...Adult-Onset Neuronal Ceroid Lipofuscinosis (ATPI 3A2, Tibetan Terrier Variant) Late-Onset...

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Transcript of ...Adult-Onset Neuronal Ceroid Lipofuscinosis (ATPI 3A2, Tibetan Terrier Variant) Late-Onset...

Page 1: ...Adult-Onset Neuronal Ceroid Lipofuscinosis (ATPI 3A2, Tibetan Terrier Variant) Late-Onset Neuronal Ceroid Lipofuscinosis (ATP13A2, Australian Cattle Dog …
Page 2: ...Adult-Onset Neuronal Ceroid Lipofuscinosis (ATPI 3A2, Tibetan Terrier Variant) Late-Onset Neuronal Ceroid Lipofuscinosis (ATP13A2, Australian Cattle Dog …
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Greaves, J., Lemonidis, K., Gorleku, O. A., Cruchaga, C ...eprints.gla.ac.uk/73567/1/73567.pdf · generative disorder adult-onset neuronal ceroid ... imal effect of the mutations

Greaves, J., Lemonidis, K., Gorleku, O. A., Cruchaga, C ...eprints.gla.ac.uk/73567/1/73567.pdf · generative disorder adult-onset neuronal ceroid ... imal effect of the mutations

Neuronal Modeling

Neuronal Modeling

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis ...Figure 1 Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and patients with frontotemporal dementia (A) Pedigree

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis ...Figure 1 Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and patients with frontotemporal dementia (A) Pedigree

Exacerbated neuronal ceroid lipofuscinosis phenotype in ... · PPT1, a soluble lysosomal enzyme that is involved in depalmitoylation of proteins (Camp and Hofmann, 1993), although

Exacerbated neuronal ceroid lipofuscinosis phenotype in ... · PPT1, a soluble lysosomal enzyme that is involved in depalmitoylation of proteins (Camp and Hofmann, 1993), although

Neuronal Function

Neuronal Function

Lipofuscinosis of the gastrointestinal tract in manJ. clin. Path. (1967), 20, 806 Lipofuscinosis ofthe gastrointestinal tract in man BERNARD FOX Fromthe DepartmentofMorbidAnatomy,

Lipofuscinosis of the gastrointestinal tract in manJ. clin. Path. (1967), 20, 806 Lipofuscinosis ofthe gastrointestinal tract in man BERNARD FOX Fromthe DepartmentofMorbidAnatomy,

WSC 14-15 Conf 1 Layout - AskJPCATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. Neurobiology of Disease. 2011; 42: 468-474. 7. Fiske RA,

WSC 14-15 Conf 1 Layout - AskJPCATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. Neurobiology of Disease. 2011; 42: 468-474. 7. Fiske RA,

Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) l Rare, autosomal recessive, fatal lysosomal storage disease with extensive CNS neurodegeneration.

Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) l Rare, autosomal recessive, fatal lysosomal storage disease with extensive CNS neurodegeneration.

Low Levels of Human HIP14 Are Sufficient to Rescue … · 2017. 3. 23. · the thioesterase PPT1 (Entrez Gene ID 5538) that result in neuronal ceroid lipofuscinosis [14]. Huntington

Low Levels of Human HIP14 Are Sufficient to Rescue … · 2017. 3. 23. · the thioesterase PPT1 (Entrez Gene ID 5538) that result in neuronal ceroid lipofuscinosis [14]. Huntington

RESEARCH Open Access Deregulation of subcellular ......Neuronal ceroid lipofuscinoses (NCLs), commonly known as Batten diseases, are a genetically heteroge-neous group of lysosomal

RESEARCH Open Access Deregulation of subcellular ......Neuronal ceroid lipofuscinoses (NCLs), commonly known as Batten diseases, are a genetically heteroge-neous group of lysosomal

NEURONAL CEROID-LIPOFUSCINOSIS WITH PROMINENT CHOREA … · neuronal ceroid-lipofuscinosis with prominent chorea and without visual manifestations ... pyramidal syndrome and

NEURONAL CEROID-LIPOFUSCINOSIS WITH PROMINENT CHOREA … · neuronal ceroid-lipofuscinosis with prominent chorea and without visual manifestations ... pyramidal syndrome and

Copyright is owned by the Author of the thesis. Permission ... · PDF fileClassification of the neuronal ceroid-lipofuscinoses. ... The white structures are autofluorescent ... fibres

Copyright is owned by the Author of the thesis. Permission ... · PDF fileClassification of the neuronal ceroid-lipofuscinoses. ... The white structures are autofluorescent ... fibres

Neuronal culture

Neuronal culture

Disruption of PPT1or PPT2causes neuronal ceroid lipofuscinosis … · 2011-03-29 · (D) PPT2 immu-noblotting of kidney extracts from wild-type and PPT2 knockout mice. A 35-kDa band,

Disruption of PPT1or PPT2causes neuronal ceroid lipofuscinosis … · 2011-03-29 · (D) PPT2 immu-noblotting of kidney extracts from wild-type and PPT2 knockout mice. A 35-kDa band,

Neuronal plasticity

Neuronal plasticity

PATHOPHYSIOLOGY AND ETIOLOGY OF DYSTONIA: FOCUS ON …upandrunningnetworks.com › files › C97_3.pdf · dystonia, corticobasal syndrome, and neuronal ceroid lipofuscinosis (NCL).

PATHOPHYSIOLOGY AND ETIOLOGY OF DYSTONIA: FOCUS ON …upandrunningnetworks.com › files › C97_3.pdf · dystonia, corticobasal syndrome, and neuronal ceroid lipofuscinosis (NCL).

Primary Neuronal Culture - STEMCELL Technologies · 3 Primary Neuronal Culture Primary neuronal cultures have long been a powerful system with which to study neuronal biology in a

Primary Neuronal Culture - STEMCELL Technologies · 3 Primary Neuronal Culture Primary neuronal cultures have long been a powerful system with which to study neuronal biology in a

pupillary light reflex deficits in a canine model of neuronal ceroid lipofuscinosis and the effects of

pupillary light reflex deficits in a canine model of neuronal ceroid lipofuscinosis and the effects of

NeurobiologyofDisease Self ... · NeurobiologyofDisease Self-ComplementaryAAV9GeneDeliveryPartiallyCorrects PathologyAssociatedwithJuvenileNeuronalCeroid Lipofuscinosis(CLN3) XMeganE.Bosch,1

NeurobiologyofDisease Self ... · NeurobiologyofDisease Self-ComplementaryAAV9GeneDeliveryPartiallyCorrects PathologyAssociatedwithJuvenileNeuronalCeroid Lipofuscinosis(CLN3) XMeganE.Bosch,1

Neuronal Transmission

Neuronal Transmission