The detail information of Neuronal ceroid lipofuscinosis
Basic Information

Abbreviated Name: NCL

Disease Description: A congenital disease where fatty pigments are deposited in the brain and cause brain dysfunction.

Inherit Mode: -

Disease Symptom: Affected dogs are typically less than 1 year old; however, they may not show clinical signs until they mature. The majority of dogs begin to exhibit clinical signs between 12 and 18 months of age. The disease progresses over 2-3 years and is manifested by uncoordinated gait, difficulty in swallowing, vision and hearing loss, rapid motion of the eyeball (nystagmus), increased nervousness, decreased interactions with other dogs in the household, a severe loss in the ability to recognize or respond to commands or his name, a loss in the ability to recognize the primary owner or other people in the household, an increased sensitivity to loud noises, circling behavior, increasing inappropriate vocalization, loss of ability to climb stairs or other obstacles, tremors, loss of coordination, severe loss of vision, persistent head movements, and bumping into obstacles. Enlargement of the nerves of the forelimbs can be detected. At a later stage, seizures and tremors develop.

Disease Cause: -

Disease Diagnose: Diagnosis of ceroid lipofuscinosis is based upon clinical signs, especially in a susceptible breed. Cerebrospinal fluid analysis is usually normal but may reveal increased protein levels with a normal cell count. Computed tomographic (CAT) or magnetic resonance imaging (MRI) of the brain may reveal brain atrophy and abnormal brain-tissue density.

Treat Method: Despite the poor outlook for this disorder, bone marrow transplantation and lysosomal enzyme replacement therapy have been successful in some human and animal cases. Gene transfer therapy is also being actively investigated and will hopefully be available in the future.

Breeder Advice: -

Disease Description Source: Link

Associated Diseases
Disease Name Other Name Mode of inheritance Link ID Possible OMIM ID Gene
Neuronal Ceroid Lipofuscinosis, generic Neuronal ceroid lipofuscinosis Autosomal Recessive -
Neuronal ceroid lipofuscinosis, 6 - Autosomal Recessive CLN6
Neuronal ceroid lipofuscinosis, 2 - Autosomal Recessive TPP1
Neuronal ceroid lipofuscinosis, 5 - Autosomal Recessive CLN5
Lysosomal storage disease, ARSG related Cerebellar cortical abiotrophy, cerebellar cortical degeneration, neuronal ceroid lipofuscinosis Autosomal Recessive ARSG
Neuronal ceroid lipofuscinosis, 1 - Autosomal Recessive PPT1
Neuronal ceroid lipofuscinosis, 10 - Autosomal Recessive CTSD
Neuronal ceroid lipofuscinosis, 8 - Autosomal Recessive CLN8
Neuronal ceroid lipofuscinosis, 12 - Autosomal Recessive ATP13A2
Neuronal ceroid lipofuscinosis, 7 - Autosomal Recessive MFSD8
Associated Breeds
iDog Breed Number Breed Name Personality Height Weight Breed Source
CB15 Australian Cattle Dog Alert, curious, and pleasant 45.7-50.8 cm (male), 43.2-48.3 cm (female) 15.9-22.7 kg Australia
CB44 Border Terrier Plucky, happy, affectionate 30.5-38.1 cm 5.9-7 kg (male), 5.2-6.4 kg (female) United Kingdom (Scotland, England)
CB72 Chinese Crested Lively, alert, and affectionate 27.9-33 cm 3.6-5.4 kg Africa, Mexico
CB95 English Foxhound Affectionate, Gentle, Sociable 61 cm 27.2-34 kg United Kingdom (England)
CB97 English Springer Spaniel Friendly, playful, obedient at home; hardworking and steady in the field 50.8 cm (male), 48.3 cm (female) 22.7 kg (male), 18.1 kg (female) United Kingdom (England)
CB112 German Spitz Devoted, Lively, Attentive 12-15 inches 24-26 pounds Germany
CB210 Samoyed Gentle, adaptable, eager, friendly; conservative but never shy 53.3-59.7 cm (male), 48.3-53.3 cm (female) 20.4-29.5 kg (male), 15.9-22.7 kg (female) Russia
CB245 Tornjak(Bosnian and Herzegovinian–Croatian Shepherd Dog) Calm, peaceful Bosnia and Herzegovina, Croatia
References
2021 Basak,I.,Wicky,H.E.,McDonald,K.O.,Xu,J.B.,Palmer,J.E.,Best,H.L.,Lefrancois,S.,Lee,S.Y.,Schoderboeck,L.,Hughes,S.M.: :
A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis. Cell Mol Life Sci :, 2021.
