Sara Mole
Sara Mole
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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
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
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
The neuronal ceroid lipofuscinoses (Batten disease)
S Mole, R Williams, H Goebel
Oxford University Press, 2011
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
SE Mole, RE Williams, HH Goebel
Neurogenetics 6 (3), 107-126, 2005
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
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis
L NoskovŠ, V StrŠneckż, H HartmannovŠ, A PřistoupilovŠ, V BarešovŠ, ...
The American Journal of Human Genetics 89 (2), 241-252, 2011
Genetics of the neuronal ceroid lipofuscinoses (Batten disease)
SE Mole, SL Cotman
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1852 (10†…, 2015
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
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
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
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6
M PoŽt, U Kornak, M Schweizer, AA Zdebik, O Scheel, S Hoelter, W Wurst, ...
Proceedings of the National Academy of Sciences 103 (37), 13854-13859, 2006
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses
RE Williams, SE Mole
Neurology 79 (2), 183-191, 2012
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
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
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
Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11. 2
E Gardner, L Papi, DF Easton, T Cummings, CE Jackson, M Kaplan, ...
Human molecular genetics 2 (3), 241-246, 1993
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
The genetic spectrum of human neuronal ceroid‐lipofuscinoses
SE Mole
Brain pathology 14 (1), 70-76, 2004
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
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