المؤلفون: Karaa, Amel, Bertini, Enrico, Carelli, Valerio, Cohen, Bruce H., Enns, Gregory M., Falk, Marni J., Goldstein, Amy, Gorman, Gráinne Siobhan, Haas, Richard, Hirano, Michio, Klopstock, Thomas, Koenig, Mary Kay, Kornblum, Cornelia, Lamperti, Costanza, Lehman, Anna, Longo, Nicola, Molnar, Maria Judit, Parikh, Sumit, Phan, Han, Pitceathly, Robert D.S., Saneto, Russell, Scaglia, Fernando, Servidei, Serenella, Tarnopolsky, Mark, Toscano, Antonio, Van Hove, Johan L.K., Vissing, John, Vockley, Jerry, Finman, Jeffrey S., Brown, David A., Shiffer, James A., Mancuso, Michelango, Lucia, Valentino Maria, Alessandro, Primiano Guido, Cristina, Sancricca, Zoltan, Grosz, Bathori, Györgyi, Daria, Diodato, Gessica, Vasco, Claudia, Soler-Alfonso, Ali, Abdullhameed May, Michael G, Hanna, Enrico, Bugiardini, Olivia V, Poole, Fran, Kendall, A, Larson, Ajantha, Nithi, Kristin, Engelstad, Andre, Mattman, Michelle, Mezei

المصدر: Neurology ; volume 101, issue 3 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000207402
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000207402

المؤلفون: Enrico Bugiardini, Simon Pope, René G. Feichtinger, Olivia V. Poole, Alan M. Pittman, Cathy E. Woodward, Simon Heales, Rosaline Quinlivan, Henry Houlden, Johannes A. Mayr, Michael G. Hanna, Robert D.S. Pitceathly

المصدر: Journal of Clinical Medicine; Volume 8; Issue 7; Pages: 991

مصطلحات موضوعية: mitochondrial diseases, TPK1, thiamine pyrophosphate, Leigh syndrome, thiamine deficiency

وصف الملف: application/pdf

Relation: Immunology; https://dx.doi.org/10.3390/jcm8070991

الاتاحة: https://doi.org/10.3390/jcm8070991

المؤلفون: Damian Kozyra, Michael G. Hanna, Sami Amawi, Olivia V. Poole, Allan H. Young, N. James, Alessandro Colasanti, I Skorupinska, Rosaline Quinlivan, L. Germain, Robert D S Pitceathly, M Skorupinska, Sarah J. Holmes, Enrico Bugiardini, Cathy E. Woodward

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 91:892-894

مصطلحات موضوعية: Male, medicine.medical_specialty, Bipolar Disorder, Mitochondrial Diseases, Population, 03 medical and health sciences, 0302 clinical medicine, Surveys and Questionnaires, Internal medicine, Humans, Medicine, education, Major depressive episode, Psychiatric Status Rating Scales, education.field_of_study, business.industry, Mood Disorder Questionnaire, Middle Aged, medicine.disease, Comorbidity, Psychiatry and Mental health, Cross-Sectional Studies, Hypomania, Mood, Mood disorders, Female, Surgery, Neurology (clinical), medicine.symptom, business, Mania, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f164a4f991aa84b588f83a13c152f0ef
https://doi.org/10.1136/jnnp-2020-323632

المؤلفون: Enrico Bugiardini, Cathy E. Woodward, Amanda Lam, Robert D S Pitceathly, Michael G. Hanna, Sonia Gandhi, Olivia V. Poole, Ros Quinlivan, Chris M. Everett, Silvia Marino

المصدر: Mitochondrion. 47:294-297

مصطلحات موضوعية: Adult, 0301 basic medicine, Muscle tissue, Pathology, medicine.medical_specialty, Mitochondrial DNA, Mitochondrial disease, Encephalopathy, Biology, Electron Transport Complex IV, 03 medical and health sciences, 0302 clinical medicine, Optic Atrophies, Hereditary, Basal ganglia, medicine, Humans, Cytochrome c oxidase, Molecular Biology, Cell Biology, medicine.disease, Hyperintensity, 030104 developmental biology, medicine.anatomical_structure, Codon, Terminator, biology.protein, Molecular Medicine, Female, Brainstem, Leigh Disease, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f6917554b927dd9b411daed735987e3
https://doi.org/10.1016/j.mito.2019.02.004

المؤلفون: Enrico Bugiardini, C Woodward, M Skorupinska, S. Holmes, Damian Kozyra, L. Germain, N. James, I. Skorupinska, Robert D S Pitceathly, T. Uchiyama, Olivia V. Poole, Anton Emmanuel, Jalesh N. Panicker, Michael G. Hanna, Ros Quinlivan

