-
1
-
-
33748966447
-
Aframe shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis
-
Awano T., Katz M.L., O'Brien D.P., Sohar I., Lobel P., Coates J.R., Khan S., Johnson G.C., Giger U., Johnson G.S. Aframe shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol. Genet. Metab. 2006, 89:254-260.
-
(2006)
Mol. Genet. Metab.
, vol.89
, pp. 254-260
-
-
Awano, T.1
Katz, M.L.2
O'Brien, D.P.3
Sohar, I.4
Lobel, P.5
Coates, J.R.6
Khan, S.7
Johnson, G.C.8
Giger, U.9
Johnson, G.S.10
-
2
-
-
33645130942
-
Amutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis
-
Awano T., Katz M.L., O'Brien D.P., Taylor J.F., Evans J., Khan S., Sohar I., Lobel P., Johnson G.S. Amutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol. Genet. Metab. 2006, 87:341-348.
-
(2006)
Mol. Genet. Metab.
, vol.87
, pp. 341-348
-
-
Awano, T.1
Katz, M.L.2
O'Brien, D.P.3
Taylor, J.F.4
Evans, J.5
Khan, S.6
Sohar, I.7
Lobel, P.8
Johnson, G.S.9
-
3
-
-
0014296155
-
The electroretinogram: its components and their origins
-
Brown K.T. The electroretinogram: its components and their origins. Vis. Res. 1968, 8:633-677.
-
(1968)
Vis. Res.
, vol.8
, pp. 633-677
-
-
Brown, K.T.1
-
4
-
-
84884905484
-
Guidelines for clinical electroretinography in the dog: 2012 update
-
Ekesten B., Komaromy A.M., Ofri R., Petersen-Jones S.M., Narfstrom K. Guidelines for clinical electroretinography in the dog: 2012 update. Doc. Ophthalmol. 2013, 127:79-87.
-
(2013)
Doc. Ophthalmol.
, vol.127
, pp. 79-87
-
-
Ekesten, B.1
Komaromy, A.M.2
Ofri, R.3
Petersen-Jones, S.M.4
Narfstrom, K.5
-
5
-
-
79954629520
-
Atruncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
-
Farias F.H., Zeng R., Johnson G.S., Wininger F.A., Taylor J.F., Schnabel R.D., McKay S.D., Sanders D.N., Lohi H., Seppala E.H., Wade C.M., Lindblad-Toh K., O'Brien D.P., Katz M.L. Atruncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. Neurobiol. Dis. 2011, 42:468-474.
-
(2011)
Neurobiol. Dis.
, vol.42
, pp. 468-474
-
-
Farias, F.H.1
Zeng, R.2
Johnson, G.S.3
Wininger, F.A.4
Taylor, J.F.5
Schnabel, R.D.6
McKay, S.D.7
Sanders, D.N.8
Lohi, H.9
Seppala, E.H.10
Wade, C.M.11
Lindblad-Toh, K.12
O'Brien, D.P.13
Katz, M.L.14
-
6
-
-
0033828159
-
Automated standardized pupillometry with optical method for purposes of clinical practice and research
-
Fotiou F., Fountoulakis K.N., Goulas A., Alexopoulos L., Palikaras A. Automated standardized pupillometry with optical method for purposes of clinical practice and research. Clin. Physiol. 2000, 20:336-347.
-
(2000)
Clin. Physiol.
, vol.20
, pp. 336-347
-
-
Fotiou, F.1
Fountoulakis, K.N.2
Goulas, A.3
Alexopoulos, L.4
Palikaras, A.5
-
7
-
-
33745042273
-
Multifocal retinopathy of Great Pyrenees dogs
-
Grahn B.H., Sandmeyer L.S. Multifocal retinopathy of Great Pyrenees dogs. Can. Vet. J. 2006, 47:491-492.
-
(2006)
Can. Vet. J.
, vol.47
, pp. 491-492
-
-
Grahn, B.H.1
Sandmeyer, L.S.2
-
8
-
-
33749617108
-
Multifocal bullous retinopathy of coton de Tulear dogs
-
Grahn B.H., Sandmeyer L.S., Breaux C.B. Multifocal bullous retinopathy of coton de Tulear dogs. Can. Vet. J. 2006, 47:929-930.
