| Year |
Citation |
Score |
| 2023 |
Ofrim M, Little D, Nazari M, Minnis CJ, Devine MJ, Mole SE, Gissen P, Lorvellec M. Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations. Stem Cell Research. 74: 103291. PMID 38141358 DOI: 10.1016/j.scr.2023.103291 |
0.315 |
|
| 2023 |
Relton EL, Roth NJ, Yasa S, Kaleem A, Hermey G, Minnis CJ, Mole SE, Shelkovnikova T, Lefrancois S, McCormick PJ, Locker N. The Batten disease protein CLN3 is important for stress granules dynamics and translational activity. The Journal of Biological Chemistry. 104649. PMID 36965618 DOI: 10.1016/j.jbc.2023.104649 |
0.369 |
|
| 2022 |
Lopez-Fabuel I, Garcia-Macia M, Buondelmonte C, Burmistrova O, Bonora N, Alonso-Batan P, Morant-Ferrando B, Vicente-Gutierrez C, Jimenez-Blasco D, Quintana-Cabrera R, Fernandez E, Llop J, Ramos-Cabrer P, Sharaireh A, Guevara-Ferrer M, ... ... Mole SE, et al. Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis. Nature Communications. 13: 536. PMID 35087090 DOI: 10.1038/s41467-022-28191-1 |
0.34 |
|
| 2021 |
Gardner E, Mole SE. The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses. Frontiers in Neurology. 12: 754045. PMID 34733232 DOI: 10.3389/fneur.2021.754045 |
0.431 |
|
| 2021 |
Soldati C, Lopez-Fabuel I, Wanderlingh LG, Garcia-Macia M, Monfregola J, Esposito A, Napolitano G, Guevara-Ferrer M, Scotto Rosato A, Krogsaeter EK, Paquet D, Grimm CM, Montefusco S, Braulke T, Storch S, ... Mole SE, et al. Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype. Embo Molecular Medicine. e13742. PMID 34411438 DOI: 10.15252/emmm.202013742 |
0.339 |
|
| 2021 |
Minnis CJ, Townsend S, Petschnigg J, Tinelli E, Bähler J, Russell C, Mole SE. Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease. Scientific Reports. 11: 6332. PMID 33737578 DOI: 10.1038/s41598-021-85471-4 |
0.445 |
|
| 2020 |
Lourenço CM, Pessoa A, Mendes CC, Rivera-Nieto C, Vergara D, Troncoso M, Gardner E, Mallorens F, Tavera L, Lizcano LA, Atanacio N, Guelbert N, Specola N, Mancilla N, de Souza CFM, ... Mole SE, et al. Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world. Journal of Paediatrics and Child Health. PMID 33377563 DOI: 10.1111/jpc.15250 |
0.318 |
|
| 2020 |
Kleine Holthaus SM, Aristorena M, Maswood R, Semenyuk O, Hoke J, Hare A, Smith AJ, Mole SE, Ali RR. Gene therapy targeting the inner retina rescues the retinal phenotype in a mouse model of CLN3 Batten disease. Human Gene Therapy. PMID 32578444 DOI: 10.1089/Hum.2020.038 |
0.449 |
|
| 2020 |
Rahim AA, Russell C, Mole SE. Special edition: The NCLs/Batten disease. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 165824. PMID 32387426 DOI: 10.1016/J.Bbadis.2020.165824 |
0.425 |
|
| 2020 |
Liu W, Kleine-Holthaus SM, Herranz-Martin S, Aristorena M, Mole SE, Smith AJ, Ali RR, Rahim AA. Experimental gene therapies for the NCLs. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 165772. PMID 32220628 DOI: 10.1016/J.Bbadis.2020.165772 |
0.462 |
|
| 2019 |
Kleine Holthaus SM, Herranz-Martin S, Massaro G, Aristorena M, Hoke J, Hughes MP, Maswood R, Semenyuk O, Basche M, Shah AZ, Klaska IP, Smith AJ, Mole SE, Rahim AA, Ali RR. Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease. Human Molecular Genetics. PMID 31807779 DOI: 10.1093/Hmg/Ddz210 |
0.432 |
|
| 2019 |
Butz ES, Chandrachud U, Mole SE, Cotman SL. Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 165571. PMID 31678159 DOI: 10.1016/J.Bbadis.2019.165571 |
0.493 |
|
| 2019 |
