المؤلفون: Schon, Katherine R, O'Donovan, Dominic G, Briggs, Mayen, Rowe, James B, Wijesekera, Lokesh, Chinnery, Patrick F, van den Ameele, Jelle

مصطلحات موضوعية: McLeod syndrome, XK gene, autopsy, raised CK

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/352882Test; https://doi.org/10.17863/CAM.99075Test

الإتاحة: https://doi.org/10.17863/CAM.99075Test
https://www.repository.cam.ac.uk/handle/1810/352882Test

المؤلفون: Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Schon, Katherine R, Frezatti, Rodrigo SS, Raga, Sharika, Naidu, Kireshnee, Köken, Özlem Yayıcı, Polat, Ipek, Kapapa, Musambo M, Dominik, Natalia, Efthymiou, Stephanie, Morsy, Heba, Nel, Melissa, Fassad, Mahmoud R, Gao, Fei, Patel, Krutik, Schoonen, Maryke, Bisschoff, Michelle, Vorster, Armand, Jonvik, Hallgeir, Human, Ronel, Lubbe, Elsa, Nonyane, Malebo, Vengalil, Seena, Nashi, Saraswati, Srivastava, Kosha, Lemmers, Richard JLF, Reyaz, Alisha, Mishra, Rinkle, Töpf, Ana, Trainor, Christina I, Steyn, Elizabeth C, Mahungu, Amokelani C, van der Vliet, Patrick J, Ceylan, Ahmet Cevdet, Hiz, A Semra, Çavdarlı, Büşranur, Semerci Gündüz, C Nur, Ceylan, Gülay Güleç, Nagappa, Madhu, Tallapaka, Karthik B, Govindaraj, Periyasamy, van der Maarel, Silvère M, Narayanappa, Gayathri, Nandeesh, Bevinahalli N, Wa Somwe, Somwe, Bearden, David R, Kvalsund, Michelle P, Ramdharry, Gita M, Oktay, Yavuz, Yiş, Uluç, Topaloğlu, Haluk, Sarkozy, Anna, Bugiardini, Enrico, Henning, Franclo, Wilmshurst, Jo M, Heckmann, Jeannine M, McFarland, Robert, Taylor, Robert W, Smuts, Izelle, van der Westhuizen, Francois H, Sobreira, Claudia Ferreira da Rosa, Tomaselli, Pedro J, Marques, Wilson, Bhatia, Rohit, Dalal, Ashwin, Srivastava, MV Padma, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert DS, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G

المصدر: Brain , Article awad254. (2023) (In press).

مصطلحات موضوعية: Genomic medicine, inherited neuromuscular disease, capacity building, low-to-middle income country, equality and diversity

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181002/1/awad254.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181002Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10181002/1/awad254.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10181002Test/

المؤلفون: Schon, Katherine R., O'Donovan, Dominic G., Briggs, Mayen, Rowe, James B., Wijesekera, Lokesh, Chinnery, Patrick F., van den Ameele, Jelle

المساهمون: Medical Research Council, National Institute for Health and Care Research, Wellcome Trust

المصدر: Neuropathology ; volume 44, issue 2, page 109-114 ; ISSN 0919-6544 1440-1789

الإتاحة: https://doi.org/10.1111/neup.12935Test

المؤلفون: Schon, Katherine R.^1,2,3 (AUTHOR) ks339@cam.ac.uk, O'Donovan, Dominic G.⁴ (AUTHOR), Briggs, Mayen^1,4 (AUTHOR), Rowe, James B.¹ (AUTHOR), Wijesekera, Lokesh⁵ (AUTHOR), Chinnery, Patrick F.^1,2 (AUTHOR), van den Ameele, Jelle^1,2 (AUTHOR) jv361@cam.ac.uk

المصدر: Neuropathology. Apr2024, Vol. 44 Issue 2, p109-114. 6p.

مصطلحات موضوعية: *REFLEXES, *X chromosome, *ALZHEIMER'S disease, *PATHOLOGY, *MAGNETIC resonance imaging, *BASAL ganglia, *SYNDROMES

المؤلفون: Wei, Wei, Schon, Katherine R, Elgar, Greg, Orioli, Andrea, Tanguy, Melanie, Giess, Adam, Tischkowitz, Marc, Caulfield, Mark J, Chinnery, Patrick F

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/340537Test

الإتاحة: https://doi.org/10.17863/CAM.87977Test
https://www.repository.cam.ac.uk/handle/1810/340537Test

المؤلفون: Schon, Katherine R, Chinnery, Patrick F

مصطلحات موضوعية: genetics, mitochondrial disorders, neurogenetics, Humans, Mitochondrial Diseases, Whole Genome Sequencing, Sequence Analysis, DNA

وصف الملف: application/octet-stream

العلاقة: https://www.repository.cam.ac.uk/handle/1810/341206Test

الإتاحة: https://doi.org/10.17863/CAM.88631Test
https://www.repository.cam.ac.uk/handle/1810/341206Test

المؤلفون: Ratnaike, Thiloka E, Greene, Daniel, Wei, Wei, Sanchis-Juan, Alba, Schon, Katherine R, van den Ameele, Jelle, Raymond, Lucy, Horvath, Rita, Turro, Ernest, Chinnery, Patrick F

المساهمون: National Institute for Health Research, Addenbrooke's Charitable Trust, Medical Research Council, Wellcome, Medical Research Council Mitochondrial Biology Unit, European Research Council, Newton Fund, Evelyn Trust, Lily/Stoneygate Foundation, International Centre for Genomic Medicine in Neuromuscular Diseases, Wellcome Trust, Leverhulme Trust, MRC, Alzheimer's Society, NIHR Cambridge Biomedical Research Centre

المصدر: Nucleic Acids Research ; volume 49, issue 17, page 9686-9695 ; ISSN 0305-1048 1362-4962

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1093/nar/gkab726Test
http://academic.oup.com/nar/article-pdf/49/17/9686/40439153/gkab726.pdfTest

المؤلفون: Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman(, Shamima, Chinnery, Patrick F

المساهمون: University of Cambridge, Alzheimer's Society, Leverhulme Trust, National Institute for Health Research, Department of Health, Evelyn Trust, Wellcome Trust, Medical Research Council

المصدر: BMJ ; page e066288 ; ISSN 1756-1833

الإتاحة: https://doi.org/10.1136/bmj-2021-066288Test

المؤلفون: Schon, Katherine R, Ratnaike, Thiloka, van den Ameele, Jelle, Horvath, Rita, Chinnery, Patrick F

مصطلحات موضوعية: genetic diagnosis, mitochondrial disease, molecular diagnostics, mtDNA mutation, whole-genome sequencing, DNA, Mitochondrial, Genome, Humans, Mitochondrial Diseases, Mutation, Whole Genome Sequencing

وصف الملف: Print-Electronic; application/vnd.openxmlformats-officedocument.wordprocessingml.document

العلاقة: https://www.repository.cam.ac.uk/handle/1810/307203Test

الإتاحة: https://doi.org/10.17863/CAM.54300Test
https://www.repository.cam.ac.uk/handle/1810/307203Test

المؤلفون: Schon, Katherine R.^1,2, Chinnery, Patrick F.^3,4 pfc25@cam.ac.uk

المصدر: Practical Neurology. Feb2023, Vol. 23 Issue 1, p2-3. 3p.

مصطلحات موضوعية: *DNA analysis, *SEQUENCE analysis, *MITOCHONDRIAL pathology, *SERIAL publications, *GENETIC testing, *GENOMICS, *GENOMES