Found: 24
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Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6.
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- Genes, 2024, v. 15, n. 6, p. 661, doi. 10.3390/genes15060661
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- Article
Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions.
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- Genes, 2024, v. 15, n. 2, p. 246, doi. 10.3390/genes15020246
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- Article
A Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency.
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- Genes, 2023, v. 14, n. 9, p. 1746, doi. 10.3390/genes14091746
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- Article
Characterization of neurological disease progression in a canine model of CLN5 neuronal ceroid lipofuscinosis.
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- Developmental Neurobiology (19328451), 2022, v. 82, n. 4, p. 326, doi. 10.1002/dneu.22878
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- Article
Dose selection for intracerebroventricular cerliponase alfa in children with CLN2 disease, translation from animal to human in a rare genetic disease.
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- CTS: Clinical & Translational Science, 2021, v. 14, n. 5, p. 1810, doi. 10.1111/cts.13028
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- Article
Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant that Creates a Premature Stop Codon in CLN6.
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- G3: Genes | Genomes | Genetics, 2020, v. 10, n. 8, p. 1, doi. 10.1534/g3.120.401407
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- Article
Neurofilament light is a treatment‐responsive biomarker in CLN2 disease.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 12, p. 2437, doi. 10.1002/acn3.50942
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- Article
Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration.
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- G3: Genes | Genomes | Genetics, 2019, v. 9, n. 2, p. 425, doi. 10.1534/g3.118.200859
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- Article
AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease.
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- Science Translational Medicine, 2015, v. 7, n. 313, p. 1, doi. 10.1126/scitranslmed.aac6191
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- Article
A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.
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- BMC Veterinary Research, 2014, v. 10, n. 1, p. 1, doi. 10.1186/s12917-014-0181-z
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- Article
Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis ( CLN2 disease).
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- Journal of Neuroscience Research, 2014, v. 92, n. 11, p. 1591, doi. 10.1002/jnr.23423
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- Article
Characterization of thoracic motor and sensory neurons and spinal nerve roots in canine degenerative myelopathy, a potential disease model of amyotrophic lateral sclerosis.
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- Journal of Neuroscience Research, 2014, v. 92, n. 4, p. 531, doi. 10.1002/jnr.23332
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- Article
Characterization of intercostal muscle pathology in canine degenerative myelopathy: A disease model for amyotrophic lateral sclerosis.
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- Journal of Neuroscience Research, 2013, v. 91, n. 12, p. 1639, doi. 10.1002/jnr.23287
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- Article
A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis.
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- Journal of Biomedicine & Biotechnology, 2011, p. 1, doi. 10.1155/2011/198042
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- Article
Where have all the antibiotic patents gone?
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- Nature Biotechnology, 2006, v. 24, n. 12, p. 1529, doi. 10.1038/nbt1206-1529
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- Article
434. Long-Term Effects on Retinal Function and Structure Using AAV-Mediated Gene Therapy in Blind RPE65 Null Mutation Dogs
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- 2005
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- Abstract
Stem Cells for Retinal Degenerative Disorders.
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- Annals of the New York Academy of Sciences, 2005, v. 1049, n. 1, p. 135, doi. 10.1196/annals.1334.013
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- Article
A Variant Form of Neuronal Ceroid Lipofuscinosis in American Bulldogs.
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- Journal of Veterinary Internal Medicine, 2005, v. 19, n. 1, p. 44, doi. 10.1111/j.1939-1676.2005.tb02657.x
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- Article
A mouse gene knockout model for juvenile ceroid-lipofuscinosis (batten disease).
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- Journal of Neuroscience Research, 1999, v. 57, n. 4, p. 551, doi. 10.1002/(SICI)1097-4547(19990815)57:4<551::AID-JNR15>3.0.CO;2-R
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- Article
Long-term variations in cyclic light intensity and dietary vitamin A intake modulate lipofuscin content of the retinal pigment epithelium.
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- Journal of Neuroscience Research, 1999, v. 57, n. 1, p. 106, doi. 10.1002/(SICI)1097-4547(19990701)57:1<106::AID-JNR11>3.0.CO;2-Z
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- Article
Coding sequence and exon/intron organization of the canine CLN3 (batten disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in english setter dogs.
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- Journal of Neuroscience Research, 1998, v. 52, n. 3, p. 268, doi. 10.1002/(SICI)1097-4547(19980501)52:3<268::AID-JNR3>3.0.CO;2-B
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- Article
Dietary carnitine supplements slow disease progression in a putative mouse model for hereditary ceroid-lipofuscinosis.
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- Journal of Neuroscience Research, 1997, v. 50, n. 1, p. 123, doi. 10.1002/(SICI)1097-4547(19971001)50:1<123::AID-JNR13>3.0.CO;2-C
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- Article
STRUCTURAL AND BIOCHEMICAL EFFECTS OF ANTIOXIDANT NUTRIENT DEFICIENCY ON THE RAT RETINA AND RETINAL PIGMENT EPITHELIUM.
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- Annals of the New York Academy of Sciences, 1982, v. 393, n. 1, p. 196, doi. 10.1111/j.1749-6632.1982.tb31251.x
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- Article
EFFECTS OF DIETARY VITAMIN E AND SELENIUM ON LIGHT DAMAGE TO THE RAT RETINA*,†.
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- Photochemistry & Photobiology, 1979, v. 29, n. 4, p. 725, doi. 10.1111/j.1751-1097.1979.tb07757.x
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- Article