المؤلفون: Menelaos, Pipis, Seongsik, Won, Roy, Poh, James, Polke, Mariola, Skorupinska, Julian, Blake, Alexander, Rossor, Matilde, Laura, John, Svaren, Mary, Reilly

المصدر: Association of British Neurologists: Annual Meeting Abstracts 2023

الإتاحة: https://doi.org/10.1136/jnnp-2023-abn.246Test

المؤلفون: Christopher, Record, Harri, Sivasathiaseelan, Julian, Blake, David, Gosal, Tim, Lavin, Zane, Jaunmuktane, Sebastian, Brandner, Michael, Lunn, Mary, Reilly

المصدر: Association of British Neurologists: Annual Meeting Abstracts 2023

الإتاحة: https://doi.org/10.1136/jnnp-2023-abn.275Test

المؤلفون: Saif, Haddad, Mariola, Skorupinska, Alex, Rossor, Matilde, Laura, Julian, Blake, Michael, Lunn, Mary, Reilly

المصدر: Association of British Neurologists: Annual Meeting Abstracts 2023

الإتاحة: https://doi.org/10.1136/jnnp-2023-abn.272Test

المؤلفون: Antonia S Carroll, Carolynne M Doherty, Julian Blake, Stephen J Hunt, Chandrashekar Hoskote, Feargal McNicholl, Rahul Phadke, Oonagh Sheehy, Fion D Bremner, Shirley D'Sa, Christopher McNamara, Mary M Reilly

المصدر: Practical Neurology. 22:396-406

مصطلحات موضوعية: Neurology (clinical), General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71561462116109d4c075bf399450069aTest
https://doi.org/10.1136/practneurol-2022-003398Test

المؤلفون: Luke Francis O'Donnell, Andrea Cortese, Alexander M Rossor, Matilde Laura, Julian Blake, Mariola Skorupinska, Michael P Lunn, John S Thornton, Riccardo Currò, Jasper M Morrow, Mary M Reilly

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 94:88-90

مصطلحات موضوعية: Psychiatry and Mental health, Surgery, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8c12a21e92569172a9beddba0e69e8fTest
https://doi.org/10.1136/jnnp-2022-329432Test

المؤلفون: Christopher J Record, Menelaos Pipis, Julian Blake, Riccardo Curro, Michael P Lunn, Alexander M Rossor, Matilde Laura, Andrea Cortese, Mary M Reilly

المصدر: Journal of the peripheral nervous system : JPNS. 27(2)

مصطلحات موضوعية: Upper Extremity, General Neuroscience, Mutation, Humans, Peripheral Nervous System Diseases, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48082a10ec26d066cec4d3aae0ed7eb2Test
https://pubmed.ncbi.nlm.nih.gov/35224818Test

المؤلفون: Alexander M. Rossor, Matt Parton, David S. Lynch, Michael G. Hanna, Enrico Bugiardini, Qiang Gang, Andrea Cortese, Jasper M. Morrow, Lucy Feng, Ros Quinlivan, Janice L. Holton, Aisling Carr, Alaa Khan, Alan Pittman, Mary M. Reilly, Rahul Phadke, Chris Turner, Julian Blake, Henry Houlden, Emma Matthews

المصدر: Neuromuscular Disorders. 29:747-757

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Muscle Proteins, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Gene panel, Humans, Medicine, Medical diagnosis, Myopathy, Pathological, Genetics (clinical), Exome sequencing, Aged, Aged, 80 and over, Genetic heterogeneity, business.industry, High-Throughput Nucleotide Sequencing, Middle Aged, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Cohort, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd494884029593d73f0691f5b456ed92Test
https://doi.org/10.1016/j.nmd.2019.08.003Test

المؤلفون: M Skorupinska, Guilhem Solé, Philippe Latour, Mary M. Reilly, Andrea Cortese, Tanya Stojkovic, Sachit Shah, Ki Wha Chung, Raul Juntas-Morales, Jana Vandrovcova, Byung-Ok Choi, Menelaos Pipis, Roy Poh, James M. Polke, Philippe Petiot, Matilde Laura, Alexander M. Rossor, Yves Fromes, Julian Blake, Arnaud Jacquier

المساهمون: UCL, Institute of Neurology [London], Università degli Studi di Pavia = University of Pavia (UNIPV), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hospices Civils de Lyon (HCL), CHU de Bordeaux Pellegrin [Bordeaux], Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Résonance Magnétique Nucléaire (LRMN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Norwich University, Samsung Medical Center Sungkyunkwan University School of Medicine, Institute Division of Hematology/Oncology, Kongju National University, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), University of Pavia, Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Centre de référence des maladies rares neuromusculaires, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche en Myologie, Centre de référence des maladies rares neuromusculaires [CHU Pitié-Salpétriêre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), HAL-SU, Gestionnaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)

المصدر: Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩

مصطلحات موضوعية: Weakness, Neurogenetics, Context (language use), Disease, Bioinformatics, Asymptomatic, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, medicine, neurogenetics, 030304 developmental biology, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Spinal muscular atrophy, HMSN (Charcot-Marie-Tooth), medicine.disease, Psychiatry and Mental health, Surgery, neuropathy, Neurology (clinical), neuromuscular, medicine.symptom, Age of onset, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d319da7afd60ea990d61bdd8ccdc0deeTest
https://hal.sorbonne-universite.fr/hal-03353031/file/jnnp-2021-327186.full.pdfTest

المؤلفون: Rosalind H.M. King, David Chandler, Sash Lopaticki, Dexing Huang, Julian Blake, John R. Muddle, Trevor Kilpatrick, Michelle Nourallah, Toshiyuki Miyata, Tomohiko Okuda, Kim W. Carter, Michael Hunter, Dora Angelicheva, Grant Morahan, Luba Kalaydjieva

المصدر: Neurobiology of Disease, Vol 42, Iss 3, Pp 368-380 (2011)

مصطلحات موضوعية: CMT4D, Mouse, Demyelination, Peripheral nerve, Gene expression, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996111000519Test; https://doaj.org/toc/1095-953XTest

الوصول الحر: https://doaj.org/article/025929e759604c54813529023ccc2f1aTest

المؤلفون: Menelaos, Pipis, Andrea, Cortese, James M, Polke, Roy, Poh, Jana, Vandrovcova, Matilde, Laura, Mariola, Skorupinska, Arnaud, Jacquier, Raul, Juntas-Morales, Philippe, Latour, Philippe, Petiot, Guilhem, Sole, Yves, Fromes, Sachit, Shah, Julian, Blake, Byung-Ok, Choi, Ki Wha, Chung, Tanya, Stojkovic, Alexander M, Rossor, Mary M, Reilly

المصدر: Journal of neurology, neurosurgery, and psychiatry. 93(1)

مصطلحات موضوعية: Adult, Male, Neurons, Heterozygote, Genotype, Intermediate Filaments, Exons, Middle Aged, Magnetic Resonance Imaging, Pedigree, Young Adult, Phenotype, Sural Nerve, Charcot-Marie-Tooth Disease, Neurofilament Proteins, Mutation, Humans, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::b6314bf96300301ac4d50a4c6aece36aTest
https://pubmed.ncbi.nlm.nih.gov/34518332Test