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2021 Soh,P.X.Y.,Hsu,W.T.,Khatkar,M.S.,Williamson,P.: :
Evaluation of genetic diversity and management of disease in Border Collie dogs. Sci Rep 11:6243, 2021.
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2020 Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020.
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2020 Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020.
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2020 Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020.
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2020 Whiting,R.E.H.,Pearce,J.W.,Vansteenkiste,D.P.,Bibi,K.,Lim,S.,Robinson,G.O.,Castaner,L.J.,Sinclair,J.,Chandra,S.,Nguyen,A.,O'Neill,C.A.,Katz,M.L.: :
Intravitreal enzyme replacement preserves retinal structure and function in canine CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res :108130, 2020.
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2020 Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020.
Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 .
2020 Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020.
Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 .
2020 Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020.
Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 .
2020 Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020.
Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 .
2020 Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020.
Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 .
2020 Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020.
Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 .
2020 Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020.
Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 .
2019 Villani,N.A.,Bullock,G.,Michaels,J.R.,Yamato,O.,O'Brien,D.P.,Mhlanga-Mutangadura,T.,Johnson,G.S.,Katz,M.L.: :
A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs. Mol Genet Metab 127:107-115, 2019.
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2019 Guo,J.,Johnson,G.S.,Cook,J.,Harris,O.K.,Mhlanga-Mutangadura,T.,Schnabel,R.D.,Jensen,C.A.,Katz,M.L.: :
Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported <i>CLN8</i> nonsense variant. Mol Genet Metab Rep 21:100521, 2019.
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2019 Schmutz,I.,Jagannathan,V.,Bartenschlager,F.,Stein,V.M.,Gruber,A.D.,Leeb,T.,Katz,M.L.: :
ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. Mol Genet Metab 127:95-106, 2019.
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2018 Lingaas,F.,Guttersrud,O.A.,Arnet,E.,Espenes,A.: :
Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8. Anim Genet 49:52-58, 2018.
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2017 Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017.
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2017 Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017.
Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 .
2017 Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017.
Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 .
2017 Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017.
Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 .
2017 Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017.
Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 .
2017 Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017.
Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 .
2017 Kolicheski,A.,BarnesHeller,H.L.,Arnold,S.,Schnabel,R.D.,Taylor,J.F.,Knox,C.A.,Mhlanga-Mutangadura,T.,O'Brien,D.P.,Johnson,G.S.,Dreyfus,J.,Katz,M.L.: :
Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis. J Vet Intern Med 31:149-157, 2017.
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2017 Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017.
Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 .
2017 Hirz,M.,Drögemüller,M.,Schänzer,A.,Jagannathan,V.,Dietschi,E.,Goebel,H.H.,Hecht,W.,Laubner,S.,Schmidt,M.J.,Steffen,F.,Hilbe,M.,Köhler,K.,Drögemüller,C.,Herden,C.: :
Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog. Mol Genet Metab 120:269-277, 2017.
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2017 Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017.
Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 .
2017 Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017.
Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 .
2017 Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017.
Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 .
2016 Kohlschütter,A.,Schulz,A.: :
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis). Pediatr Endocrinol Rev 13 Suppl 1:682-8, 2016.
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2016 Phillips,J.E.,Gomer,R.H.: :
A canine model for neuronal ceroid lipofuscinosis highlights the promise of gene therapy for lysosomal storage diseases. Ann Transl Med 4:S20, 2016.
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2016 Tracy,C.J.,Whiting,R.E.,Pearce,J.W.,Williamson,B.G.,Vansteenkiste,D.P.,Gillespie,L.E.,Castaner,L.J.,Bryan,J.N.,Coates,J.R.,Jensen,C.A.,Katz,M.L.: :
Intravitreal implantation of TPP1-transduced stem cells delays retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res 152:77-87, 2016.
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2016 Whiting,R.E.,Jensen,C.A.,Pearce,J.W.,Gillespie,L.E.,Bristow,D.E.,Katz,M.L.: :
Intracerebroventricular gene therapy that delays neurological disease progression is associated with selective preservation of retinal ganglion cells in a canine model of CLN2 disease. Exp Eye Res 146:276-82, 2016.