المصدر: European Journal of Neurology

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Mitochondrial DNA, Mitochondrial Diseases, Mitochondrial disease, Subgroup analysis, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Lower Urinary Tract Symptoms, Lower urinary tract symptoms, Internal medicine, Surveys and Questionnaires, Medicine, Humans, 030212 general & internal medicine, urogenital symptoms, business.industry, Genitourinary system, lower gastrointestinal tract symptoms, Original Articles, Middle Aged, medicine.disease, 3. Good health, mitochondrial disease, Sexual dysfunction, Neurology, Overactive bladder, sexual dysfunction, Case-Control Studies, Quality of Life, Original Article, bowel symptoms, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, bladder symptoms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cb5376aa98c1865fa36276632f37a61
http://europepmc.org/articles/PMC6767393

المؤلفون: Micol Falabella, Luis Carlos Tabara, Olivia V. Poole, Takashi Tatsuta, Shanti Lu, Cathy E. Woodward, Robyn Labrum, Channa Hewamadduma, Erika Fernandez-Vizarra, Thomas Langer, Jan-Willem Taanman, Michael G. Hanna, Julien Prudent, Antonella Spinazzola, Robert D.S. Pitceathly

المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1863:148844

مصطلحات موضوعية: Biophysics, Cell Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::daf59cd2e722a84893f6611f7fecab79
https://doi.org/10.1016/j.bbabio.2022.148844

المؤلفون: Alessandro Colasanti, Enrico Bugiardini, Sami Amawi, Olivia V Poole, Iwona Skorupinska, Mariola Skorupinska, Louise Germain, Damian Kozyra, Sarah Holmes, Natalie James, Cathy E Woodward, Rosaline Quinlivan, Allan H Young, Michael G Hanna, Robert D S Pitceathly

مصطلحات موضوعية: mitochondrial disorders, psychiatry

Relation: 10779/uos.23479745.v1; https://figshare.com/articles/journal_contribution/_Letter_Primary_mitochondrial_diseases_increase_susceptibility_to_bipolar_affective_disorder/23479745

الاتاحة: https://figshare.com/articles/journal_contribution/_Letter_Primary_mitochondrial_diseases_increase_susceptibility_to_bipolar_affective_disorder/23479745

المؤلفون: Alejandro Horga, Amanda Lam, Rosaline Quinlivan, Kerrie Venner, Enrico Bugiardini, Eleonora Lamantea, Massimo Zeviani, Janice L. Holton, Cathy E. Woodward, Alessandra Valerio, Iain P. Hargreaves, Annapurna Chalasani, Silvia Marchet, Robert D S Pitceathly, Costanza Lamperti, Cristiane Benincá, Emanuela Bottani, Olivia V. Poole, Michael G. Hanna, Henry Houlden

المصدر: Neurology: Genetics

مصطلحات موضوعية: Mitochondrial encephalomyopathy, RM, Ataxia, Mitochondrial disease, Biology, Article, RS, Electron Transport Complex IV, 03 medical and health sciences, QH301, 0302 clinical medicine, medicine, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Cerebellar ataxia, Leukodystrophy, medicine.disease, Molecular biology, 3. Good health, QR, Mitochondria, Transplantation, MT-ATP6, Mutation, biology.protein, Electron Transport Complex IV, Mitochondria, Mutation, Myoclonic epilepsy, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ec96f2c97b9ff9f76378f8f5ca25d58
http://hdl.handle.net/11577/3354164

المؤلفون: Sarah, Holmes, Amanda J, Male, Gita, Ramdharry, Cathy, Woodward, Natalie, James, Iwona, Skorupinska, Mariola, Skorupinska, Louise, Germain, Damian, Kozyra, Enrico, Bugiardini, Olivia V, Poole, Ros, Quinlivan, Michael G, Hanna, Diego, Kaski, Robert D S, Pitceathly

المصدر: Journal of Neurology, Neurosurgery, and Psychiatry

مصطلحات موضوعية: Adult, Male, vertigo, Mitochondrial Diseases, Vestibular Diseases, Humans, Female, Middle Aged, PostScript, neurootology, Aged, rehabilitation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::60744eb91a2a6143fac259d4e0d39d4e
https://pubmed.ncbi.nlm.nih.gov/30478136

المؤلفون: A. Pittmann, Olivia V. Poole, H Houlden, Enrico Bugiardini, M. Menunni, Antonella Spinazzola, I. Dalla Rosa, Ian Holt, Michael G. Hanna, R.D.S. Pitceathly, Rosaline Quinlivan, Alice Mitchell, J.L. Holton

المصدر: Neuromuscular Disorders. 28:S30-S31

مصطلحات موضوعية: Genetics, Mitochondrial encephalomyopathy, Neurology, Partial agenesis, Ribosomal protein, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Ribosomal RNA, Biology, medicine.disease, Corpus callosum, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::17a82617aac6dcb945f55ead0e575400
https://doi.org/10.1016/s0960-8966(18)30381-x

المؤلفون: N. James, Michael G. Hanna, Olivia V. Poole, A. Male, Gita Ramdharry, Enrico Bugiardini, Sarah J. Holmes, Rosaline Quinlivan

