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1
المؤلفون: M. Henderson, Wojtek Rakowicz, Silvia Marino, Curtis Offiah, Anna Sarkozy, Hanns Lochmüller, Simon Hammans, Marta Bertoli, Adnan Y. Manzur, Lucy Feng, Silvia Torelli, Francesco Muntoni, Tracey Willis, Chiara Marini-Bettolo, Fiona Norwood, Volker Straub, Rita Barresi, Maria Elena Farrugia, David Beeson, Maria Sframeli, Pierpaolo Ala, Elizabeth Wraige, Rahul Phadke, Aleksandar Radunovic, Caroline Sewry, Mark Walker, Kate Bushby, R. Mein, Godwin Mamutse, Sujit S. Vaidya, M. Yau, Matt Parton
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 89:762-768
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Glycosylation, Muscle biopsy, medicine.diagnostic_test, business.industry, Genetic heterogeneity, medicine.disease, Phenotype, 03 medical and health sciences, Psychiatry and Mental health, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, chemistry, Western blot, medicine, Surgery, Neurology (clinical), Muscular dystrophy, Guanosine diphosphate mannose, business, Gene, 030217 neurology & neurosurgery
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المؤلفون: Fiona Norwood, Puja Mehta, Naomi Sibtain, Peter Brex
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 90:e7.3-e8
مصطلحات موضوعية: Thorax, Past medical history, Pathology, medicine.medical_specialty, medicine.diagnostic_test, Latent tuberculosis, business.industry, Cancer, medicine.disease, Transverse myelitis, Psychiatry and Mental health, Fine-needle aspiration, medicine, Surgery, Neurology (clinical), business, Lung cancer, Hilar Mass
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المؤلفون: Katsiaryna Belaya, Samuel I. Pascual-Pascual, Timothy J. Walls, Sarah Finlayson, Judith Cossins, Fiona Norwood, David Beeson, Janice L. Holton, Jacqueline Palace, G Burke
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Neuromuscular disease, Glycosylation, Biopsy, DNA Mutational Analysis, Neuromuscular Junction, Neuropathology, N-Acetylglucosaminyltransferases, Neuromuscular junction, Diagnosis, Differential, health services administration, medicine, Potassium Channel Blockers, Humans, Albuterol, Exome, Repetitive nerve stimulation, Genetic Testing, 4-Aminopyridine, Age of Onset, Myopathy, Muscle, Skeletal, Adrenergic beta-2 Receptor Agonists, health care economics and organizations, Motor Neurons, Myasthenic Syndromes, Congenital, Neurologic Examination, Muscle biopsy, medicine.diagnostic_test, business.industry, DPAGT1, Congenital myasthenic syndrome, Middle Aged, medicine.disease, Psychiatry and Mental health, medicine.anatomical_structure, Phenotype, Surgery, Female, Neurology (clinical), Cholinesterase Inhibitors, medicine.symptom, Amifampridine, business, Pyridostigmine Bromide
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e5c08aca72a52869d0f6ff6aede3768
https://doi.org/10.1136/jnnp-2012-304716 -
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المؤلفون: Bjarne Udd, Bruno Eymard, Rosaline Quinlivan, Giorgio Tasca, Taneli Raivio, Lars Edström, Ibrahim Mahjneh, Anni Evilä, Maxwell S. Damian, Fiona Norwood, Frédéric Chevessier, Rolf Schröder, Caroline Sewry, Françoise Chapon, Andoni Echaniz-Laguna, Johanna Palmio, Fengqing Xiang, Jocelyn Laporte, Anders Oldfors, Andrés Berardo, Peter Hackman, Ana Lia Taratuto, Mikko Kärppä, Philipp Gölitz, Matthias Tuerk, Johanna Tommiska, Pascal Laforêt, Jose Antonio Bueri, Carola Hedberg, Björn Brådvik
المصدر: Journal of Neurology, Neurosurgery and Psychiatry; 85(3), pp 345-353 (2014)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neuromuscular disease, GENETICS, medicine.disease_cause, symbols.namesake, MYOPATHY, Medizinische Fakultät, medicine, EPIDEMIOLOGY, ddc:610, Myopathy, Genotyping, Exome sequencing, Genetics, Sanger sequencing, Mutation, Muscle biopsy, medicine.diagnostic_test, biology, business.industry, medicine.disease, 3. Good health, Psychiatry and Mental health, Neurology, biology.protein, symbols, Surgery, Titin, Neurology (clinical), medicine.symptom, business
وصف الملف: application/pdf
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المؤلفون: Michael J. Phillips, William R.G. Gibb, Cliff Shearman, P. McMonagle, Fiona Norwood, Ian Galea
المصدر: Neurology. 71(24)
مصطلحات موضوعية: Brain Infarction, Male, medicine.medical_specialty, medicine.medical_treatment, Chorea, Internal medicine, Parietal Lobe, medicine, Humans, Carotid Stenosis, Endarterectomy, Cerebrovascular Ischemia, Aged, Endarterectomy, Carotid, Ultrasonography, Doppler, Duplex, medicine.diagnostic_test, Upper motor neuron, business.industry, Parietal lobe, Brain, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Paresis, Stenosis, medicine.anatomical_structure, Treatment Outcome, Dyskinesia, Cardiology, Disease Progression, Somatosensory Disorders, Female, Neurology (clinical), Radiology, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83ba40f542ffdc77d1d6767a5885f644
https://pubmed.ncbi.nlm.nih.gov/19064875 -
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المؤلفون: Fiona Perry, Abrie Botha, Alexander M. Rossor, Fiona Norwood
المصدر: Case Reports. 2014:bcr2013202849-bcr2013202849
مصطلحات موضوعية: Endoscopic ultrasound, medicine.medical_specialty, Esophageal Neoplasms, Encephalopathy, Context (language use), Article, Fatal Outcome, Oscillopsia, Opsoclonus myoclonus syndrome, Carcinoma, medicine, Humans, Opsoclonus-Myoclonus Syndrome, medicine.diagnostic_test, business.industry, Neurooncology, General Medicine, Middle Aged, medicine.disease, Surgery, medicine.anatomical_structure, Carcinoma, Squamous Cell, Abdomen, Female, Radiology, medicine.symptom, business