| Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A LM Mulligan, JBJ Kwok, CS Healey, MJ Elsdon, C Eng, E Gardner, ... Nature 363 (6428), 458-460, 1993 | 2456 | 1993 |
| Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage KR Smith, J Damiano, S Franceschetti, S Carpenter, L Canafoglia, ... The American Journal of Human Genetics 90 (6), 1102-1107, 2012 | 526 | 2012 |
| The neuronal ceroid-lipofuscinoses (Batten disease) SE Mole, A Schulz Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric …, 2025 | 409* | 2025 |
| The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 S Ranta, Y Zhang, B Ross, L Lonka, E Takkunen, A Messer, J Sharp, ... Nature genetics 23 (2), 233-236, 1999 | 368 | 1999 |
| Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses M Kousi, AE Lehesjoki, SE Mole Human mutation 33 (1), 42-63, 2012 | 366 | 2012 |
| Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses SE Mole, RE Williams, HH Goebel Neurogenetics 6, 107-126, 2005 | 355 | 2005 |
| Genetics of the neuronal ceroid lipofuscinoses (Batten disease) SE Mole, SL Cotman Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1852 (10 …, 2015 | 332 | 2015 |
| Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis L Nosková, V Stránecký, H Hartmannová, A Přistoupilová, V Barešová, ... The American Journal of Human Genetics 89 (2), 241-252, 2011 | 323 | 2011 |
| Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis J Bras, A Verloes, SA Schneider, SE Mole, RJ Guerreiro Human molecular genetics 21 (12), 2646-2650, 2012 | 306 | 2012 |
| Spectrum of mutations in the Batten disease gene, CLN3 PB Munroe, HM Mitchison, AM O'Rawe, JW Anderson, RM Boustany, ... The American Journal of Human Genetics 61 (2), 310-316, 1997 | 248 | 1997 |
| New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses RE Williams, SE Mole Neurology 79 (2), 183-191, 2012 | 245 | 2012 |
| Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6 M Poët, U Kornak, M Schweizer, AA Zdebik, O Scheel, S Hoelter, W Wurst, ... Proceedings of the National Academy of Sciences 103 (37), 13854-13859, 2006 | 237 | 2006 |
| The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein RB Wheeler, JD Sharp, RA Schultz, JM Joslin, RE Williams, SE Mole The American Journal of Human Genetics 70 (2), 537-542, 2002 | 224 | 2002 |
| Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6 T Arsov, KR Smith, J Damiano, S Franceschetti, L Canafoglia, ... The American Journal of Human Genetics 88 (5), 566-573, 2011 | 194 | 2011 |
| Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis SE Mole, G Anderson, HA Band, SF Berkovic, JD Cooper, SMK Holthaus, ... The Lancet Neurology 18 (1), 107-116, 2019 | 190 | 2019 |
| Neuronal ceroid lipofuscinoses DA Nita, SE Mole, BA Minassian Epileptic Disorders 18 (s2), S73-S88, 2016 | 172 | 2016 |
| Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits HM Mitchison, SL Hofmann, CHR Becerra, PB Munroe, BD Lake, YJ Crow, ... Human molecular genetics 7 (2), 291-297, 1998 | 168 | 1998 |
| Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis KR Smith, HHM Dahl, L Canafoglia, E Andermann, J Damiano, M Morbin, ... Human molecular genetics 22 (7), 1417-1423, 2013 | 155 | 2013 |
| Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis M Kousi, E Siintola, L Dvorakova, H Vlaskova, J Turnbull, M Topcu, ... Brain 132 (3), 810-819, 2009 | 149 | 2009 |
| CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein SE Mole, G Michaux, S Codlin, RB Wheeler, JD Sharp, DF Cutler Experimental cell research 298 (2), 399-406, 2004 | 144 | 2004 |
Hannah MitchisonUniversity College Londonucl.ac.uk의 이메일 확인됨