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المؤلفون: Sujata Khajuria, Khuen Foong Ng, Rosalind J Jefferson
المصدر: Archives of Disease in Childhood. 105:906-910
مصطلحات موضوعية: Hypersalivation, medicine.medical_specialty, business.industry, MEDLINE, Cochrane Library, medicine.disease, Drooling, law.invention, Cerebral palsy, Clinical trial, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, 030225 pediatrics, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Acupuncture, medicine.symptom, business
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المؤلفون: Esther Meyer, Christian de Goede, Manju A. Kurian, Sniya Sudhakar, Barbara Csányi, Helen Coutts, Lucia Abela, Simon Heales, Joanne Ng, Sandeep Jayawant, Detelina Grozeva, Karl Rakshi, Angels García-Cazorla, Belén Pérez‐Dueñas, K.M. Gorman, Lorenzo Biassoni, John Cain, Toni S. Pearson, F. Lucy Raymond, Elisenda Cortès-Saladelafont, Deborah Hughes, Rosalind J. Jefferson, Kshitij Mankad, Pichet Termsarasab, Simon Pope
المصدر: Movement Disorders
MOVEMENT DISORDERS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: 0301 basic medicine, Movement disorders, parkinsonism, DNAJC6, Dopamine, Auxilin, Regular Issue Articles, Bioinformatics, dopamine, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Parkinsonian Disorders, Medicine, Homeostasis, Humans, Neurotransmitter, Child, Research Articles, Dystonia, auxilin, business.industry, Parkinsonism, Neurodegeneration, Dopaminergic, dystonia, HSP40 Heat-Shock Proteins, medicine.disease, 030104 developmental biology, Neurology, chemistry, Mutation, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug, Research Article
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المؤلفون: Rosaline Caumes, Andrea Berger, John Stone, Roberta Battini, Charles Marques Lourenço, Gerardine Quaghebeur, Nicholas A. Fletcher, Elliott H. Sherr, Marjo S. van der Knaap, Sanjeev S. Bhaskar, Marco Henneke, Kanaga R. Sinnathuray, Pierre Landrieu, James O'Sullivan, Calvin Soh, Himanshu Goel, Patrick Ferreira, Katrin Õunap, Cheryl Hemingway, Laurence C. Goosey, Graham D. Pavitt, Hilde Van Esch, Prab Prabhakar, Yoann Rose, Jill E. Urquhart, Yanick J. Crow, Gabriela M. Baerlocher, Simon G. Williams, Mathieu P Rodero, Ram L. Kumar, Emma M. Jenkinson, Gillian I. Rice, Sarju G. Mehta, Adeline Vanderver, Timothy J. Malpas, Christopher J. Kershaw, Imke Metz, Edward Blair, Paul R. Kasher, Imelda Hughes, Patrick Revy, David Cassiman, Duccio Maria Cordelli, Angela Barnicoat, Andrea Whitney, Janice E. Brunstrom-Hernandez, Axel Panzer, Kristin W. Barañano, Liesbeth De Waele, Geraldine Aubert, Raphael Schiffmann, H. Stewart, Monika Haubitz, Rosalind J. Jefferson, Alan Fryer, Anthony Oojageer, Carolina Uggenti, John H. Livingston, Sam Griffiths-Jones, Christine E. G. van Mol, Johannes A. Buckard, Raymond T. O'Keefe, Lieven Lagae, Emma Wakeling, Sakkubai Naidu, Alex J. Fay
المساهمون: Laboratoire de Chimie et de Biochimie Pharmacologiques et Toxicologiques (LCBPT - UMR 8601), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Manchester Centre for Genomic Medicine (MCGM), Manchester Academic Health Science Centre (MAHSC), University of Manchester [Manchester]-University of Manchester [Manchester]-Faculty of Biology, Medicine and Health [Manchester, UK], University of Manchester [Manchester]-Manchester University NHS Foundation Trust (MFT)-St Mary's Hospital Manchester, Laboratory of neurogenetics and neuroinflammation (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Faculty of Biology, Medicine and Health [Manchester, UK], University of Manchester [Manchester], Department of Medical Genetics, HMNC Brain Health
المصدر: Nature genetics
Nature Genetics
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.317-317. ⟨10.1038/NG0217-317B⟩
Jenkinson, E M, Rodero, M P, Kasher, P R, Uggenti, C, Oojageer, A, Goosey, L C, Rose, Y, Kershaw, C J, Urquhart, J E, Williams, S G, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Barañano, K W, Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenço, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S, Õunap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H S, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G D, Griffiths-Jones, S, Rice, G I, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R T & Crow, Y J 2017, ' Corrigendum : Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts ', Nature Genetics, vol. 49, no. 2, pp. 317 . https://doi.org/10.1038/ng0217-317bمصطلحات موضوعية: 0303 health sciences, Pathology, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Biology, medicine.disease, Article, 3. Good health, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Cerebral microangiopathy, Genetics, medicine, 610 Medicine & health, 030217 neurology & neurosurgery, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology
