<> <http://www.w3.org/2000/01/rdf-schema#comment> "The repository administrator has not yet configured an RDF license."^^<http://www.w3.org/2001/XMLSchema#string> . <> <http://xmlns.com/foaf/0.1/primaryTopic> <https://discovery.ucl.ac.uk/id/eprint/10145246> . <https://discovery.ucl.ac.uk/id/eprint/10145246> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Thesis> . <https://discovery.ucl.ac.uk/id/eprint/10145246> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Article> . <https://discovery.ucl.ac.uk/id/eprint/10145246> <http://purl.org/dc/terms/title> "Genetics of amyotrophic lateral sclerosis and frontotemporal dementia and the potential for discovering new genes and pathways underlying these neurological disorders"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/10145246> <http://purl.org/ontology/bibo/abstract> "Despite tremendous progress in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) genetic research over the last two decades, only 20% to 40% of the underlying genetic causes have been discovered. Several genes responsible for these two neurological disorders remain to be discovered. During my Ph.D., I utilized the current state-of-the-art exome and whole-genome sequencing technologies to discover new loci underlying ALS and FTD. This genetic knowledge helps to unravel the complex etiology of these disorders and paves the way for targeted therapies.\r\n\r\nChapter 1 of this thesis talks about the evolution of genetic research in the past two decades. Chapter 2 introduces ALS and FTD, the two neurological disorders that are the focus of my thesis. Chapter 3 provides an overview of the genetics of ALS and FTD. Chapter 4 describes the discovery of the new gene linked to juvenile ALS, serine palmitoyltransferase long chain subunit 1 (SPTLC1), and proposes a treatment for the patients carrying mutations in this gene. Chapter 5 demonstrates that exome sequencing is a powerful technique for the analysis of rare hereditary conditions. I describe the discovery of gelsolin p.D187Y amino acid change, which was previously linked to hereditary amyloidosis type 4, in a large family in which multiple members were affected by bulbar neuropathy mimicking bulbar ALS. Chapter 6 discusses the role of the highly polymorphic locus replication factor C subunit 1 (RFC1) in ALS. Chapter 7 describes our whole-genome sequencing efforts in dementia and examines the data for the frequency of intermediate-size repeat expansions in genes previously linked to neurodegeneration."^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/10145246> <http://purl.org/dc/terms/date> "2022-03-28" . <https://discovery.ucl.ac.uk/id/document/1456205> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Document> . <https://discovery.ucl.ac.uk/id/org/ext-a64c3df5861c6582807add1abaadf2af> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Organization> . <https://discovery.ucl.ac.uk/id/org/ext-a64c3df5861c6582807add1abaadf2af> <http://xmlns.com/foaf/0.1/name> "UCL (University College London)"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/10145246> <http://purl.org/dc/terms/issuer> <https://discovery.ucl.ac.uk/id/org/ext-a64c3df5861c6582807add1abaadf2af> . <https://discovery.ucl.ac.uk/id/org/ext-a8288b53794e63eb649e3ec95fef4b36> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Organization> . <https://discovery.ucl.ac.uk/id/org/ext-a8288b53794e63eb649e3ec95fef4b36> <http://xmlns.com/foaf/0.1/name> "Institute of Neurology, UCL (University College London)"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/org/ext-a8288b53794e63eb649e3ec95fef4b36> <http://purl.org/dc/terms/isPartOf> <https://discovery.ucl.ac.uk/id/org/ext-a64c3df5861c6582807add1abaadf2af> . <https://discovery.ucl.ac.uk/id/eprint/10145246> <http://purl.org/dc/terms/issuer> <https://discovery.ucl.ac.uk/id/org/ext-a8288b53794e63eb649e3ec95fef4b36> . <https://discovery.ucl.ac.uk/id/org/ext-a64c3df5861c6582807add1abaadf2af> <http://purl.org/dc/terms/hasPart> <https://discovery.ucl.ac.uk/id/org/ext-a8288b53794e63eb649e3ec95fef4b36> . <https://discovery.ucl.ac.uk/id/eprint/10145246> <http://purl.org/ontology/bibo/status> <http://purl.org/ontology/bibo/status/unpublished> . <https://discovery.ucl.ac.uk/id/eprint/10145246> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-f4a6608ed4fb793c93cdf579d0b32626> . <https://discovery.ucl.ac.uk/id/eprint/10145246> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10145246#authors> . <https://discovery.ucl.ac.uk/id/eprint/10145246#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_1> <https://discovery.ucl.ac.uk/id/person/ext-f4a6608ed4fb793c93cdf579d0b32626> . <https://discovery.ucl.ac.uk/id/person/ext-f4a6608ed4fb793c93cdf579d0b32626> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-f4a6608ed4fb793c93cdf579d0b32626> <http://xmlns.com/foaf/0.1/givenName> "Yevgeniya"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-f4a6608ed4fb793c93cdf579d0b32626> <http://xmlns.com/foaf/0.1/familyName> "Abramzon"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-f4a6608ed4fb793c93cdf579d0b32626> <http://xmlns.com/foaf/0.1/name> "Yevgeniya Abramzon"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/10145246> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/EPrint> . <https://discovery.ucl.ac.uk/id/eprint/10145246> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/ThesisEPrint> . <https://discovery.ucl.ac.uk/id/eprint/10145246> <http://purl.org/dc/terms/isPartOf> <https://discovery.ucl.ac.uk/id/repository> . <https://discovery.ucl.ac.uk/id/eprint/10145246> <http://eprints.org/ontology/hasDocument> <https://discovery.ucl.ac.uk/id/document/1456205> . <https://discovery.ucl.ac.uk/id/document/1456205> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/Document> . 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