-
(2006)
Can. Vet. J.
, vol.47
, pp. 929-930
-
-
Grahn, B.H.1
Sandmeyer, L.S.2
Breaux, C.B.3
-
9
-
-
84905260224
-
ACLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry
-
Guo J., Johnson G.S., Brown H.A., Provencher M.L., da Costa R.C., Mhlanga-Mutangadura T., Taylor J.F., Schnabel R.D., O'Brien D.P., Katz M.L. ACLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry. Mol. Genet. Metab. 2014, 112:302-309.
-
(2014)
Mol. Genet. Metab.
, vol.112
, pp. 302-309
-
-
Guo, J.1
Johnson, G.S.2
Brown, H.A.3
Provencher, M.L.4
da Costa, R.C.5
Mhlanga-Mutangadura, T.6
Taylor, J.F.7
Schnabel, R.D.8
O'Brien, D.P.9
Katz, M.L.10
-
10
-
-
84965088651
-
Arare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid BMC Vet. Res
-
(electronic resource)
-
Guo J., O'Brien D.P., Mhlanga-Mutangadura T., Olby N.J., Taylor J.F., Schnabel R.D., Katz M.L., Johnson G.S. Arare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid BMC Vet. Res. BMC Veterinary Res. 2015, 10:960. (electronic resource).
-
(2015)
BMC Veterinary Res.
, vol.10
, pp. 960
-
-
Guo, J.1
O'Brien, D.P.2
Mhlanga-Mutangadura, T.3
Olby, N.J.4
Taylor, J.F.5
Schnabel, R.D.6
Katz, M.L.7
Johnson, G.S.8
-
11
-
-
80052381733
-
Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies
-
Guziewicz K.E., Slavik J., Lindauer S.J., Aguirre G.D., Zangerl B. Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies. Invest. Ophthalmol. Vis. Sci. 2011, 52:4497-4505.
-
(2011)
Invest. Ophthalmol. Vis. Sci.
, vol.52
, pp. 4497-4505
-
-
Guziewicz, K.E.1
Slavik, J.2
Lindauer, S.J.3
Aguirre, G.D.4
Zangerl, B.5
-
12
-
-
34250223073
-
Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease
-
Guziewicz K.E., Zangerl B., Lindauer S.J., Mullins R.F., Sandmeyer L.S., Grahn B.H., Stone E.M., Acland G.M., Aguirre G.D. Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest. Ophthalmol. Vis. Sci. 2007, 48:1959-1967.
-
(2007)
Invest. Ophthalmol. Vis. Sci.
, vol.48
, pp. 1959-1967
-
-
Guziewicz, K.E.1
Zangerl, B.2
Lindauer, S.J.3
Mullins, R.F.4
Sandmeyer, L.S.5
Grahn, B.H.6
Stone, E.M.7
Acland, G.M.8
Aguirre, G.D.9
-
13
-
-
66349091977
-
Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses
-
Hainsworth D.P., Liu G.T., Hamm C.W., Katz M.L. Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses. Retina 2009, 29:657-668.
-
(2009)
Retina
, vol.29
, pp. 657-668
-
-
Hainsworth, D.P.1
Liu, G.T.2
Hamm, C.W.3
Katz, M.L.4
-
14
-
-
33750986182
-
The neuronal ceroid-lipofuscinoses: from past to present
-
Haltia M. The neuronal ceroid-lipofuscinoses: from past to present. Biochim. Biophys. Acta 2006, 1762:850-856.
-
(2006)
Biochim. Biophys. Acta
, vol.1762
, pp. 850-856
-
-
Haltia, M.1
-
15
-
-
84865802154
-
Canine multifocal retinopathy in the Australian Shepherd: a case report
-
Hoffmann I., Guziewicz K.E., Zangerl B., Aguirre G.D., Mardin C.Y. Canine multifocal retinopathy in the Australian Shepherd: a case report. Vet. Ophthalmol. 2012, 15(Suppl.2):134-138.
-
(2012)
Vet. Ophthalmol.