Gardner E, Bailey M, Schulz A, Aristorena M, Miller N, Mole SE. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. Human Mutation. PMID 31283065 DOI: 10.1002/Humu.23860 |
0.469 |
|
| 2019 |
Hendriksz CJ, Donohue J, Donohue Y, Mole SE. Methodology to develop guidelines for the management of patients with neuronal ceroid lipofuscinosis type 2 disease Molecular Genetics and Metabolism. 126: S71. DOI: 10.1016/J.Ymgme.2018.12.170 |
0.319 |
|
| 2018 |
Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, ... ... Mole SE, et al. Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. Brain : a Journal of Neurology. PMID 30561534 DOI: 10.1093/Brain/Awy297 |
0.441 |
|
| 2018 |
Mole SE, Anderson G, Band HA, Berkovic SF, Cooper JD, Kleine Holthaus SM, McKay TR, Medina DL, Rahim AA, Schulz A, Smith AJ. Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. The Lancet. Neurology. PMID 30470609 DOI: 10.1016/S1474-4422(18)30368-5 |
0.412 |
|
| 2018 |
Kleine Holthaus SM, Smith AJ, Mole SE, Ali RR. Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses. Advances in Experimental Medicine and Biology. 1074: 91-99. PMID 29721932 DOI: 10.1007/978-3-319-75402-4_12 |
0.351 |
|
| 2018 |
Kleine Holthaus SM, Ribeiro J, Abelleira-Hervas L, Pearson RA, Duran Y, Georgiadis A, Sampson RD, Rizzi M, Hoke J, Maswood R, Azam S, Luhmann UFO, Smith AJ, Mole SE, Ali RR. Prevention of Photoreceptor Cell Loss in a Cln6Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 29606505 DOI: 10.1016/J.Ymthe.2018.02.027 |
0.418 |
|
| 2018 |
Danyukova T, Ariunbat K, Thelen M, Brocke-Ahmadinejad N, Mole SE, Storch S. Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation. Human Molecular Genetics. PMID 29514215 DOI: 10.1093/Hmg/Ddy076 |
0.461 |
|
| 2018 |
Mole SE, Gardner E, Schulz A, Xin WW. Molecular basis of CLN2 disease: A review and classification of TPP1 gene variants reported worldwide Molecular Genetics and Metabolism. 123: S97. DOI: 10.1016/J.Ymgme.2017.12.255 |
0.399 |
|
| 2017 |
Mole SE. The value of a comprehensive natural history in late infantile CLN5 disease. Developmental Medicine and Child Neurology. PMID 28556060 DOI: 10.1111/Dmcn.13472 |
0.378 |
|
| 2017 |
Marotta D, Tinelli E, Mole SE. NCLs and ER: A stressful relationship. Biochimica Et Biophysica Acta. PMID 28390949 DOI: 10.1016/J.Bbadis.2017.04.003 |
0.367 |
|
| 2017 |
Beesley C, Guerreiro RJ, Bras JT, Williams RE, Taratuto AL, Eltze C, Mole SE. CLN8 disease caused by large genomic deletions. Molecular Genetics & Genomic Medicine. 5: 85-91. PMID 28116333 DOI: 10.1002/Mgg3.263 |
0.437 |
|
| 2016 |
Nita DA, Mole SE, Minassian BA. Neuronal ceroid lipofuscinoses. Epileptic Disorders : International Epilepsy Journal With Videotape. PMID 27629553 DOI: 10.1053/Ejpn.1999.0179 |
0.328 |
|
| 2016 |
Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, et al. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. Molecular Genetics and Metabolism. PMID 27553878 DOI: 10.1016/J.Ymgme.2016.07.011 |
0.47 |
|
| 2016 |
Berkovic SF, Staropoli JF, Carpenter S, Oliver KL, Kmoch S, Anderson GW, Damiano JA, Hildebrand MS, Sims KB, Cotman SL, Bahlo M, Smith KR, Cadieux-Dion M, Cossette P, Jedličková I, ... ... Mole SE, et al. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). Neurology. PMID 27412140 DOI: 10.1212/Wnl.0000000000002943 |
0.339 |
|
| 2016 |
Guerreiro RJ, Brown R, Dian D, de Goede C, Bras J, Mole SE. Mutation of TBCK causes a rare recessive developmental disorder. Neurology. Genetics. 2: e76. PMID 27275012 DOI: 10.1212/Nxg.0000000000000076 |
0.376 |
|
| 2016 |
