Следене
Sara Mole
Sara Mole
UCL
Потвърден имейл адрес: ucl.ac.uk
Заглавие
Позовавания
Позовавания
Година
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
24611993
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
5272012
The neuronal ceroid lipofuscinoses (Batten disease)
S Mole, R Williams, H Goebel
OUP Oxford, 2011
512*2011
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
3691999
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
3662012
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
SE Mole, RE Williams, HH Goebel
Neurogenetics 6, 107-126, 2005
3592005
Genetics of the neuronal ceroid lipofuscinoses (Batten disease)
SE Mole, SL Cotman
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1852 (10 …, 2015
3292015
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
3202011
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
3072012
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses
RE Williams, SE Mole
Neurology 79 (2), 183-191, 2012
2472012
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
2461997
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
2442006
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
2262002
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
1922019
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
1922011
Neuronal ceroid lipofuscinoses
DA Nita, SE Mole, BA Minassian
Epileptic Disorders 18 (s2), S73-S88, 2016
1782016
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
1691998
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
1542013
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
1512009
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
1422004
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