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2016 Kolicheski,A.,Johnson,G.S.,O'Brien,D.P.,Mhlanga-Mutangadura,T.,Gilliam,D.,Guo,J.,Anderson-Sieg,T.D.,Schnabel,R.D.,Taylor,J.F.,Lebowitz,A.,Swanson,B.,Hicks,D.,Niman,Z.E.,Wininger,F.A.,Carpentier,M.C.,Katz,M.L.: :
Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies. J Vet Intern Med :, 2016.
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2016 Mizukami,K.,Yabuki,A.,Kohyama,M.,Kushida,K.,Rahman,M.M.,Uddin,M.M.,Sawa,M.,Yamato,O.: :
Molecular prevalence of multiple genetic disorders in Border collies in Japan and recommendations for genetic counselling. Vet J 214:21-3, 2016.
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2016 Nolte,A.,Bello,A.,Drögemüller,M.,Leeb,T.,Brockhaus,E.,Baumgärtner,W.,Wohlsein,P.: :
Neuronal ceroid lipofuscinosis in an adult American Staffordshire Terrier. Tierarztl Prax Ausg K Kleintiere Heimtiere 44:, 2016.
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2016 Ashwini,A.,D'Angelo,A.,Yamato,O.,Giordano,C.,Cagnotti,G.,Harcourt-Brown,T.,Mhlanga-Mutangadura,T.,Guo,J.,Johnson,G.S.,Katz,M.L.: :
Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. Mol Genet Metab 118:326-32, 2016.
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2016 Faller,K.M.,Bras,J.,Sharpe,S.J.,Anderson,G.W.,Darwent,L.,Kun-Rodrigues,C.,Alroy,J.,Penderis,J.,Mole,S.E.,Gutierrez-Quintana,R.,Guerreiro,R.J.: :
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? J Neurosci Res 94:339-47, 2016.
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2016 Karli,P.,Oevermann,A.,Bauer,A.,Jagannathan,V.,Leeb,T.: :
MFSD8 single-base pair deletion in a Chihuahua with neuronal ceroid lipofuscinosis. Anim Genet :, 2016.
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2015 Katz,M.L.,Tecedor,L.,Chen,Y.,Williamson,B.G.,Lysenko,E.,Wininger,F.A.,Young,W.M.,Johnson,G.C.,Whiting,R.E.,Coates,J.R.,Davidson,B.L.: :
AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease. Sci Transl Med 7:313ra180, 2015.
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2015 Whiting,R.E.,Pearce,J.W.,Castaner,L.J.,Jensen,C.A.,Katz,R.J.,Gilliam,D.H.,Katz,M.L.: :
Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res 134:123-32, 2015.
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2015 Gilliam,D.,Kolicheski,A.,Johnson,G.S.,Mhlanga-Mutangadura,T.,Taylor,J.F.,Schnabel,R.D.,Katz,M.L.: :
Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. Mol Genet Metab 115:101-9, 2015.
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2015 Kowalewski,B.,Heimann,P.,Ortkras,T.,Lüllmann-Rauch,R.,Sawada,T.,Walkley,S.U.,Dierks,T.,Damme,M.: :
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III). Hum Mol Genet 24:1856-68, 2015.
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2015 Guo,J.,O'Brien,D.P.,Mhlanga-Mutangadura,T.,Olby,N.J.,Taylor,J.F.,Schnabel,R.D.,Katz,M.L.,Johnson,G.S.: :
A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis. BMC Vet Res 10:960, 2015.
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2014 Whiting,R.E.,Narfström,K.,Yao,G.,Pearce,J.W.,Coates,J.R.,Castaner,L.J.,Jensen,C.A.,Dougherty,B.N.,Vuillemenot,B.R.,Kennedy,D.,O'Neill,C.A.,Katz,M.L.: :
Enzyme replacement therapy delays pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. Exp Eye Res 125:164-72, 2014.
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2014 Kowalewski,B.,Lübke,T.,Kollmann,K.,Braulke,T.,Reinheckel,T.,Dierks,T.,Damme,M.: :
Molecular characterization of arylsulfatase G: expression, processing, glycosylation, transport, and activity. J Biol Chem 289:27992-8005, 2014.