Faller KM, Bras J, Sharpe SJ, Anderson GW, Darwent L, Kun-Rodrigues C, Alroy J, Penderis J, Mole SE, Gutierrez-Quintana R, Guerreiro RJ. The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? Journal of Neuroscience Research. PMID 26762174 DOI: 10.1002/Jnr.23710 |
0.426 |
|
| 2016 |
Giugliani R, Fietz M, Al-Sayed M, Burke D, Cohen-Pfeffer J, Cooper JD, de Halac IN, Dvořáková L, Izzo E, Jahnová H, Lukacs Z, Mole S, Pearce D, Schulz A, Specchio N, et al. Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Diagnostic algorithm and best practice guidelines for a timely diagnosis Molecular Genetics and Metabolism. 117: S61. DOI: 10.1016/J.Ymgme.2015.12.301 |
0.312 |
|
| 2016 |
Heywood WE, Doykov I, Sirka E, Clayton R, Csányi B, Cleary M, Footitt E, Chakrapani A, Abulhoul L, Grunewald S, Mole S, Gissen P, Mills K. Proteomic analysis of urine reveals potential markers for CLN2 Batten disease Molecular Genetics and Metabolism. 117: S57. DOI: 10.1016/J.Ymgme.2015.12.289 |
0.386 |
|
| 2015 |
Bond ME, Brown R, Rallis C, Bähler J, Mole SE. A central role for TOR signalling in a yeast model for juvenile CLN3 disease. Microbial Cell (Graz, Austria). 2: 466-480. PMID 28357272 DOI: 10.15698/Mic2015.12.241 |
0.504 |
|
| 2015 |
Cismondi IA, Kohan R, Adams H, Bond M, Brown R, Cooper JD, de Hidalgo PK, Holthaus SK, Mole SE, Mugnaini J, de Ramirez AM, Pesaola F, Rautenberg G, Platt FM, de Halac IN. Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder. Biochimica Et Biophysica Acta. PMID 26117801 DOI: 10.1016/J.Bbadis.2015.06.018 |
0.316 |
|
| 2015 |
Mole SE, Cotman SL. Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochimica Et Biophysica Acta. PMID 26026925 DOI: 10.1016/J.Bbadis.2015.05.011 |
0.558 |
|
| 2015 |
Cotman SL, Mole SE, Kohan R. Future perspectives: Moving towards NCL treatments. Biochimica Et Biophysica Acta. PMID 25857620 DOI: 10.1016/J.Bbadis.2015.04.001 |
0.338 |
|
| 2014 |
Hersheson J, Burke D, Clayton R, Anderson G, Jacques TS, Mills P, Wood NW, Gissen P, Clayton P, Fearnley J, Mole SE, Houlden H. Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology. Neurology. 83: 1873-5. PMID 25298308 DOI: 10.1212/Wnl.0000000000000981 |
0.332 |
|
| 2014 |
Mole SE. Development of new treatments for Batten disease. The Lancet. Neurology. 13: 749-51. PMID 24997881 DOI: 10.1016/S1474-4422(14)70151-6 |
0.341 |
|
| 2014 |
Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, ... ... Mole SE, et al. Novel CLN3 mutation causing autophagic vacuolar myopathy. Neurology. 82: 2072-6. PMID 24827497 DOI: 10.1212/Wnl.0000000000000490 |
0.41 |
|
| 2013 |
Guerreiro R, Bras JT, Vieira M, Warrier V, Agrawal S, Stewart H, Anderson G, Mole SE. CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 17: 657-60. PMID 23735787 DOI: 10.1016/J.Ejpn.2013.04.011 |
0.493 |
|
| 2013 |
Warrier V, Vieira M, Mole SE. Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. Biochimica Et Biophysica Acta. 1832: 1827-30. PMID 23542453 DOI: 10.1016/J.Bbadis.2013.03.017 |
0.521 |
|
| 2013 |
Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, ... Mole SE, et al. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Human Molecular Genetics. 22: 1417-23. PMID 23297359 DOI: 10.1093/Hmg/Dds558 |
0.489 |
|
| 2012 |
Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, et al. Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. American Journal of Human Genetics. 90: 1102-7. PMID 22608501 DOI: 10.1016/J.Ajhg.2012.04.021 |
0.445 |
|
| 2012 |
Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Human Molecular Genetics. 21: 2646-50. PMID 22388936 DOI: 10.1093/Hmg/Dds089 |