, vol.15
, Issue.SUPPL.2
, pp. 134-138
-
-
Hoffmann, I.1
Guziewicz, K.E.2
Zangerl, B.3
Aguirre, G.D.4
Mardin, C.Y.5
-
16
-
-
47249145531
-
Retinal pathology in a canine model of late infantile neuronal ceroid lipofuscinosis
-
Katz M.L., Coates J.R., Cooper J.J., O'Brien D.P., Jeong M., Narfstrom K. Retinal pathology in a canine model of late infantile neuronal ceroid lipofuscinosis. Invest. Ophthalmol. Vis. Sci. 2008, 49:2686-2695.
-
(2008)
Invest. Ophthalmol. Vis. Sci.
, vol.49
, pp. 2686-2695
-
-
Katz, M.L.1
Coates, J.R.2
Cooper, J.J.3
O'Brien, D.P.4
Jeong, M.5
Narfstrom, K.6
-
17
-
-
84906326721
-
Enzyme replacement therapy attenuates disease progression in a canine model of late infantile neuronal ceroid lipofuscinosis (CLN2 disease)
-
Katz M.L., Coates J.R., Sibigtroth C.M., Taylor J.D., Carpentier M., Young W.M., Wininger F.A., Kennedy D., Vuillemenot B.R., O'Neill C.A. Enzyme replacement therapy attenuates disease progression in a canine model of late infantile neuronal ceroid lipofuscinosis (CLN2 disease). J.Neurosci. Res. 2014, 92:1591-1598.
-
(2014)
J.Neurosci. Res.
, vol.92
, pp. 1591-1598
-
-
Katz, M.L.1
Coates, J.R.2
Sibigtroth, C.M.3
Taylor, J.D.4
Carpentier, M.5
Young, W.M.6
Wininger, F.A.7
Kennedy, D.8
Vuillemenot, B.R.9
O'Neill, C.A.10
-
18
-
-
79952231932
-
Amissense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis
-
Katz M.L., Farias F.H., Sanders D.N., Zeng R., Khan S., Johnson G.S., O'Brien D.P. Amissense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. J.Biomed. Biotech. 2011, 2011:198042.
-
(2011)
J.Biomed. Biotech.
, vol.2011
, pp. 198042
-
-
Katz, M.L.1
Farias, F.H.2
Sanders, D.N.3
Zeng, R.4
Khan, S.5
Johnson, G.S.6
O'Brien, D.P.7
-
19
-
-
11144341883
-
Amutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis
-
Katz M.L., Khan S., Awano T., Shahid S.A., Siakotos A.N., Johnson G.S. Amutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem. Biophys. Res. Commun. 2005, 327:541-547.
-
(2005)
Biochem. Biophys. Res. Commun.
, vol.327
, pp. 541-547
-
-
Katz, M.L.1
Khan, S.2
Awano, T.3
Shahid, S.A.4
Siakotos, A.N.5
Johnson, G.S.6
-
20
-
-
11144334934
-
Assessment of retinal function and characterization of lysosomal storage body accumulation in the retinas and brains of Tibetan Terriers with ceroid-lipofuscinosis
-
Katz M.L., Narfstrom K., Johnson G.S., O'Brien D.P. Assessment of retinal function and characterization of lysosomal storage body accumulation in the retinas and brains of Tibetan Terriers with ceroid-lipofuscinosis. Am. J. Vet. Res. 2005, 66:67-76.
-
(2005)
Am. J. Vet. Res.
