المؤلفون: Hayley Goullée, Rhonda L. Taylor, Alistair R. R. Forrest, Nigel G. Laing, Gianina Ravenscroft, Joshua S. Clayton

المصدر: Skeletal Muscle, Vol 11, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: CRISPR, Gene editing efficiency, Primary human myoblasts, Matrigel, Confluency, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2044-5040

URL الوصول: https://doaj.org/article/e07e85873bf14f75bbfdad237f93213d

المؤلفون: Joshua S. Clayton, Elyshia L. McNamara, Hayley Goullee, Stefan Conijn, Keren Muthsam, Gabrielle C. Musk, David Coote, James Kijas, Alison C. Testa, Rhonda L. Taylor, Amanda J. O’Hara, David Groth, Coen Ottenheijm, Gianina Ravenscroft, Nigel G. Laing, Kristen J. Nowak

المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-14 (2020)

مصطلحات موضوعية: Congenital myopathy, Sheep model, Troponin T1, TNNT1, Splicing, Ca2+ sensitivity, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-020-01017-1; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/62c6f646f3804c82ae5565c706bb352a

المؤلفون: Jenni M. Laitila, Elyshia L. McNamara, Catherine D. Wingate, Hayley Goullee, Jacob A. Ross, Rhonda L. Taylor, Robbert van der Pijl, Lisa M. Griffiths, Rachel Harries, Gianina Ravenscroft, Joshua S. Clayton, Caroline Sewry, Michael W. Lawlor, Coen A. C. Ottenheijm, Anthony J. Bakker, Julien Ochala, Nigel G. Laing, Carina Wallgren-Pettersson, Katarina Pelin, Kristen J. Nowak

المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-19 (2020)

مصطلحات موضوعية: Nebulin, Murine model, Nemaline myopathy, Skeletal muscle, Neuromuscular disease, Congenital myopathy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-020-0893-1; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/091348b090194a35b6fa183d1b10a74b

المؤلفون: Macarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu Jokela, Mridul Johari, Thierry Capiod, Marine Madrange, Enrico Bugiardini, Stefen Brady, Rosaline Quinlivan, Ashirwad Merve, Renata Scalco, David Hilton-Jones, Henry Houlden, Halil Ibrahim Aydin, Serdar Ceylaner, Sarah Drewes, Jerry Vockley, Rhonda L Taylor, Chiara Folland, Aasta Kelly, Hayley Goullee, Emil Ylikallio, Mari Auranen, Henna Tyynismaa, Bjarne Udd, Alistair R R Forrest, Mark R Davis, Drago Bratkovic, Nicholas Manton, Thomas Robertson, Cullen O’Gorman, Pamela McCombe, Nigel G Laing, Liza Phillips, Pascale de Lonlay, Gianina Ravenscroft

المساهمون: Medicum, Department of Medical and Clinical Genetics, University of Helsinki, STEMM - Stem Cells and Metabolism Research Program, HUS Neurocenter, Neurologian yksikkö, Clinicum, Centre of Excellence in Stem Cell Metabolism, Research Programs Unit, Henna Tyynismaa / Principal Investigator, Neuroscience Center, Helsinki Institute of Life Science HiLIFE

مصطلحات موضوعية: myalgia, Adolescent, MUTATIONS, 3112 Neurosciences, Loss of Heterozygosity, LINE, Protein Serine-Threonine Kinases, MUSCLE, exercise intolerance, SARCOPLASMIC-RETICULUM, OBSCURIN, GENE, Rhabdomyolysis, MUSCULAR-DYSTROPHY, 3124 Neurology and psychiatry, Sarcoplasmic Reticulum, obscurin, ISOFORM, hyperCKaemia, rhabdomyolysis, Humans, Calcium, Neurology (clinical), Rho Guanine Nucleotide Exchange Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4bd1d51311f5e2b61ad26c923c76fc7
http://hdl.handle.net/10138/353498

المؤلفون: Nigel G. Laing, Mark R. Davis, Samantha Edwards, Phillipa J. Lamont, Sarah J. Beecroft, Hayley Goullee, Gianina Ravenscroft

المصدر: Molecular Diagnosis & Therapy. 24:641-652

مصطلحات موضوعية: 0301 basic medicine, Pharmacology, Neuromuscular disease, business.industry, Genetic counseling, General Medicine, Consanguinity, Disease, Computational biology, medicine.disease, Human genetics, DNA sequencing, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Genetics, Molecular Medicine, Medicine, business, Gene, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e7f464535d21243d54ee219d794a0c82
https://doi.org/10.1007/s40291-020-00495-2

المؤلفون: Conrad C. Weihl, Ana Töpf, Rocio Bengoechea, Jennifer Duff, Richard Charlton, Solange Kapetanovic Garcia, Cristina Domínguez-González, Abdulaziz Alsaman, Aurelio Hernández-Laín, Luis Varona Franco, Monica Elizabeth Ponce Sanchez, Sarah J. Beecroft, Hayley Goullee, Jil Daw, Ankan Bhadra, Heather True, Michio Inoue, Andrew R. Findlay, Nigel Laing, Montse Olivé, Gianina Ravenscroft, Volker Straub

المصدر: ACTA NEUROPATHOLOGICA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Acta Neuropathol

مصطلحات موضوعية: Congenital myopathy, Myopathy, Mutation, Missense, Myofibrillar myopathy, Chaperone, Article, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Mice, Muscular Diseases, Mutation, Animals, Neurology (clinical), Protein aggregation, Respiratory Insufficiency, Muscle, Skeletal, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::244a691706cb645a7b30177cc8485ecf
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13854