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2014 Guo,J.,Johnson,G.S.,Brown,H.A.,Provencher,M.L.,daCosta,R.C.,Mhlanga-Mutangadura,T.,Taylor,J.F.,Schnabel,R.D.,O'Brien,D.P.,Katz,M.L.: :
A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry. Mol Genet Metab 112:302-9, 2014.
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2013 Hasegawa,D.,Tamura,S.,Nakamoto,Y.,Matsuki,N.,Takahashi,K.,Fujita,M.,Uchida,K.,Yamato,O.: :
Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases. PLoS One 8:e83455, 2013.
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2013 Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013.
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2013 Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013.
Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 .
2013 Whiting,R.E.,Narfström,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.
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2013 Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013.
Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 .
2013 Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013.
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2013 Broeckx,B.J.,Coopman,F.,Verhoeven,G.E.,VanHaeringen,W.,vandeGoor,L.,Bosmans,T.,Gielen,I.,Saunders,J.H.,Soetaert,S.S.,VanBree,H.,VanNeste,C.,VanNieuwerburgh,F.,VanRyssen,B.,Verelst,E.,VanSteendam,K.,Deforce,D.: :
The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany. PLoS One 8:e74811, 2013.
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2013 Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013.
Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 .
2013 Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013.
Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 .
2013 Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013.
Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 .
2012 Mizukami,K.,Kawamichi,T.,Koie,H.,Tamura,S.,Matsunaga,S.,Imamoto,S.,Saito,M.,Hasegawa,D.,Matsuki,N.,Tamahara,S.,Sato,S.,Yabuki,A.,Chang,H.S.,Yamato,O.: :
Neuronal ceroid lipofuscinosis in Border Collie dogs in Japan: clinical and molecular epidemiological study (2000-2011). ScientificWorldJournal 2012:383174, 2012.
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2012 Kowalewski,B.,Lamanna,W.C.,Lawrence,R.,Damme,M.,Stroobants,S.,Padva,M.,Kalus,I.,Frese,M.A.,Lübke,T.,Lüllmann-Rauch,R.,D'Hooge,R.,Esko,J.D.,Dierks,T.: :
Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. Proc Natl Acad Sci U S A 109:10310-5, 2012.
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2011 Nakamoto,Y.,Yamato,O.,Uchida,K.,Nibe,K.,Tamura,S.,Ozawa,T.,Ueoka,N.,Nukaya,A.,Yabuki,A.,Nakaichi,M.: :
Neuronal ceroid-lipofuscinosis in longhaired Chihuahuas: clinical, pathologic, and MRI findings. J Am Anim Hosp Assoc 47:e64-70, 2011.
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2011 Katz,ML.,Farias,FH.,Sanders,DN.,Zeng,R.,Khan,S.,Johnson,GS.,O'Brien,DP.: :
A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. J Biomed Biotechnol 2011:198042, 2011.
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2011 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.: :
A reversal learning task detects cognitive deficits in a Dachshund model of late-infantile neuronal ceroid lipofuscinosis. Genes Brain Behav :, 2011.
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2011 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.: :
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2011 Mizukami,K.,Chang,H.S.,Yabuki,A.,Kawamichi,T.,Kawahara,N.,Hayashi,D.,Hossain,M.A.,Rahman,M.M.,Uddin,M.M.,Yamato,O.: :
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2011 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.,Seppälä,E.H.,Wade,C.M.,Lindblad-Toh,K.,O'Brien,D.P.,Katz,M.L.: :
A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. Neurobiol Dis 42:468-74, 2011.
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2011 Wöhlke,A.,Philipp,U.,Bock,P.,Beineke,A.,Lichtner,P.,Meitinger,T.,Distl,O.: :
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2010 Nibe,K.,Nakayama,H.,Uchida,K.: :
Comparative Study of Cerebellar Degeneration in Canine Neuroaxonal Dystrophy, Cerebellar Cortical Abiotrophy, and Neuronal Ceroid-Lipofuscinosis. J Vet Med Sci :, 2010.
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2010 Bellettato,C.M.,Scarpa,M.: :
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2010 Abitbol,M.,Thibaud,J.L.,Olby,N.J.,Hitte,C.,Puech,J.P.,Maurer,M.,Pilot-Storck,F.,Hédan,B.,Dréano,S.,Brahimi,S.,Delattre,D.,André,C.,Gray,F.,Delisle,F.,Caillaud,C.,Bernex,F.,Panthier,J.J.,Aubin-Houzelstein,G.,Blot,S.,Tiret,L.: :
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A 107:14775-80, 2010.
