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Sara Mole
Sara Mole
UCL
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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
23511993
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
4462012
The neuronal ceroid lipofuscinoses (Batten disease)
S Mole, R Williams, H Goebel
Oxford University Press, 2011
3532011
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
3501999
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
SE Mole, RE Williams, HH Goebel
Neurogenetics 6, 107-126, 2005
3282005
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
3222012
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
2812011
Genetics of the neuronal ceroid lipofuscinoses (Batten disease)
SE Mole, SL Cotman
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1852 (10 …, 2015
2782015
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
2632012
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
2281997
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
2102002
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses
RE Williams, SE Mole
Neurology 79 (2), 183-191, 2012
2052012
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
2042006
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
1722011
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
1631998
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
1382013
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
1352019
Neuronal ceroid lipofuscinoses
DA Nita, SE Mole, BA Minassian
Epileptic Disorders 18 (s2), S73-S88, 2016
1342016
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
1322009
Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11. 2
SE Mole, LM Mulligan, CS Healey, BAJ Ponder, A Tunnacliffe
Human molecular genetics 2 (3), 247-252, 1993
1321993
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