نتائج البحث - "Angela, Pyle"

1

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts

المؤلفون: Anna L. Guyatt, Angela Pyle, Patrick F. Chinnery, Heather J. Cordell, Santiago Rodriguez, Raimondo Ascione, Gavin Hudson, Rebecca R. Brennan, Kimberley Burrows, Debbie A Lawlor, Susan M. Ring, Tom R. Gaunt, Philip A. I. Guthrie

المساهمون: Apollo - University of Cambridge Repository, Chinnery, Patrick [0000-0002-7065-6617]

المصدر: Human Genomics, Vol 13, Iss 1, Pp 1-17 (2019)
Human Genomics
Guyatt, A L, Brennan, R R, Burrows, K, Guthrie, P A I, Ascione, R, Ring, S M, Gaunt, T R, Pyle, A, Cordell, H J, Lawlor, D A, Chinnery, P F, Hudson, G & Rodriguez, S 2019, ' A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts ', Human Genomics, vol. 13, no. 1, 6 . https://doi.org/10.1186/s40246-018-0190-2Test

وصف الملف: application/pdf; application/octet-stream

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6d9bf098d7149352446bcccb9a554fcTest

2

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

المؤلفون: Florence Burté, Patrick Yu-Wai-Man, Angela Pyle, Michela Rugolo, Isabel Diebold, Maria Lucia Valentino, Stephanie Kleinle, Rita Horvath, Valerio Carelli, Rocco Liguori, Selena Trifunov, Jennifer Duff

المساهمون: Trifunov S., Pyle A., Valentino ML., Liguori R., Yu-Wai-Man P., Burté F., Duff J., Kleinle S., Diebold I., Rugolo M., Horvath R., Carelli V., Kleinle, Stephanie [0000-0003-0135-7143], Apollo - University of Cambridge Repository

المصدر: Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: 0301 basic medicine, Male, Biopsy, Muscle Fibers, Skeletal, Gene Dosage, lcsh:Medicine, Genome, Polymerase Chain Reaction, Oxidative Phosphorylation, GTP Phosphohydrolases, MYOPATHY, 0302 clinical medicine, Digital polymerase chain reaction, lcsh:Science, Microdissection, Sequence Deletion, Genetics, Multidisciplinary, Middle Aged, Phenotype, MITOCHONDRIAL DNA DELETION, Heteroplasmy, Succinate Dehydrogenase, OPA1 MUTATIONS, Female, FIBERS, Adult, Mitochondrial DNA, Adolescent, Mitochondrial disease, HUMAN OOCYTES, PHENOTYPES, Genes, Recessive, Biology, HUMAN SKELETAL MUSCLE, Gene dosage, DNA, Mitochondrial, Article, MECHANISMS, Electron Transport Complex IV, 03 medical and health sciences, Young Adult, medicine, Humans, Aged, Muscle Cells, OPTIC ATROPHY, lcsh:R, Reproducibility of Results, medicine.disease, MAINTENANCE, 030104 developmental biology, Mutation, lcsh:Q, 030217 neurology & neurosurgery

وصف الملف: ELETTRONICO; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::724a3102df67f66837e5cd5a056b9e36Test

3

Cell-free mitochondrial DNA in progressive multiple sclerosis

المؤلفون: Hannah, Lowes, Angela, Pyle, Martin, Duddy, Gavin, Hudson

المصدر: Mitochondrion. 46

مصطلحات موضوعية: Aged, 80 and over, Male, Multiple Sclerosis, Humans, Female, Middle Aged, Cell-Free Nucleic Acids, DNA, Mitochondrial, Biomarkers, Article, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::9bbcd9f49aa56dee920c7bb07d030cc5Test
https://pubmed.ncbi.nlm.nih.gov/30098422Test

4

Genetic heterogeneity of motor neuropathies

المؤلفون: Helen Griffin, Thalia Antoniadi, Venkateswaran Ramesh, Rita Horvath, Teresinha Evangelista, Mark Greenslade, Anna Bradshaw, Edit Franko, Stephanie Kleinle, Hanns Lochmüller, Patrick F. Chinnery, B Bansagi, Hannah E. Steele, Natalie Forester, James Miller, Angela Pyle, Roger G. Whittaker, Veronika Boczonadi, Jennifer Duff

المساهمون: Chinnery, Patrick [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: Neurology

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Neuromuscular transmission, Neural Conduction, Electromyography, Disease, Article, Connexins, GTP Phosphohydrolases, Cohort Studies, Mitochondrial Proteins, 03 medical and health sciences, Genetic Heterogeneity, Young Adult, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Internal medicine, Medicine, Humans, Young adult, Exome sequencing, Aged, Family Health, Analysis of Variance, medicine.diagnostic_test, Genetic heterogeneity, business.industry, Middle Aged, 3. Good health, 030104 developmental biology, England, Mutation, Demyelinating motor neuropathy, Female, Neurology (clinical), business, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery, Myelin Proteins, Cohort study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3336587dc8fac66b450556b0f38426daTest
https://www.repository.cam.ac.uk/handle/1810/298183Test