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2010 Bellettato,C.M.,Scarpa,M.: :
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2010 Bellettato,C.M.,Scarpa,M.: :
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2010 Sanders,DN.,Farias,FH.,Johnson,GS.,Chiang,V.,Cook,JR.,O'Brien,DP.,Hofmann,SL.,Lu,JY.,Katz,ML.: :
A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. Mol Genet Metab 100:349-56, 2010.
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2008 O'Brien,DP.,Katz,ML.: :
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2008 O'Brien,DP.,Katz,ML.: :
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2008 Katz,M.L.,Coates,J.R.,Cooper,J.J.,O'Brien,D.P.,Jeong,M.,Narfström,K.: :
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2007 Narfström,K.,Wrigstad,A.,Ekesten,B.,Berg,A.L.: :
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2007 Katz,ML.,Sanders,DN.,Mooney,BP.,Johnson,GS.: :
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2006 Awano,T.,Katz,ML.,O'Brien,DP.,Sohar,I.,Lobel,P.,Coates,JR.,Khan,S.,Johnson,GC.,Giger,U.,Johnson,GS.: :
A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol Genet Metab 89:254-60, 2006.
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2006 Buijtels,J.J.,Kroeze,E.J.,Voorhout,G.,Schellens,C.J.,vanNes,J.J.: :
[Cerebellar cortical degeneration in an American Staffordshire terrier]. Tijdschr Diergeneeskd 131:518-22, 2006.
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2006 Awano,T.,Katz,ML.,O'Brien,DP.,Taylor,JF.,Evans,J.,Khan,S.,Sohar,I.,Lobel,P.,Johnson,GS.: :
A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab 87:341-8, 2006.
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2005 Drogemulller,C.,Wohlke,A.,Distl,O.: :
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2005 Evans,J.,Katz,ML.,Levesque,D.,Shelton,GD.,deLahunta,A.,O'Brien,D.: :
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2005 Melville,SA.,Wilson,CL.,Chiang,CS.,Studdert,VP.,Lingaas,F.,Wilton,AN.: :
A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics 86:287-94, 2005.
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2005 Evans,J.,Katz,ML.,Levesque,D.,Shelton,GD.,deLahunta,A.,O'Brien,D.: :
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2005 Wöhlke,A.,Distl,O.,Drögemüller,C.: :
The canine CTSD gene as a candidate for late-onset neuronal ceroid lipofuscinosis. Anim Genet 36:530-2, 2005.
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2005 Katz,ML.,Khan,S.,Awano,T.,Shahid,SA.,Siakotos,AN.,Johnson,GS.: :
A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun 327:541-7, 2005.
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2005 Drogemulller,C.,Wohlke,A.,Distl,O.: :
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2005 Katz,ML.,Narfstrom,K.,Johnson,GS.,O'Brien,DP.: :
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 66:67-76, 2005.
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2004 Koie,H.,Shibuya,H.,Sato,T.,Sato,A.,Nawa,K.,Nawa,Y.,Kitagawa,M.,Sakai,M.,Takahashi,T.,Yamaya,Y.,Yamato,O.,Watari,T.,Tokuriki,M.: :
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2004 Koie,H.,Shibuya,H.,Sato,T.,Sato,A.,Nawa,K.,Nawa,Y.,Kitagawa,M.,Sakai,M.,Takahashi,T.,Yamaya,Y.,Yamato,O.,Watari,T.,Tokuriki,M.: :
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2004 Olby,N.,Blot,S.,Thibaud,JL.,Phillips,J.,O'Brien,DP.,Burr,J.,Berg,J.,Brown,T.,Breen,M.: :
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2004 Sisó,S.,Navarro,C.,Hanzlícek,D.,Vandevelde,M.: :
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2003 Kuwamura,M.,Hattori,R.,Yamate,J.,Kotani,T.,Sasai,K.: :
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2003 Rossmeisl,J.H.,Duncan,R.,Fox,J.,Herring,E.S.,Inzana,K.D.: :
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2003 Hanzlicek,D.,Kathmann,I.,Bley,T.,Srenk,P.,Botteron,C.,Gaillard,C.,Jaggy,A.: :
[Cerebellar cortical abiotrophy in American Staffordshire terriers: clinical and pathological description of 3 cases] Schweizer Archiv fur Tierheilkunde 145:369-75, 2003.