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المؤلفون: Elliott H. Sherr, Edward Blair, Charles Marques Lourenço, James O'Sullivan, Imke Metz, Paul R. Kasher, Gabriela M. Baerlocher, Adeline Vanderver, David Cassiman, Himanshu Goel, Nicholas A. Fletcher, Patrick Ferreira, Patrick Revy, Emma Wakeling, Ram L. Kumar, Lieven Lagae, Christopher J. Kershaw, Pierre Landrieu, Andrea Whitney, Calvin Soh, Christine E. G. van Mol, Sakkubai Naidu, John H. Livingston, Geraldine Aubert, H. Stewart, Laurence C. Goosey, Liesbeth De Waele, Kristin W. Barañano, Rosalind J. Jefferson, Axel Panzer, Gerardine Quaghebeur, Raphael Schiffmann, Yanick J. Crow, Hilde Van Esch, Raymond T. O'Keefe, Jill E. Urquhart, Alan Fryer, Mathieu P Rodero, Alex J. Fay, Monika Haubitz, Andrea Berger, Johannes A. Buckard, Cheryl Hemingway, Angela Barnicoat, Sam Griffiths-Jones, Duccio Maria Cordelli, Imelda Hughes, Katrin Õunap, Graham D. Pavitt, Roberta Battini, Yoann Rose, Marjo S. van der Knaap, Sanjeev S. Bhaskar, John Stone, Gillian I. Rice, Marco Henneke, Kanaga R. Sinnathuray, Emma M. Jenkinson, Timothy J. Malpas, Simon G. Williams, Anthony Oojageer, Carolina Uggenti, Rosaline Caumes, Prab Prabhakar, Sarju G. Mehta, Janice E. Brunstrom-Hernandez
المساهمون: Manchester Centre for Genomic Medicine (MCGM), Manchester Academic Health Science Centre (MAHSC), University of Manchester [Manchester]-University of Manchester [Manchester]-Faculty of Biology, Medicine and Health [Manchester, UK], University of Manchester [Manchester]-Manchester University NHS Foundation Trust (MFT)-St Mary's Hospital Manchester, Laboratoire de Chimie et de Biochimie Pharmacologiques et Toxicologiques (LCBPT - UMR 8601), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Manchester [Manchester], Department of Medical Genetics, HMNC Brain Health, Other departments, Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yoann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O'Sullivan, Jame, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E. G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, Van Der Knaap, Marjo S., Livingston, John H., O'Keefe, Raymond T., Crow, Yanick J., Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms
المصدر: Jenkinson, E M, Rodero, M P, Kasher, P R, Uggenti, C, Oojageer, A, Goosey, L C, Rose, Y, Kershaw, C J, Urquhart, J E, Williams, S G, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Baranano, K W, Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenco, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S, Ounap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H S, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G D, Griffiths-Jones, S, Rice, G I, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R T & Crow, Y J 2016, ' Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts ', Nature Genetics, vol. 48, no. 10, pp. 1185-1192 . https://doi.org/10.1038/ng.3661
Nature Genetics
Nature Genetics, Nature Publishing Group, 2016, 48 (10), pp.1185-1192. ⟨10.1038/NG.3661⟩
Nature genetics, 48(10), 1185-1192. Nature Publishing Group
Jenkinson, E, Rodero, M P, Kasher, P, Uggenti, C, Oojageer, A, Goosey, L, Rose, Y, Urquhart, J, Williams, S, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Barañano, K W, Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenço, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S, Õunap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G, Griffiths-Jones, S, Rice, G, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R, Crow, Y & Kershaw, C 2016, ' Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts ', Nature Genetics, vol. 48, no. 10, pp. 1185–1192 . https://doi.org/10.1038/ng.3661
Nature Genetics, 48(10), 1185-1192. Nature Publishing Groupمصطلحات موضوعية: 0301 basic medicine, Male, Genetic Linkage, [SDV]Life Sciences [q-bio], Ribosome biogenesis, medicine.disease_cause, Leukoencephalopathy, Leukoencephalopathie, Cohort Studies, 0302 clinical medicine, Leukoencephalopathies, Exome, Small nucleolar RNA, 610 Medicine & health, Child, ComputingMilieux_MISCELLANEOUS, Genetics, Mutation, Genome, Cysts, Calcinosis, Middle Aged, Phenotype, Child, Preschool, Calcinosi, Female, Sequence Analysis, Human, Adult, Adolescent, Biology, Chromosomes, Cell Line, 03 medical and health sciences, Young Adult, medicine, RNA, Small Nucleolar, Humans, Preschool, Gene, Small Nucleolar, Genome, Human, Pair 17, RNA, Infant, Sequence Analysis, DNA, DNA, Cerebral Small Vessel Diseases, Chromosomes, Human, Pair 17, medicine.disease, Cerebral Small Vessel Disease, 030104 developmental biology, Cyst, Cohort Studie, 030217 neurology & neurosurgery
