His main research concerns Genetics, Mutation, Missense mutation, Gene and CLN8. His study in Locus, Genetic heterogeneity, Positional cloning, Progressive myoclonus epilepsy and Frameshift mutation are all subfields of Genetics. Anna-Elina Lehesjoki has included themes like Ataxia and Cystatin B in his Progressive myoclonus epilepsy study.
Anna-Elina Lehesjoki studies Exome, a branch of Mutation. His Missense mutation research incorporates themes from Exome sequencing, Compound heterozygosity, Point mutation and Epilepsy. His biological study spans a wide range of topics, including Myopathy, Cerebellar ataxia, Marinesco–Sjögren syndrome and Protein folding.
Anna-Elina Lehesjoki mostly deals with Genetics, Progressive myoclonus epilepsy, Epilepsy, Pathology and Cystatin B. His studies in Gene, Missense mutation, Mutation, Locus and Genetic linkage are all subfields of Genetics research. His Missense mutation research includes elements of Exome sequencing, Compound heterozygosity and Frameshift mutation.
The study of Progressive myoclonus epilepsy is intertwined with the study of Endocrinology in a number of ways. His research in Epilepsy intersects with topics in Phenotype, Pediatrics, Bioinformatics and Cohort. He focuses mostly in the field of Cystatin B, narrowing it down to matters related to Neurodegeneration and, in some cases, Gliosis.
The scientist’s investigation covers issues in Genetics, Epilepsy, Progressive myoclonus epilepsy, Exome sequencing and Missense mutation. His study deals with a combination of Genetics and NEU1. Anna-Elina Lehesjoki combines subjects such as Pediatrics, Cohort and Bioinformatics with his study of Epilepsy.
His work carried out in the field of Progressive myoclonus epilepsy brings together such families of science as Ataxia and Cystatin B. The various areas that he examines in his Cystatin B study include Endocrinology, Neurodegeneration, Microglia, Internal medicine and Cell biology. Anna-Elina Lehesjoki interconnects Molecular biology and Compound heterozygosity in the investigation of issues within Missense mutation.
Anna-Elina Lehesjoki focuses on Epilepsy, Genetics, Exome sequencing, Bioinformatics and Exome. His Epilepsy study combines topics from a wide range of disciplines, such as Ataxia, Pediatrics and Cohort. His research on Genetics frequently links to adjacent areas such as Dravet syndrome.
In Exome sequencing, Anna-Elina Lehesjoki works on issues like Missense mutation, which are connected to Point mutation and Compound heterozygosity. His study in Bioinformatics is interdisciplinary in nature, drawing from both Mutation, Polymicrogyria and Intellectual disability. His Mutation study combines topics in areas such as Internal medicine and Endocrinology.
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Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)
Len A. Pennacchio;Anna-Elina Lehesjoki;Nancy E. Stone;Virginia L. Willour.
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.
Eija Siintola;Sanna Partanen;Petter Strömme;Aleksi Haapanen.
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Johannes R Lemke;Dennis Lal;Eva M Reinthaler;Isabelle Steiner.
Nature Genetics (2013)
Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport
Juha Kolehmainen;Graeme C.M. Black;Graeme C.M. Black;Anne Saarinen;Kate Chandler.
American Journal of Human Genetics (2003)
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
Susanna Ranta;Yonghui Zhang;Barbara Ross;Liina Lonka.
Nature Genetics (1999)
WNT1 Mutations in Early-onset Osteoporosis and Osteogenesis Imperfecta
Christine M. Laine;Kyu Sang Joeng;Philippe M. Campeau;Riku Kiviranta.
The New England Journal of Medicine (2013)
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Maria Kousi;Anna-Elina Lehesjoki;Sara E. Mole.
Human Mutation (2012)
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Steffen Syrbe;Ulrike B.S. Hedrich;Erik Riesch;Tania Djémié.
Nature Genetics (2015)
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
Tarja Joensuu;Riikka Hämäläinen;Bo Yuan;Cheryl Johnson.
American Journal of Human Genetics (2001)
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Mikko Muona;Samuel F. Berkovic;Leanne M. Dibbens;Karen L. Oliver.
Nature Genetics (2015)
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