0.525 |
|
| 2012 |
Kousi M, Lehesjoki AE, Mole SE. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Human Mutation. 33: 42-63. PMID 21990111 DOI: 10.1002/Humu.21624 |
0.535 |
|
| 2011 |
Pezzini F, Gismondi F, Tessa A, Tonin P, Carrozzo R, Mole SE, Santorelli FM, Simonati A. Involvement of the mitochondrial compartment in human NCL fibroblasts. Biochemical and Biophysical Research Communications. 416: 159-64. PMID 22100646 DOI: 10.1016/J.Bbrc.2011.11.016 |
0.323 |
|
| 2011 |
Lebrun AH, Moll-Khosrawi P, Pohl S, Makrypidi G, Storch S, Kilian D, Streichert T, Otto B, Mole SE, Ullrich K, Cotman S, Kohlschütter A, Braulke T, Schulz A. Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease. Molecular Medicine (Cambridge, Mass.). 17: 1253-61. PMID 21863212 DOI: 10.2119/Molmed.2010.00241 |
0.509 |
|
| 2011 |
Nosková L, Stránecký V, Hartmannová H, P?istoupilová A, Barešová V, Ivánek R, H?lková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, et al. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. American Journal of Human Genetics. 89: 241-52. PMID 21820099 DOI: 10.1016/j.ajhg.2011.09.003 |
0.505 |
|
| 2011 |
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, ... ... Mole SE, et al. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. American Journal of Human Genetics. 88: 566-73. PMID 21549341 DOI: 10.1016/J.Ajhg.2011.04.004 |
0.499 |
|
| 2011 |
Al-Kowari MK, Hassan S, El-Said MF, Ben-Omran T, Hedin L, Mole SE, Badii R. Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population. Journal of Child Neurology. 26: 625-9. PMID 21447811 DOI: 10.1177/0883073810387298 |
0.419 |
|
| 2011 |
Kohan R, Cismondi IA, Oller-Ramirez AM, Guelbert N, Anzolini TV, Alonso G, Mole SE, de Kremer DR, de Halac NI. Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. Current Pharmaceutical Biotechnology. 12: 867-83. PMID 21235444 DOI: 10.2174/138920111795542633 |
0.446 |
|
| 2011 |
Mole SE, Codlin S, Griffin JL. Reply to Comment on "Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease" Molecular Biosystems. 7: 1349. DOI: 10.1039/C0Mb00300J |
0.727 |
|
| 2010 |
Pears MR, Codlin S, Haines RL, White IJ, Mortishire-Smith RJ, Mole SE, Griffin JL. Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease. Molecular Biosystems. 6: 1093-102. PMID 20485751 DOI: 10.1039/B915670D |
0.772 |
|
| 2010 |
Xin W, Mullen TE, Kiely R, Min J, Feng X, Cao Y, O'Malley L, Shen Y, Chu-Shore C, Mole SE, Goebel HH, Sims K. CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. Neurology. 74: 565-71. PMID 20157158 DOI: 10.1212/Wnl.0B013E3181Cff70D |
0.438 |
|
| 2010 |
Kurze AK, Galliciotti G, Heine C, Mole SE, Quitsch A, Braulke T. Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6. Human Mutation. 31: E1163-74. PMID 20020536 DOI: 10.1002/Humu.21184 |
0.503 |
|
| 2010 |
Lebrun A, Storch S, Pohl S, Streichert T, Mole S, Ullrich K, Kohlschütter A, Braulke T, Schulz A. Identification of potential biomarkers and modifiers of CLN3-disease progression Neuropediatrics. 41. DOI: 10.1055/S-0030-1265516 |
0.389 |
|
| 2009 |
Lebrun AH, Storch S, Rüschendorf F, Schmiedt ML, Kyttälä A, Mole SE, Kitzmüller C, Saar K, Mewasingh LD, Boda V, Kohlschütter A, Ullrich K, Braulke T, Schulz A. Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. Human Mutation. 30: E651-61. PMID 19309691 DOI: 10.1055/S-0029-1215800 |
0.453 |
|
| 2009 |
Codlin S, Mole SE. S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p. Journal of Cell Science. 122: 1163-73. PMID 19299465 DOI: 10.1242/Jcs.038323 |