, vol.66
, pp. 67-76
-
-
Katz, M.L.1
Narfstrom, K.2
Johnson, G.S.3
O'Brien, D.P.4
-
21
-
-
84883789732
-
Mutations in IMPG1 cause vitelliform macular dystrophies
-
Manes G., Meunier I., Avila-Fernandez A., Banfi S., Le Meur G., Zanlonghi X., Corton M., Simonelli F., Brabet P., Labesse G., Audo I., Mohand-Said S., Zeitz C., Sahel J.A., Weber M., Dollfus H., Dhaenens C.M., Allorge D., De Baere E., Koenekoop R.K., Kohl S., Cremers F.P., Hollyfield J.G., Senechal A., Hebrard M., Bocquet B., Ayuso Garcia C., Hamel C.P. Mutations in IMPG1 cause vitelliform macular dystrophies. Am. J. Hum. Genet. 2013, 93:571-578.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 571-578
-
-
Manes, G.1
Meunier, I.2
Avila-Fernandez, A.3
Banfi, S.4
Le Meur, G.5
Zanlonghi, X.6
Corton, M.7
Simonelli, F.8
Brabet, P.9
Labesse, G.10
Audo, I.11
Mohand-Said, S.12
Zeitz, C.13
Sahel, J.A.14
Weber, M.15
Dollfus, H.16
Dhaenens, C.M.17
Allorge, D.18
De Baere, E.19
Koenekoop, R.K.20
Kohl, S.21
Cremers, F.P.22
Hollyfield, J.G.23
Senechal, A.24
Hebrard, M.25
Bocquet, B.26
Ayuso Garcia, C.27
Hamel, C.P.28
more..
-
22
-
-
23244466313
-
Amutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs
-
Melville S.A., Wilson C.L., Chiang C.S., Studdert V.P., Lingaas F., Wilton A.N. Amutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics 2005, 86:287-294.
-
(2005)
Genomics
, vol.86
, pp. 287-294
-
-
Melville, S.A.1
Wilson, C.L.2
Chiang, C.S.3
Studdert, V.P.4
Lingaas, F.5
Wilton, A.N.6
-
23
-
-
79957987155
-
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis
-
Meunier I., Senechal A., Dhaenens C.M., Arndt C., Puech B., Defoort-Dhellemmes S., Manes G., Chazalette D., Mazoir E., Bocquet B., Hamel C.P. Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. Ophthalmology 2011, 118:1130-1136.
-
(2011)
Ophthalmology
, vol.118
, pp. 1130-1136
-
-
Meunier, I.1
Senechal, A.2
Dhaenens, C.M.3
Arndt, C.4
Puech, B.5
Defoort-Dhellemmes, S.6
Manes, G.7
Chazalette, D.8
Mazoir, E.9
Bocquet, B.10
Hamel, C.P.11
-
25
-
-
84887407104
-
Photoreceptor cell death and rescue in retinal detachment and degenerations
-
Murakami Y., Notomi S., Hisatomi T., Nakazawa T., Ishibashi T., Miller J.W., Vavvas D.G. Photoreceptor cell death and rescue in retinal detachment and degenerations. Prog. Retin. Eye Res. 2013, 37:114-140.
-
(2013)
Prog. Retin. Eye Res.
, vol.37
, pp. 114-140
-
-
Murakami, Y.1
Notomi, S.2
Hisatomi, T.3
Nakazawa, T.4
Ishibashi, T.5
Miller, J.W.6
Vavvas, D.G.7
-
26
-
-
80054779392
-
Toward a clinical protocol for assessing rod, cone, and melanopsin contributions to the human pupil response
-
Park J.C., Moura A.L., Raza A.S., Rhee D.W., Kardon R.H., Hood D.C. Toward a clinical protocol for assessing rod, cone, and melanopsin contributions to the human pupil response. Invest. Ophthalmol. Vis. Sci. 2011, 52:6624-6635.
-
(2011)
Invest. Ophthalmol. Vis. Sci.
, vol.52
, pp. 6624-6635
-
-
Park, J.C.1
Moura, A.L.2
Raza, A.S.3
Rhee, D.W.4
Kardon, R.H.5
Hood, D.C.6
-
27
-
-
77954660164
-
Amutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund
-
Sanders D.N., Farias F.H., Johnson G.S., Chiang V., Cook J.R., O'Brien D.P., Hofmann S.L., Lu J.Y., Katz M.L. Amutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. Mol. Genet. Metab. 2010, 100:349-356.
-
(2010)
Mol. Genet. Metab.
, vol.100
, pp. 349-356
-
-
Sanders, D.N.1
Farias, F.H.2
Johnson, G.S.3
Chiang, V.4
Cook, J.R.5
O'Brien, D.P.6
Hofmann, S.L.7
Lu, J.Y.8
Katz, M.L.9
-
28
-
-
80053634990
-
Areversal learning task detects cognitive deficits in a Dachshund model of late-infantile neuronal ceroid lipofuscinosis
-
Sanders D.N., Kanazono S., Wininger F.A., Whiting R.E., Flournoy C.A., Coates J.R., Castaner L.J., O'Brien D.P., Katz M.L. Areversal learning task detects cognitive deficits in a Dachshund model of late-infantile neuronal ceroid lipofuscinosis. Genes, Brain, & Behav. 2011, 10:798-804.
