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| The neuronal ceroid lipofuscinoses (Batten disease) S Mole, R Williams, H Goebel Oxford University Press, 2011 | 403* | 2011 |
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| 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 | 318 | 2011 |
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| 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 | 223 | 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 | 190 | 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 | 172 | 2019 |
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| 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 | 167 | 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 | 149 | 2013 |
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| 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 | 142 | 2004 |
Hannah MitchisonUniversity College London在 ucl.ac.uk 的电子邮件经过验证