0.78 |
|
| 2009 |
Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain : a Journal of Neurology. 132: 810-9. PMID 19201763 DOI: 10.1093/Brain/Awn366 |
0.495 |
|
| 2009 |
Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, ... ... Mole SE, et al. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. Human Mutation. 30: E530-40. PMID 19177532 DOI: 10.1002/Humu.20975 |
0.431 |
|
| 2009 |
Aberg L, Lauronen L, Hämäläinen J, Mole SE, Autti T. A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course. Pediatric Neurology. 40: 134-7. PMID 19135632 DOI: 10.1016/J.Pediatrneurol.2008.10.012 |
0.427 |
|
| 2009 |
Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio MR, Biancheri R, Morbin M, Dalla Bernardina B, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, ... ... Mole SE, et al. Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. Biochemical and Biophysical Research Communications. 379: 892-7. PMID 19135028 DOI: 10.1016/J.Bbrc.2008.12.159 |
0.451 |
|
| 2009 |
Haines RL, Codlin S, Mole SE. The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. Disease Models & Mechanisms. 2: 84-92. PMID 19132115 DOI: 10.1242/Dmm.000851 |
0.79 |
|
| 2008 |
Codlin S, Haines RL, Burden JJ, Mole SE. Btn1 affects cytokinesis and cell-wall deposition by independent mechanisms, one of which is linked to dysregulation of vacuole pH. Journal of Cell Science. 121: 2860-70. PMID 18697832 DOI: 10.1242/Jcs.030122 |
0.758 |
|
| 2008 |
Codlin S, Haines RL, Mole SE. btn1 affects endocytosis, polarization of sterol-rich membrane domains and polarized growth in Schizosaccharomyces pombe. Traffic (Copenhagen, Denmark). 9: 936-50. PMID 18346214 DOI: 10.1111/J.1600-0854.2008.00735.X |
0.742 |
|
| 2008 |
Nugent T, Mole SE, Jones DT. The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data. Febs Letters. 582: 1019-24. PMID 18314010 DOI: 10.1016/J.Febslet.2008.02.049 |
0.499 |
|
| 2008 |
Kitzmüller C, Haines RL, Codlin S, Cutler DF, Mole SE. A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. Human Molecular Genetics. 17: 303-12. PMID 17947292 DOI: 10.1093/Hmg/Ddm306 |
0.796 |
|
| 2007 |
Heine C, Quitsch A, Storch S, Martin Y, Lonka L, Lehesjoki AE, Mole SE, Braulke T. Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6. Molecular Membrane Biology. 24: 74-87. PMID 17453415 DOI: 10.1080/09687860600967317 |
0.38 |
|
| 2006 |
Phillips SN, Muzaffar N, Codlin S, Korey CA, Taschner PE, de Voer G, Mole SE, Pearce DA. Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems. Biochimica Et Biophysica Acta. 1762: 906-19. PMID 17049819 DOI: 10.1016/J.Bbadis.2006.08.010 |
0.767 |
|
| 2006 |
Poët M, Kornak U, Schweizer M, Zdebik AA, Scheel O, Hoelter S, Wurst W, Schmitt A, Fuhrmann JC, Planells-Cases R, Mole SE, Hübner CA, Jentsch TJ. Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. Proceedings of the National Academy of Sciences of the United States of America. 103: 13854-9. PMID 16950870 DOI: 10.1073/Pnas.0606137103 |
0.431 |
|
| 2006 |
Siintola E, Lehesjoki AE, Mole SE. Molecular genetics of the NCLs -- status and perspectives. Biochimica Et Biophysica Acta. 1762: 857-64. PMID 16828266 DOI: 10.1016/J.Bbadis.2006.05.006 |
0.494 |
|
| 2006 |
Leman AR, Polochock S, Mole SE, Pearce DA, Rothberg PG. Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2. Journal of Neuroscience Methods. 157: 124-31. PMID 16720047 DOI: 10.1016/J.Jneumeth.2006.04.015 |
0.447 |
|
| 2006 |