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2002 Vesa,J.,Chin,M.H.,Oelgeschläger,K.,Isosomppi,J.,DellAngelica,E.C.,Jalanko,A.,Peltonen,L.: :
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2002 Jolly,R.D.,Brown,S.,Das,A.M.,Walkley,S.U.: :
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2002 Katz,M.L.,Sanders,D.A.,Sanders,D.N.,Hansen,E.A.,Johnson,G.S.: :
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2001 Katz,M.L.,Shibuya,H.,Johnson,G.S.: :
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2001 Siakotos,A.N.,Hutchins,G.D.,Farlow,M.R.,Katz,M.L.: :
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2000 Minatel,L.,Underwood,S.C.,Carfagnini,J.C.: :
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1999 Franks,J.N.,Dewey,C.W.,Walker,M.A.,Storts,R.W.: :
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1998 Lingaas,F.,Aarskaug,T.,Sletten,M.,Bjerkas,I.,Grimholt,U.,Moe,L.,Juneja,R.K.,Wilton,A.N.,Galibert,F.,Holmes,N.G.,Dolf,G.: :
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1998 Shibuya,H.,Liu,P.C.,Katz,M.L.,Siakotos,A.N.,Nonneman,D.J.,Johnson,G.S.: :
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 Journal of Neuroscience Research 52:268-275, 1998.
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1998 Siakotos,A.N.,Blair,P.S.,Savill,J.D.,Katz,M.L.: :
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1997 Jolly,R.D.,Sutton,R.H.,Smith,R.I.E.,Palmer,D.N.: :
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1997 Nilsson,S.E.,Wrigstad,A.: :
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1997 Palmer,D.N.,Jolly,R.D.,vanMil,H.C.,Tyynelä,J.,Westlake,V.J.: :
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1997 Palmer,D.N.,Tyynela,J.,Vanmil,H.C.,Westlake,V.J.,Jolly,R.D.: :
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1996 Cantile,C.,Buonaccorsi,A.,Pepe,V.,Arispici,M.: :
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1996 Smith,R.,Sutton,R.,Jolly,R.,Smith,K.: :
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1995 Elleder,M.,Drahota,Z.,Lisa,V.,Mares,V.,Mandys,V.,Muller,J.,Palmer,D.N.: :
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1995 Jolly,R.D.: :
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1995 March,P.A.,Wurzelmann,S.,Walkley,S.U.: :
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1995 Narfström,K.,Wrigstad,A.: :
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1995 Wrigstad,A.,Nilsson,S.E.G.,Dubielzig,R.,Narfstrom,K.: :
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1995 Katz,M.L.,Siakotos,A.N.: :
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1995 Kitani,K.,Senda,M.,Toyama,H.,Miyasaka,K.,Kanai,S.,Ohta,M.,Ivy,G.O.,Koppang,N.: :
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1995 Savill,J.,Azzarelli,B.,Siakotos,A.N.: :
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1995 Siakotos,A.N.,Schnippel,K.,Lin,R.C.,Vankuijk,F.J.G.M.: :
Biosynthesis and metabolism of 4-hydroxynonenal in canine ceroid-lipofuscinosis American Journal of Medical Genetics 57:290-293, 1995.
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1994 Jolly,R.D.,Palmer,D.N.,Studdert,V.P.,Sutton,R.H.,Kelly,W.R.,Koppang,N.,Dahme,G.,Hartley,W.J.,Patterson,J.S.,Riis,R.C.: :
Canine ceroid-lipofuscinoses: A review and classification Journal of Small Animal Practice 35:299-306, 1994.
1994 Jolly,RD.,Hartley,WJ.,Jones,BR.,Johnstone,AC.,Palmer,AC.,Blakemore,WF.: :
Generalised ceroid-lipofuscinosis and brown bowel syndrome in Cocker spaniel dogs. N Z Vet J 42:236-9, 1994.
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1994 Dunn,W.A.,Raizada,M.K.,Vogt,E.S.,Brown,E.A.: :
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1994 Katz,M.L.,Christianson,J.S.,Norbury,N.E.,Gao,C.L.,Siakotos,A.N.,Koppang,N.: :
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1993 Armstrong,D.,Ulshafer,R.: :
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1992 Taylor,R.M.,Farrow,B.R.H.: :
Ceroid Lipofuscinosis in the Border Collie Dog - Retinal Lesions in an Animal Model of Juvenile Batten Disease American Journal of Medical Genetics 42:622-627, 1992.
