Relevant bibliographies by topics / CLN6

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  1. Dissertations / Theses

Academic literature on the topic 'CLN6'

Author: Grafiati
Published: 14 March 2023

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Dissertations / Theses on the topic "CLN6"

1

Martin, Yella. "Investigation of the Batten Disease protein CLN6." Thesis, University College London (University of London), 2006. http://discovery.ucl.ac.uk/1444803/.

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The neuronal ceroid lipofuscinoses (NCLs, Batten Disease) are a group of lysosomal storage disorders caused by mutations in known and unknown proteins with different cellular locations. Mutations in the CLN6 gene cause a type of variant late infantile NCL (vLINCL). The CLN6 protein is located in the ER and how mutations in CLN6 cause accumulation of storage material in the lysosome is unclear. The aims of this thesis were to establish the tools and techniques necessary to analyse the CLN6 protein and to utilise these to investigate its subcellular location, to identify proteins that interact w
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2

Mohd, Ismail Izmira Farhana. "Identification of a novel mutation in the CLN6 gene (CLN6) in South Hampshire sheep affected with Neuronal Ceroid Lipofuscinosis." Thesis, The University of Sydney, 2014. http://hdl.handle.net/2123/14579.

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Neuronal ceroid lipofuscinoses (NCL/Batten disease) are a group of fatal inherited neurodegenerative diseases that occur in many species including humans, sheep, dogs and cattle. Typical NCL symptoms include progressive loss of vision, regression of mental and motor development, epileptic seizures and premature death. Currently there is no effective treatment or cure for NCL, with the underlying disease mechanisms still poorly understood. Advances in molecular genetics in recent years have allowed the characterisation of hundreds of causative mutations and polymorphisms in at least 17 disease-
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3

Cramer, Thomas [Verfasser]. "Generierung monoklonaler Antikörper gegen das Protein CLN6 / Thomas Cramer." Halle, 2017. http://d-nb.info/118038783X/34.

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4

Alves, Mariana Isabel Quaresma da Rocha. "Ceroido-Lipofuscinose Neuronal. Estudos de localização celular da proteína CLN6." Master's thesis, Faculdade de Medicina da Universidade do Porto, 2007. http://hdl.handle.net/10216/22151.

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5

Alves, Mariana Isabel Quaresma da Rocha. "Ceroido-Lipofuscinose Neuronal. Estudos de localização celular da proteína CLN6." Dissertação, Faculdade de Medicina da Universidade do Porto, 2007. http://hdl.handle.net/10216/22151.

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6

Dahlmann, Cordula [Verfasser]. "Retinaler Phänotyp dreier Mausmodelle für die neuronale Ceroidlipofuszinose : (CLN1-knockout Mausmodell, CLN3Δex7/8-knock-in Mausmodell und CLN6-knockout Mausmodell) / Cordula Dahlmann". Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2013. http://d-nb.info/1031097074/34.

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7

Lauronen, Leena. "Neuromagnetic studies on somatosensory functions in CLN3, CLN5 and CLN8 forms of neuronal ceroid lipofuscinoses." Helsinki : University of Helsinki, 2001. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/lauronenle/.

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8

Trusso, Maria Allegra. "THE GENETICS OF BIPOLAR DISORDER AND THE ROLE OF HETEROZYGOSITY FOR NEURONAL CEROID LIPOFUSCINOSIS." Doctoral thesis, Università di Siena, 2022. http://hdl.handle.net/11365/1214195.

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Introduction. Bipolar Disorder (BD) is an heritable chronic mental disorder causing psychosocial impairment, affecting patients with depressive/manic episodes. The familial transmission of BD does not follow any of the simple Mendelian patterns of inheritance, demonstrating the involvement of multiple susceptibility genes. Materials and Method. Whole Exome Sequencing (WES) was performed in eight subjects of a large family counting twelve BD affected people. We selected variants in common between the affected subjects, once including and once excluding a “borderline” subject with mode
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9

Krzoska, Marta [Verfasser], and Thomas [Akademischer Betreuer] Braulke. "Untersuchungen zur Interaktion des krankheitsrelevanten CLN6-Proteins mit der Inositollipidphosphatase TPIP / Marta Krzoska. Betreuer: Thomas Braulke." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2011. http://d-nb.info/1020384301/34.

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10

Bessa, Carlos Jorge Pereira. "Molecular pathophysiology underlyng neuronal ceroid lipofuscinoses: CLN2 and CLN5." Doctoral thesis, Instituto de Ciências Biomédicas Abel Salazar, 2009. http://hdl.handle.net/10216/24457.

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