المؤلفون: Kristen J. Nowak, Elyshia McNamara, Joshua S. Clayton, Kimberley L. Dilworth, Gianina Ravenscroft, Tomàs Pinós, Ian E. Alexander, Nigel G. Laing, Astrid Brull, Leszek Lisowski, Rhonda L. Taylor, Hayley Goullee

المصدر: Human Molecular Genetics. 29:20-30

مصطلحات موضوعية: Male, medicine.medical_specialty, Genetic enhancement, Disease, Biology, Mice, 03 medical and health sciences, Glycogen phosphorylase, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Genetics, medicine, Animals, Muscle, Skeletal, Molecular Biology, Genetics (clinical), 030304 developmental biology, Inflammation, 0303 health sciences, Kidney, Glycogen, Myoglobinuria, Skeletal muscle, General Medicine, medicine.disease, Mice, Inbred C57BL, Disease Models, Animal, Endocrinology, medicine.anatomical_structure, chemistry, Glycogen Phosphorylase, Muscle Form, Glycogen Storage Disease Type V, Female, 030217 neurology & neurosurgery, Glycogen storage disease type V

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd1e0cbc83709b1b3436fffc4775b8fc
https://doi.org/10.1093/hmg/ddz214

المؤلفون: Mari Auranen, Rhonda L. Taylor, Alistair R. R. Forrest, Pamela A. McCombe, Phillips L, Nigel G. Laing, Cabrera-Serrano M, Thierry Capiod, Aydin H, Jerry Vockley, Caccavelli L, Nicholas Manton, Emil Ylikallio, Delonlay P, Drago Bratkovic, Manu Jokela, Mark M. Davis, Henry Houlden, Enrico Bugiardini, David Hilton-Jones, Madrange M, Ceylaner S, Mridul Johari, Hayley Goullee, Henna Tyynismaa, Robertson T, Bjarne Udd, A. Merve, Renata S Scalco, G. Ravenscroft, Ros Quinlivan, Marco Savarese, Anna Vihola, Brady S

مصطلحات موضوعية: 2. Zero hunger, myalgia, 0303 health sciences, business.industry, Cardiomyopathy, Obscurin, Disease, medicine.disease, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Immunology, medicine, medicine.symptom, First-degree relatives, business, Rhabdomyolysis, 030217 neurology & neurosurgery, Loss function, 030304 developmental biology, Muscle cramp

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3ea052c6e785ca108a71b895459d21c2
https://doi.org/10.1101/2021.06.04.447044

المؤلفون: Coen A.C. Ottenheijm, Rhonda L. Taylor, Keren Muthsam, Gianina Ravenscroft, Gabrielle C. Musk, David J. Coote, Alison C. Testa, David Groth, Kristen J. Nowak, Elyshia McNamara, Amanda J. O'Hara, Nigel G. Laing, Joshua S. Clayton, James Kijas, Stefan Conijn, Hayley Goullee

المساهمون: VU University medical center, ACS - Pulmonary hypertension & thrombosis, Physiology

المصدر: Acta neuropathologica communications, 8(1):142. BioMed Central
Clayton, J S, McNamara, E L, Goullee, H, Conijn, S, Muthsam, K, Musk, G C, Coote, D, Kijas, J, Testa, A C, Taylor, R L, O'Hara, A J, Groth, D, Ottenheijm, C A C, Ravenscroft, G, Laing, N G & Nowak, K J 2020, ' Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy ', Acta neuropathologica communications, vol. 8, no. 1, 142 . https://doi.org/10.1186/s40478-020-01017-1
Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-14 (2020)

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Neuromuscular disease, Myotonia Congenita, Sheep Diseases, Skeletal muscle, Sheep model, Biology, Splicing, OCPMD, lcsh:RC346-429, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Nemaline myopathy, Troponin T, Troponin T1, medicine, Animals, Muscular dystrophy, Muscle, Skeletal, Nemaline bodies, lcsh:Neurology. Diseases of the nervous system, 2. Zero hunger, Congenital myopathy, Sheep, Research, Intron, Dystrophy, medicine.disease, Ca2+ sensitivity, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, TNNT1, Neurology (clinical), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38bec9e6070ea9564e55b260c8368114
https://research.vumc.nl/en/publications/0b321e4e-2c3a-4696-8c29-65820a916d08

المؤلفون: David J. Coote, Erik Andersen, Masaaki Komatsu, Andrew J. Kornberg, Mark R. Davis, Gianina Ravenscroft, Macarena Cabrera-Serrano, Catriona McLean, Nigel G. Laing, Dimitar N. Azmanov, Ryosuke Ishimura, Hayley Goullee, Zornitza Stark, Jean-Michel Vallat, Monique M. Ryan

المساهمون: Instituto de Salud Carlos III, Junta de Andalucía, National Health and Medical Research Council (Australia), Japan Society for the Promotion of Science, Takeda Science Foundation

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Central Nervous System, Male, 0301 basic medicine, Ataxia, Movement disorders, Genetic Linkage, rare disease, Ubiquitin-Activating Enzymes, Consanguinity, Nervous System Malformations, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, UBA5, ufmylation, Genetic linkage, Intellectual Disability, Genetics, Humans, Medicine, Peripheral Nerves, Genetics (clinical), Exome sequencing, Mutation, Epilepsy, Movement Disorders, peripheral nerve disease, business.industry, Homozygote, HEK 293 cells, Infant, Proteins, medicine.disease, Pedigree, HEK293 Cells, 030104 developmental biology, Peripheral neuropathy, Gene Expression Regulation, Immunology, Female, CRISPR-Cas Systems, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a4f69f7c66d26893a38323ea8a87aa5
http://hdl.handle.net/10261/237196