5

Hypomorphic mutations in POLR_{3}A$ are a frequent cause of sporadic and recessive spastic ataxia

المؤلفون: Ina Schmitt, Oliver Brüstle, Rajech Sharkia, Kristina Rehbach, Stefan Herms, Jennifer Reichbauer, Feifei Tao, Peter De Jonghe, Susanne Greschus, Garth A. Nicholson, Alfredo Ramirez, Stefanie Heilmann-Heimbach, Ludger Schöls, Michael E. Shy, Thomas Klockgether, Paolo Carloni, Holger Wagner, Dagmar Timmann, Claudia Stendel, Delia Kurzwelly, Marina L. Kennerson, Matthis Synofzik, Patrick F. Chinnery, Wolfgang Maier, Stephan Züchner, Peter Bauer, Angela Pyle, Tim W. Rattay, Michael Peitz, Katrin Amunts, Burcu Atasu, Rüdiger Stirnberg, Holger Hengel, Jonathan Baets, Shawna M. E. Feely, Jürgen Kohlhase, Holger Thiele, M. Lennarz, Janine Altmüller, Ilker Karaca, Katherine D. Mathews, Muhammad Mahanjah, Tobias Lindig, Johanna Jung, Alejandro Giorgetti, Rebecca Schüle, Ebba Lohmann, Marc Sturm, Michael Wolf, Rita Horvath, Thomas Klopstock, Michael A. Gonzalez, Martina Minnerop, Peter Nürnberg, Anne S. Soehn, Sandra Roeske

المصدر: Brain
Brain 140(6), 1561-1578 (2017). doi:10.1093/brain/awx095

مصطلحات موضوعية: 0301 basic medicine, Gerontology, Male, leukodystrophy, POLR3A, cerebellar ataxia, hereditary spastic paraplegia, spastic ataxia, Medizin, Cell Culture Techniques, genetics [Introns], physiopathology [Spinocerebellar Ataxias], POLR3A protein, human, genetics [Muscle Spasticity], Compound heterozygosity, genetics [Optic Atrophy], 0302 clinical medicine, diagnostic imaging [Intellectual Disability], Spastic, genetics [Spinocerebellar Ataxias], Exome sequencing, Genetics, diagnostic imaging [Spastic Paraplegia, Hereditary], genetics [Exons], Middle Aged, Pedigree, Phenotype, Female, medicine.symptom, physiopathology [Optic Atrophy], Ataxia, diagnostic imaging [Optic Atrophy], diagnostic imaging [Spinocerebellar Ataxias], Hereditary spastic paraplegia, physiopathology [Intellectual Disability], Induced Pluripotent Stem Cells, Neurogenetics, Biology, 03 medical and health sciences, genetics [Spastic Paraplegia, Hereditary], physiopathology [Spastic Paraplegia, Hereditary], medicine, Humans, genetics [RNA Polymerase III], ddc:610, Genetic Association Studies, Aged, Cerebellar ataxia, physiopathology [Muscle Spasticity], Leukodystrophy, diagnostic imaging [Muscle Spasticity], RNA Polymerase III, modeling, Original Articles, medicine.disease, 030104 developmental biology, Mutation, Neurology (clinical), Human medicine, genetics [Intellectual Disability], 030217 neurology & neurosurgery

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5b4967b5395f39db1a93672e9e798bTest
https://hdl.handle.net/10067/1426480151162165141Test

6

Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization

المؤلفون: Shona Bennett, Jennifer Duff, Tania Smertenko, Patrick Yu Wai Man, Patrick F. Chinnery, Helen Griffin, Angela Pyle, Mauro Santibanez-Koref, Rita Horvath, Simon Zwolinski

المصدر: Journal of Neurogenetics. 27:176-182

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f0b81dfb750961189092bb59b48b526Test
https://doi.org/10.3109/01677063.2013.831094Test

7

Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution

المؤلفون: Hubert J.M. Smeets, G. Van Camp, B.J.C. van den Bosch, A.M. Voets, Angela Pyle, Alexandra T.M. Hendrickx, Alphons P. M. Stassen, Patrick F. Chinnery, Debby M.E.I. Hellebrekers, E. Van Eyken, L. Van Laer, Simon Baudouin

المساهمون: Klinische Genetica, Genetica & Celbiologie, RS: CARIM School for Cardiovascular Diseases, RS: GROW - School for Oncology and Reproduction

المصدر: Mitochondrion
Mitochondrion, 11(6), 964-972. ELSEVIER SCI LTD