Tang CH, Lee JW, Galvez MG, Robillard L, Mole SE, Chapman HA. Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease. Molecular and Cellular Biology. 26: 2309-16. PMID 16508006 DOI: 10.1128/Mcb.26.6.2309-2316.2006 |
0.313 |
|
| 2005 |
Gachet Y, Codlin S, Hyams JS, Mole SE. btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis. Journal of Cell Science. 118: 5525-36. PMID 16291725 DOI: 10.1242/Jcs.02656 |
0.785 |
|
| 2005 |
Mole SE, Williams RE, Goebel HH. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics. 6: 107-26. PMID 15965709 DOI: 10.1007/S10048-005-0218-3 |
0.525 |
|
| 2005 |
Pineda-Trujillo N, Cornejo W, Carrizosa J, Wheeler RB, Múnera S, Valencia A, Agudelo-Arango J, Cogollo A, Anderson G, Bedoya G, Mole SE, Ruíz-Linares A. A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. Neurology. 64: 740-2. PMID 15728307 DOI: 10.1212/01.Wnl.0000151974.44980.F1 |
0.468 |
|
| 2005 |
Porter MY, Turmaine M, Mole SE. Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1. Journal of Neuroscience Research. 79: 836-48. PMID 15672447 DOI: 10.1002/Jnr.20403 |
0.52 |
|
| 2004 |
Mole SE, Michaux G, Codlin S, Wheeler RB, Sharp JD, Cutler DF. CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. Experimental Cell Research. 298: 399-406. PMID 15265688 DOI: 10.1016/J.Yexcr.2004.04.042 |
0.779 |
|
| 2004 |
Ranta S, Topcu M, Tegelberg S, Tan H, Ustübütün A, Saatci I, Dufke A, Enders H, Pohl K, Alembik Y, Mitchell WA, Mole SE, Lehesjoki AE. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Human Mutation. 23: 300-5. PMID 15024724 DOI: 10.1002/Humu.20018 |
0.405 |
|
| 2004 |
Mole SE. The genetic spectrum of human neuronal ceroid-lipofuscinoses. Brain Pathology (Zurich, Switzerland). 14: 70-6. PMID 14997939 DOI: 10.1111/J.1750-3639.2004.Tb00500.X |
0.516 |
|
| 2003 |
Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Human Mutation. 22: 35-42. PMID 12815591 DOI: 10.1002/Humu.10227 |
0.45 |
|
| 2002 |
Mole S. Gene table: Neuronal ceroid lipofuscinoses European Journal of Paediatric Neurology. 6: 129-130. PMID 11995961 DOI: 10.1053/Ejpn.2002.0560 |
0.327 |
|
| 2002 |
Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE. The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. American Journal of Human Genetics. 70: 537-42. PMID 11727201 DOI: 10.1086/338708 |
0.518 |
|
| 2001 |
Mitchison HM, Mole SE. Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease). Current Opinion in Neurology. 14: 795-803. PMID 11723391 DOI: 10.1097/00019052-200112000-00019 |
0.447 |
|
| 2001 |
Leung KY, Greene ND, Munroe PB, Mole SE. Analysis of CLN3-protein interactions using the yeast two-hybrid system. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 5: 89-93. PMID 11589015 DOI: 10.1053/Ejpn.2000.0441 |
0.394 |
|
| 2001 |
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, Järvelä I, Taschner PE. New mutations in the neuronal ceroid lipofuscinosis genes. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 5: 7-10. PMID 11589012 DOI: 10.1053/Ejpn.2000.0427 |
0.434 |
|
| 2001 |
Sharp JD, Wheeler RB, Schultz RA, Joslin JM, Mole SE, Williams RE, Gardiner RM. Analysis of candidate genes in the CLN6 critical region using in silico cloning. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 5: 29-31. PMID 11589002 DOI: 10.1053/Ejpn.2000.0430 |
0.328 |
|
| 2001 |
Mitchell WA, Wheeler RB, Sharp JD, Bate SL, Gardiner RM, Ranta US, Lonka L, Williams RE, Lehesjoki AE, Mole SE. Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 5: 21-7. PMID 11589000 DOI: 10.1053/Ejpn.2000.0429 |
0.462 |
|
| 2001 |