المصدر: Neuromuscular Disorders. 27:S22-S23

مصطلحات موضوعية: Service (business), Vestibular system, medicine.medical_specialty, business.industry, Incidence (epidemiology), Mitochondrial disease, medicine.disease, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, Physical therapy, medicine, Neurology (clinical), business, Genetics (clinical), Balance (ability)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8fea7825a56a722501a98575e3911b5c
https://doi.org/10.1016/s0960-8966(17)30284-5

المؤلفون: Enrico Bugiardini, Cathy E. Woodward, R.D.S. Pitceathly, Alan M. Pittman, Michael G. Hanna, J. Hardy, H Houlden, Olivia V. Poole, D. Murphy

المصدر: Neuromuscular Disorders. 28:S33

مصطلحات موضوعية: Mitochondrial DNA, Data sequences, Neurology, Pediatrics, Perinatology and Child Health, Square (cipher), Neurology (clinical), Computational biology, Biology, Genetics (clinical), Queen (playing card)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::809ae15561df32c211d3c1e01deb856a
https://doi.org/10.1016/s0960-8966(18)30389-4

المؤلفون: Olivia V, Poole, Michael G, Hanna, Robert D S, Pitceathly

المصدر: Discovery medicine. 20(111)

مصطلحات موضوعية: Mitochondrial Proteins, Mitochondrial Diseases, Genome, Human, Genome, Mitochondrial, Humans

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::166cc5aafbd1f2219b9767157e5ae1c1
https://pubmed.ncbi.nlm.nih.gov/26645904

المؤلفون: Olivia V. Poole, Enrico Bugiardini, I Skorupinska, R.D.S. Pitceathly, Michael G. Hanna, Y.S. Ng, Alejandro Horga, Robert McFarland, Douglass M. Turnbull

المصدر: Neuromuscular Disorders. 27:S19

مصطلحات موضوعية: medicine.medical_specialty, Neurology, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, Cohort, Medicine, Neurology (clinical), business, Genetics (clinical), Cause of death

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d86f9941fca0ff94fb58f4a7dccd8aaf
https://doi.org/10.1016/s0960-8966(17)30272-9

المؤلفون: R.D.S. Pitceathly, Michael G. Hanna, Anton Emmanuel, Jalesh N. Panicker, Olivia V. Poole

المصدر: Neuromuscular Disorders. 27:S22

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Pelvic organ, Neurology, business.industry, Mitochondrial disease, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, medicine.disease, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c21a874c7dc436347aa07e9a4bcd3248
https://doi.org/10.1016/s0960-8966(17)30282-1

المؤلفون: Alan M. Pittman, S. J. R. Heales, R.D.S. Pitceathly, Mary G. Sweeney, Michael G. Hanna, Enrico Bugiardini, Cathy E. Woodward, Olivia V. Poole, H Houlden

المصدر: Neuromuscular Disorders. 27:S23

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3ebcd66ee6ec5d65ad4db7768dd76f9b
https://doi.org/10.1016/s0960-8966(17)30285-7

المؤلفون: Henry Houlden, Ian Holt, Enrico Bugiardini, Hue-Tran Horning-Do, Alexey Amunts, Janice L. Holton, Cathy E. Woodward, Alice L Mitchell, Sachit Shah, Michael G. Hanna, Rosaline Quinlivan, Rudolf J. Wiesner, Alan M Pitmann, Antonella Spinazzola, Robert D S Pitceathly, Ilaria Dalla Rosa, Olivia V. Poole, Iain P. Hargreaves

المصدر: Human Molecular Genetics

مصطلحات موضوعية: Adult, Male, Ribosomal Proteins, RM, Mitochondrial translation, Mitochondrial disease, Protein subunit, Respiratory chain, Biology, Mitochondrion, Ribosome, Models, Biological, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Mitochondrial myopathy, Mitochondrial Encephalomyopathies, Exome Sequencing, Genetics, medicine, Mitochondrial ribosome, Humans, Genetic Predisposition to Disease, Molecular Biology, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Homozygote, General Medicine, Fibroblasts, medicine.disease, Magnetic Resonance Imaging, Mitochondria, Pedigree, Phenotype, Protein Biosynthesis, Mutation, General Article, 030217 neurology & neurosurgery, Biomarkers

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62b4cd36ca2d1a1d119ca863faac8c23
https://researchonline.ljmu.ac.uk/id/eprint/11032/1/enrico.pdf

المؤلفون: Enrico Bugiardini, Cathy E. Woodward, Iain P. Hargreaves, Olivia V. Poole, Robert D S Pitceathly, Robert W. Taylor, Steven A. Hardy, Rosaline Quinlivan, Michael G. Hanna, Ashirwad Merve, Alejandro Horga

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mitochondrial DNA, RM, Mitochondrial disease, Gene mutation, Biology, medicine.disease, Pathogenicity, R1, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Transfer RNA, medicine, Neurology (clinical), Gene, QH426, 030217 neurology & neurosurgery, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b942c087e031c2113f683822be1ea717