المؤلفون: Andrew R. Findlay, May M. Paing, Jil A. Daw, Meade Haller, Rocio Bengoechea, Sara K. Pittman, Shan Li, Feng Wang, Timothy M. Miller, Heather L. True, Tsui-Fen Chou, Conrad C. Weihl

المصدر: Molecular Therapy: Nucleic Acids, Vol 32, Iss , Pp 937-948 (2023)

مصطلحات موضوعية: MT: Oligonucleotides: Therapies and Applications, limb girdle muscular dystrophy D1 (LGMDD1), DNAJB6, isoform specific knockdown, morpholino, proteomics, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S216225312300135X; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/98875bfcbb0241d7a450adbfdbc2b0b5

المؤلفون: Andrew R. Findlay, Sarah E. Robinson, Stephanie Poelker, Michelle Seiffert, Rocio Bengoechea, Conrad C. Weihl

المصدر: Annals of Clinical and Translational Neurology, Vol 10, Iss 2, Pp 181-194 (2023)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/df6f0a45ecd440df9b017670faeb1e15

المؤلفون: Melanie Meister-Broekema, Rebecca Freilich, Chandhuru Jagadeesan, Jennifer N. Rauch, Rocio Bengoechea, William W. Motley, E. F. Elsiena Kuiper, Melania Minoia, Gabriel V. Furtado, Maria A. W. H. van Waarde, Shawn J. Bird, Adriana Rebelo, Stephan Zuchner, Peter Pytel, Steven S. Scherer, Federica F. Morelli, Serena Carra, Conrad C. Weihl, Steven Bergink, Jason E. Gestwicki, Harm H. Kampinga

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/ddf05b7beeda41dab42d91cc0f57bb70

المؤلفون: João Paulo Tavanez, Rocio Bengoechea, Maria T Berciano, Miguel Lafarga, Maria Carmo-Fonseca, Francisco J Enguita

المصدر: PLoS ONE, Vol 4, Iss 7, p e6418 (2009)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2712759?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/e9596f8e4200445da3e8105d9a03841f

المؤلفون: Andrew R. Findlay, Sarah E. Robinson, Stephanie Poelker, Michelle Seiffert, Rocio Bengoechea, Conrad C. Weihl

المصدر: Annals of Clinical and Translational Neurology. 10:181-194

مصطلحات موضوعية: General Neuroscience, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c731bc9b501151a6c54b041868b3e171
https://doi.org/10.1002/acn3.51709

المؤلفون: Andrew R. Findlay, May M. Paing, Jil A. Daw, Rocio Bengoechea, Sara K. Pittman, Shan Li, Feng Wang, Timothy M. Miller, Heather L. True, Tsui-Fen Chou, Conrad C. Weihl

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::456b308c6f7fd816e0e1cc8af0a89474
https://doi.org/10.1101/2022.11.17.516920

المؤلفون: Michio Inoue, Satoru Noguchi, Yukiko U. Inoue, Aritoshi Iida, Megumu Ogawa, Rocio Bengoechea, Sara K. Pittman, Shinichiro Hayashi, Kazuki Watanabe, Yasushi Hosoi, Terunori Sano, Masaki Takao, Yasushi Oya, Yuji Takahashi, Hiroaki Miyajima, Conrad C. Weihl, Takayoshi Inoue, Ichizo Nishino

المصدر: Acta neuropathologica.

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91462aaee409ca3a9d3935867f6d9fb6
https://pubmed.ncbi.nlm.nih.gov/36512060

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: Satoru Noguchi, Marion Masingue, Emilia Kerty, Conrad C. Weihl, Anna Vihola, Montse Olivé, Per Harald Jonson, Manu Jokela, Peter Hackman, Ichizo Nishino, Bjarne Udd, Rocio Bengoechea, Michio Inoue, Marco Savarese, Johanna Palmio, Masanori Nakagawa, Jaakko Sarparanta

المساهمون: Department of Medical and Clinical Genetics, University of Helsinki, Medicum, Genetics, Biosciences

المصدر: Neuromuscul Disord

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, DNAJB6 gene, PROTEIN, Nerve Tissue Proteins, Biology, Article, 3124 Neurology and psychiatry, 03 medical and health sciences, symbols.namesake, HUNTINGTIN, 0302 clinical medicine, Chaperonopathy, medicine, Humans, Myopathy, Gene, Genetics (clinical), Aged, Aged, 80 and over, CHAPERONE, Sanger sequencing, Muscle biopsy, medicine.diagnostic_test, 3112 Neurosciences, HSP40 Heat-Shock Proteins, Middle Aged, AGGREGATION, Molecular biology, Pedigree, 3. Good health, Distal Myopathies, MODEL, 030104 developmental biology, Neurology, I-TASSER, Pediatrics, Perinatology and Child Health, symbols, MRJ, Female, Limb-girdle muscular dystrophy, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1575046a5e987f7d8d23feee1d7272c0
https://doi.org/10.1016/j.nmd.2019.11.005

المؤلفون: Ankan K. Bhadra, Hao Shao, Kevin C. Stein, Sara K. Pittman, Rocio Bengoechea, Jil A. Wright Daw, Heather L. True, Conrad C. Weihl, Andrew R. Findlay, Jason E. Gestwicki

المصدر: J Clin Invest
The Journal of clinical investigation, vol 130, iss 8

مصطلحات موضوعية: 0301 basic medicine, Mutant, Sarcoplasm, Skeletal muscle, Protein aggregation, Medical and Health Sciences, Muscular Dystrophies, Limb-Girdle, Mice, 0302 clinical medicine, Chaperones, 2.1 Biological and endogenous factors, Muscular Dystrophy, Aetiology, Muscular dystrophy, Chemistry, General Medicine, Cell biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Gain of Function Mutation, Protein folding, Protein misfolding, Research Article, Intellectual and Developmental Disabilities (IDD), Immunology, Nerve Tissue Proteins, Saccharomyces cerevisiae, 03 medical and health sciences, Rare Diseases, Genetics, medicine, Animals, Humans, HSP70 Heat-Shock Proteins, Muscle Strength, Animal, Cell Biology, HSP40 Heat-Shock Proteins, medicine.disease, Brain Disorders, Hsp70, Disease Models, Animal, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Cell culture, Hela Cells, Musculoskeletal, Disease Models, Muscle Biology, Limb-girdle muscular dystrophy, HeLa Cells, Molecular Chaperones

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::beb16b18d69eebb54fb9420377ac5b66
https://pubmed.ncbi.nlm.nih.gov/32427588