Mitchell WA, Porter M, Kuwabara P, Mole SE. Genomic structure of three CLN3-like genes in Caenorhabditis elegans. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 5: 121-5. PMID 11588982 DOI: 10.1053/Ejpn.2000.0447 |
0.339 |
|
| 2001 |
Gardiner M, Mole S, Mitchison H. The 8th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease) European Journal of Paediatric Neurology. 5: 1. DOI: 10.1053/Ejpn.2000.0425 |
0.377 |
|
| 2000 |
Eksandh LB, Ponjavic VB, Munroe PB, Eiberg HE, Uvebrant PE, Ehinger BE, Mole SE, Andréasson S. Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene. Ophthalmic Genetics. 21: 69-77. PMID 10916181 DOI: 10.1076/1381-6810(200006)2121-8Ft069 |
0.47 |
|
| 1999 |
Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MDF, Hirvasniemi A, De La Chapelle A, et al. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 Nature Genetics. 23: 233-236. PMID 10508524 DOI: 10.1038/13868 |
0.479 |
|
| 1999 |
Mole SE, Mitchison HM, Munroe PB. Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5. Human Mutation. 14: 199-215. PMID 10477428 DOI: 10.1002/(Sici)1098-1004(1999)14:3<199::Aid-Humu3>3.0.Co;2-A |
0.547 |
|
| 1999 |
Mole SE. Batten's disease: eight genes and still counting? Lancet (London, England). 354: 443-5. PMID 10465165 DOI: 10.1016/S0140-6736(99)00173-7 |
0.399 |
|
| 1999 |
Mole S, Gardiner M. Molecular genetics of the neuronal ceroid lipofuscinoses Epilepsia. 40: 29-32. PMID 10446748 DOI: 10.1111/J.1528-1157.1999.Tb00896.X |
0.51 |
|
| 1999 |
Greene ND, Bernard DL, Taschner PE, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM. A murine model for juvenile NCL: gene targeting of mouse Cln3. Molecular Genetics and Metabolism. 66: 309-13. PMID 10191119 DOI: 10.1006/mgme.1999.2828 |
0.328 |
|
| 1999 |
Stephenson JB, Greene ND, Leung KY, Munroe PB, Mole SE, Gardiner RM, Taschner PE, O'Regan M, Naismith K, Crow YJ, Mitchison HM. The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland. Molecular Genetics and Metabolism. 66: 245-7. PMID 10191109 DOI: 10.1006/mgme.1999.2831 |
0.331 |
|
| 1998 |
Mole SE. Batten disease: four genes and still counting. Neurobiology of Disease. 5: 287-303. PMID 10069573 DOI: 10.1006/Nbdi.1998.0209 |
0.514 |
|
| 1998 |
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, et al. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Human Molecular Genetics. 7: 291-7. PMID 9425237 DOI: 10.1093/Hmg/7.2.291 |
0.476 |
|
| 1998 |
Mitchison HM, Hofmann SL, Becerra CHR, Munroe PB, Lake BD, Crow YJ, Stephenson JBP, Williams RE, Hofman IL, Taschner PEM, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, et al. Corrigendum: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (Human Molecular Genetics (1998) 7 (291-297)) Human Molecular Genetics. 7: 765. |
0.342 |
|
| 1997 |
Mole S. Gene table: neuronal ceroid lipofuscinoses (NCL) European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 1: 187. PMID 10728217 DOI: 10.1016/S1090-3798(97)80032-3 |
0.332 |
|
| 1997 |
Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE. Spectrum of mutations in the Batten disease gene, CLN3. American Journal of Human Genetics. 61: 310-6. PMID 9311735 DOI: 10.1086/514846 |
0.499 |
|
| 1997 |
O'Rawe A, Mitchison HM, Williams R, Wheeler R, Andermann E, Andermann F, Hart YM, Martin JJ, Philippart M, Stephenson JB, Gardiner RM, Mole SE. Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Neuropediatrics. 28: 21-2. PMID 9151314 DOI: 10.1055/S-2007-973659 |
0.349 |
|
| 1997 |