-
(2011)
Genes, Brain, & Behav.
, vol.10
, pp. 798-804
-
-
Sanders, D.N.1
Kanazono, S.2
Wininger, F.A.3
Whiting, R.E.4
Flournoy, C.A.5
Coates, J.R.6
Castaner, L.J.7
O'Brien, D.P.8
Katz, M.L.9
-
29
-
-
82455208854
-
Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis
-
Vuillemenot B.R., Katz M.L., Coates J.R., Kennedy D., Tiger P., Kanazono S., Lobel P., Sohar I., Xu S., Cahayag R., Keve S., Koren E., Bunting S., Tsuruda L.S., O'Neill C.A. Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis. Mol. Genet. Metab. 2011, 104:325-337.
-
(2011)
Mol. Genet. Metab.
, vol.104
, pp. 325-337
-
-
Vuillemenot, B.R.1
Katz, M.L.2
Coates, J.R.3
Kennedy, D.4
Tiger, P.5
Kanazono, S.6
Lobel, P.7
Sohar, I.8
Xu, S.9
Cahayag, R.10
Keve, S.11
Koren, E.12
Bunting, S.13
Tsuruda, L.S.14
O'Neill, C.A.15
-
30
-
-
84881555938
-
Genetic basis and phenotypic correlations of the neuronal ceroid lipofuscinoses
-
Warrier V., Vieira M., Mole S.E. Genetic basis and phenotypic correlations of the neuronal ceroid lipofuscinoses. Biochim. Biophys. Acta 2013, 1832:1827-1830.
-
(2013)
Biochim. Biophys. Acta
, vol.1832
, pp. 1827-1830
-
-
Warrier, V.1
Vieira, M.2
Mole, S.E.3
-
31
-
-
0031869908
-
The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses
-
Weleber R.G. The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses. Eye 1998, 12:580-590.
-
(1998)
Eye
, vol.12
, pp. 580-590
-
-
Weleber, R.G.1
-
32
-
-
84887379908
-
Pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis
-
Whiting R.E.H., Narfstrom K., Yao G., Pearce J.W., Coates J.R., Castaner L.J., Katz M.L. Pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. Exp. Eye Res. 2013, 116:402-410.
-
(2013)
Exp. Eye Res.
, vol.116
, pp. 402-410
-
-
Whiting, R.E.H.1
Narfstrom, K.2
Yao, G.3
Pearce, J.W.4
Coates, J.R.5
Castaner, L.J.6
Katz, M.L.7
-
33
-
-
84881527012
-
Quantitative assessment of the canine pupillary light reflex
-
Whiting R.E.H., Yao G., Narfstrom K., Pearce J.W., Coates J.R., Dodam J.R., Castaner L.J., Katz M.L. Quantitative assessment of the canine pupillary light reflex. Invest. Ophthalmol. Vis. Sci. 2013, 54:5432-5440.
-
(2013)
Invest. Ophthalmol. Vis. Sci.
, vol.54
, pp. 5432-5440
-
-
Whiting, R.E.H.1
Yao, G.2
Narfstrom, K.3
Pearce, J.W.4
Coates, J.R.5
Dodam, J.R.6
Castaner, L.J.7
Katz, M.L.8
-
34
-
-
78650770881
-
Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3)
-
Zangerl B., Wickstrom K., Slavik J., Lindauer S.J., Ahonen S., Schelling C., Lohi H., Guziewicz K.E., Aguirre G.D. Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol. Vis. 2010, 16:2791-2804.
-
(2010)
Mol. Vis.
, vol.16
, pp. 2791-2804
-
-
Zangerl, B.1
Wickstrom, K.2
Slavik, J.3
Lindauer, S.J.4
Ahonen, S.5
Schelling, C.6
Lohi, H.7
Guziewicz, K.E.8
Aguirre, G.D.9
|