER : Mole_2005_Neurogenetics_6_107 |
| PubMedSearch : Mole_2005_Neurogenetics_6_107 |
| PubMedID: 15965709 |
| Title : Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1 - Porter_2005_J.Neurosci.Res_79_836 |
| Author(s) : Porter MY , Turmaine M , Mole SE |
| Ref : Journal of Neuroscience Research , 79 :836 , 2005 |
| Abstract : Porter_2005_J.Neurosci.Res_79_836 |
| ESTHER : Porter_2005_J.Neurosci.Res_79_836 |
| PubMedSearch : Porter_2005_J.Neurosci.Res_79_836 |
| PubMedID: 15672447 |
| Gene_locus related to this paper: caeel-F44C4.5 |
| Title : New mutations in the neuronal ceroid lipofuscinosis genes - Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| Author(s) : Mole SE , Zhong NA , Sarpong A , Logan WP , Hofmann S , Yi W , Franken PF , van Diggelen OP , Breuning MH , Moroziewicz D , Ju W , Salonen T , Holmberg V , Jarvela I , Taschner PE |
| Ref : Eur J Paediatr Neurol , 5 Suppl A :7 , 2001 |
| Abstract : Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| ESTHER : Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| PubMedSearch : Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| PubMedID: 11589012 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Batten's disease: eight genes and still counting? - |
| Author(s) : Mole SE |
| Ref : Lancet , 354 :443 , 1999 |
| PubMedID: 10465165 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5 - Mole_1999_Hum.Mutat_14_199 |
| Author(s) : Mole SE , Mitchison HM , Munroe PB |
| Ref : Hum Mutat , 14 :199 , 1999 |
| Abstract : Mole_1999_Hum.Mutat_14_199 |
| ESTHER : Mole_1999_Hum.Mutat_14_199 |
| PubMedSearch : Mole_1999_Hum.Mutat_14_199 |
| PubMedID: 10477428 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland - |
| Author(s) : Munroe PB , Greene ND , Leung KY , Mole SE , Gardiner RM , Mitchison HM , Stephenson JB , Crow YJ |
| Ref : Journal of Medical Genetics , 35 :790 , 1998 |
| PubMedID: 9733046 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Mutations in the palmitoyl-protein thioesterase gene (PPT\; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits - Mitchison_1998_Hum.Mol.Genet_7_291 |
| Author(s) : Mitchison HM , Hofmann SL , Becerra CH , Munroe PB , Lake BD , Crow YJ , Stephenson JB , Williams RE , Hofman IL , Taschner PE , Martin JJ , Philippart M , Andermann E , Andermann F , Mole SE , Gardiner RM , O'Rawe AM |
| Ref : Hum Mol Genet , 7 :291 , 1998 |
| Abstract : Mitchison_1998_Hum.Mol.Genet_7_291 |
| ESTHER : Mitchison_1998_Hum.Mol.Genet_7_291 |
| PubMedSearch : Mitchison_1998_Hum.Mol.Genet_7_291 |
| PubMedID: 9425237 |
| Gene_locus related to this paper: human-PPT1 |