Munroe PB, O'Rawe AM, Mitchison HM, Järvelä IE, Santavuori P, Lerner TJ, Taschner PE, Gardiner RM, Mole SE. Strategy for mutation detection in CLN3: characterisation of two Finnish mutations. Neuropediatrics. 28: 15-7. PMID 9151312 DOI: 10.1055/S-2007-973657 |
0.428 |
|
| 1997 |
Mitchison HM, Taschner PE, Kremmidiotis G, Callen DF, Doggett NA, Lerner TJ, Janes RB, Wallace BA, Munroe PB, O'Rawe AM, Gardiner RM, Mole SE. Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein. Neuropediatrics. 28: 12-4. PMID 9151311 DOI: 10.1055/s-2007-973656 |
0.302 |
|
| 1996 |
Järvelä I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvänen AC. Rapid diagnostic test for the major mutation underlying Batten disease. Journal of Medical Genetics. 33: 1041-2. PMID 9004140 DOI: 10.1136/Jmg.33.12.1041 |
0.457 |
|
| 1996 |
Janes RW, Munroe PB, Mitchison HM, Gardiner RM, Mole SE, Wallace BA. A model for Batten disease protein CLN3: functional implications from homology and mutations. Febs Letters. 399: 75-7. PMID 8980123 DOI: 10.1016/S0014-5793(96)01290-2 |
0.506 |
|
| 1996 |
Mole SE. Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses. Journal of Inherited Metabolic Disease. 19: 269-74. PMID 8803767 DOI: 10.1007/BF01799253 |
0.391 |
|
| 1996 |
Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM, Jarvela I. Prenatal diagnosis of Batten's disease. Lancet (London, England). 347: 1014-5. PMID 8606564 DOI: 10.1016/S0140-6736(96)90148-8 |
0.435 |
|
| 1995 |
Taschner PE, de Vos N, Thompson AD, Callen DF, Doggett N, Mole SE, Dooley TP, Barth PG, Breuning MH. Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease). American Journal of Human Genetics. 56: 663-8. PMID 7887420 |
0.311 |
|
| 1995 |
Mitchison HM, O'Rawe AM, Taschner PE, Sandkuijl LA, Santavuori P, de Vos N, Breuning MH, Mole SE, Gardiner RM, Järvelä IE. Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes. American Journal of Human Genetics. 56: 654-62. PMID 7887419 |
0.31 |
|
| 1995 |
Dooley TP, Probst P, Obermoeller RD, Siciliano MJ, Doggett NA, Callen DF, Mitchison HM, Mole SE. Phenol sulfotransferases: candidate genes for Batten disease. American Journal of Medical Genetics. 57: 327-32. PMID 7668357 DOI: 10.1002/Ajmg.1320570245 |
0.445 |
|
| 1995 |
Mitchison HM, O'Rawe AM, Lerner TJ, Taschner PEM, Schlumpf K, D'Arigo K, De Vos N, Gormally E, Phillips HA, Thompson AD, Haines JL, Hart YM, Andermann E, Callen DF, Breuning MH, ... ... Mole SE, et al. Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits American Journal of Medical Genetics. 57: 312-315. PMID 7668353 DOI: 10.1002/Ajmg.1320570241 |
0.379 |
|
| 1994 |
Mitchison HM, Taschner PEM, O'Rawe AM, de Vos N, Phillips HA, Thompson AD, Kozman HM, Haines JL, Schlumpf K, D'Arigo K, Boustany RMN, Callen DF, Breuning MH, Gardiner RM, Mole SE, et al. Genetic Mapping of the Batten Disease Locus (CLN3) to the Interval D16S288-D16S383 by Analysis of Haplotypes and Allelic Association Genomics. 22: 465-468. PMID 7806237 DOI: 10.1006/Geno.1994.1412 |
0.335 |
|
| 1993 |
Kölble K, Lu J, Mole SE, Kaluz S, Reid KB. Assignment of the human pulmonary surfactant protein D gene (SFTP4) to 10q22-q23 close to the surfactant protein A gene cluster. Genomics. 17: 294-8. PMID 8406480 DOI: 10.1006/Geno.1993.1324 |
0.31 |
|
| 1993 |
Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature. 363: 458-60. PMID 8099202 DOI: 10.1038/363458A0 |
0.361 |
|
| 1991 |
Mole SE, Gardiner M. Molecular genetic analysis of neuronal ceroid lipofuscinosis. International Journal of Neurology. 25: 52-9. PMID 11980063 |
0.397 |
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