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1992 Banerjee,P.,Dasgupta,A.,Siakotos,A.N.,Dawson,G.: :
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1992 Goebel,H.H.: :
Retina in Various Animal Models of Neuronal Ceroid- Lipofuscinosis American Journal of Medical Genetics 42:605-608, 1992.
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1992 Koppang,N.: :
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1992 Alroy,J.,Schelling,SH.,Thalhammer,JG.,Raghavan,SS.,Natowicz,MR.,Prence,EM.,Orgad,U.: :
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1991 Studdert,V.P.,Mitten,R.W.: :
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1990 Sisk,D.B.,Levesque,D.C.,Wood,P.A.,Styer,E.L.: :
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1990 Deeg,H.J.,Shulman,H.M.,Albrechtsen,D.,Graham,T.C.,Storb,R.,Koppang,N.: :
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1988 Goebel,H.H.,Bilzer,T.,Dahme,E.,Malkusch,F.: :
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1988 Siakotos,A.N.,Bray,R.,Dratz,E.,vanKuijk,F.,Sevanian,A.,Koppang,N.: :
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1987 Koppang,N.: :
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1986 Goebel,H.H.,Dahme,E.: :
Ultrastructure of retinal pigment epithelial and neural cells in the neuronal ceroid-lipofuscinosis affected Dalmatian dog. Retina 6:179-87, 1986.
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1985 Umemura,T.,Sato,H.,Goryo,M.,Itakura,C.: :
Generalized lipofuscinosis in a dog. Nihon Juigaku Zasshi 47:673-7, 1985.
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1984 Keller,R.K.,Armstrong,D.,Crum,F.C.,Koppang,N.: :
Dolichol and dolichyl phosphate levels in brain tissue from English setters with ceroid lipofuscinosis. J Neurochem 42:1040-7, 1984.
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1983 Nilsson,S.E.,Armstrong,D.,Koppang,N.,Persson,P.,Milde,K.: :
Studies on the retina and the pigment epithelium in hereditary canine ceroid lipofuscinosis. IV. Changes in the electroretinogram and the standing potential of the eye. Invest Ophthalmol Vis Sci 24:77-84, 1983.
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1982 Appleby,E.C.,Longstaffe,J.A.,Bell,F.R.: :
Ceroid-lipofuscinosis in two Saluki dogs. J Comp Pathol 92:375-80, 1982.
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1982 Armstrong,D.,Koppang,N.,Nilsson,S.E.: :
Canine hereditary ceroid lipofuscinosis European Neurology 21:147-156, 1982.
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1982 NimmoWilkie,JS.,Hudson,EB.: :
Neuronal and generalized ceroid-lipofuscinosis in a cocker spaniel. Vet Pathol 19:623-8, 1982.
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1980 Armstrong,D.,Neville,H.,Siakotos,A.,Wilson,B.,Wehling,C.,Koppang,N.: :
Morphological and biochemical abnormalities in a model of retinal degeneration: Canine ceroid-lipofuscinosis (CCL). Neurochem Int 1C:405-26, 1980.
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1980 Neville,H.,Armstrong,D.,Wilson,B.,Koppang,N.,Wehling,C.: :
Studies on the retina and the pigment epithelium in hereditary canine ceroid lipofuscinosis. III. Morphologic abnormalities in retinal neurons and retinal pigmented epithelial cells. Invest Ophthalmol Vis Sci 19:75-86, 1980.
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1975 Berson,E.L.,Watson,G.: :
Electroretinograms in English Setters with neuronal ceroid lipofuscinosis Investigative Ophthalmology and Visual Science 19:87-90, 1975.
1973 Koppang,N.: :
Canine ceroid-lipofuscinosis. A model for human neuronal ceroid-lipofuscinosis and aging Mech Ageing Dev 2:421-445, 1973.
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1970 Koppang,N.: :
Neuronal ceroid-lipofuscinosis in English setters Journal of Small Animal Practice 10:639-644, 1970.
1965 Fankhauser,R.: :
[Degenerative lipoidosis of the central nervous system in two dogs.] Degenerative, lipoidiotische Erkrankung des zentral nervens system bei zwie hunden Schweizer Archiv fur Tierheilkunde 107:73-87, 1965.