وصف الملف: STAMPA; application/pdf
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المؤلفون: Karine Lascelles, Manju A. Kurian, Sanjay Bhate, Anthony Cronin, J. Helen Cross, Amy McTague, Elaine Hughes, Andrew Curran, Esther Meyer, Rachel Kneen, Ailsa McLellan, Thomas S. Jacques, John H. Livingston, Archana Desurkar, Rosalind J. Jefferson, Ingrid E. Scheffer, Richard Appleton, Annapurna Poduri, Michael A. Farrell, Stefan Spinty, Mary D. King, Shivaram Avula
المصدر: Brain. 136:1578-1591
مصطلحات موضوعية: Male, PLCB1, Pathology, medicine.medical_specialty, Movement disorders, Cohort Studies, Epilepsy, Atrophy, Neuroimaging, medicine, Humans, Comparative Genomic Hybridization, medicine.diagnostic_test, business.industry, Infant, Electroencephalography, Magnetic resonance imaging, Original Articles, medicine.disease, Magnetic Resonance Imaging, Hypsarrhythmia, Radiography, Population Surveillance, Mutation, Female, Epilepsies, Partial, Neurology (clinical), Levetiracetam, medicine.symptom, business, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5b82b752bd0e286879e7296583456b0
https://doi.org/10.1093/brain/awt073 -
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المؤلفون: Marjo S. van der Knaap, Michael Absoud, Rosalind J. Jefferson, John H. Livingston, Sandeep Jayawant, Rakesh Jain
المصدر: Developmental Medicine & Child Neurology. 52:1160-1163
مصطلحات موضوعية: Dystonia, Mutation, Pathology, medicine.medical_specialty, Glial fibrillary acidic protein, biology, medicine.disease, medicine.disease_cause, Alexander disease, Frameshift mutation, Developmental Neuroscience, Calcinosis, Pediatrics, Perinatology and Child Health, medicine, biology.protein, Etiology, Neurology (clinical), Calcification
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::da2b61229875dd0be0f4a18f96e163af
https://doi.org/10.1111/j .1469-8749.2010.03784.x -
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المؤلفون: Rosalind J Jefferson
المصدر: Developmental Medicine & Child Neurology. 46:491-499
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Cerebral Palsy, Cost-Benefit Analysis, medicine.disease, Botulinum toxin, Cerebral palsy, Physical medicine and rehabilitation, Neuromuscular Agents, Developmental Neuroscience, Scientific development, Pediatrics, Perinatology and Child Health, Humans, Medicine, Orthopedic Procedures, Spasticity, Neurology (clinical), Botulinum Toxins, Type A, medicine.symptom, business, Neuroscience, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d162d2424b1a0ecb2acadc0dd2a1c9cd
https://doi.org/10.1111/j .1469-8749.2004.tb00511.x -
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المؤلفون: Andrea Berger, Katrin Õunap, Paul R. Kasher, Yanick J. Crow, Emma M. Jenkinson, Duccio Maria Cordelli, Emma Wakeling, Helen Stewart, Andrea Whitney, John H. Livingston, Calvin Soh, Patrick Ferreira, Christine E. G. van Mol, Staffan Lundberg, Stavros Stivaros, Josephine Mayer, Rosalind J. Jefferson, Prab Prabhakar, Jon Stone, Georg Kutschke, Gillian I. Rice, Marjo S. van der Knaap, Hilda van Esch
المساهمون: Other departments, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Pediatric surgery, NCA - Brain mechanisms in health and disease, Livingston, John H., Mayer, Josephine, Jenkinson, Emma, Kasher, Paul, Stivaros, Stavro, Berger, Andrea, Cordelli, Duccio M., Ferreira, Patrick, Jefferson, Rosalind, Kutschke, Georg, Lundberg, Staffan, Ounap, Katrin, Prabhakar, Prab, Soh, Calvin, Stewart, Helen, Stone, Jon, Van Der Knaap, Marjo S., Van Esch, Hilda, Van Mol, Christine, Wakeling, Emma, Whitney, Andrea, Rice, Gillian I., Crow, Yanick J.
المصدر: Livingston, J H, Mayer, J, Jenkinson, E, Kasher, P, Stivaros, S, Berger, A, Cordelli, D M, Ferreira, P, Jefferson, R, Kutschke, G, Lundberg, S, Ounap, K, Prabhakar, P, Soh, C, Stewart, H, Stone, J, van der Knaap, M S, Van Esch, H, van Mol, C, Wakeling, E, Whitney, A, Rice, G I & Crow, Y J 2014, ' Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus ', Neuropediatrics, vol. 45, no. 3, pp. 175-182 . https://doi.org/10.1055/s-0033-1364180
Neuropediatrics, 45(3), 175-182. Hippokrates Verlag GmbHمصطلحات موضوعية: Adult, leukoencephalopathy, Cerebellum, Pathology, medicine.medical_specialty, Tomography Scanners, X-Ray Computed, Adolescent, coats plu, Neurological disorder, intracranial calcification, Leukoencephalopathie, Leukoencephalopathy, White matter, Young Adult, Leukoencephalopathies, Basal ganglia, Humans, Medicine, Child, Nervous System Disease, Cerebral atrophy, Brain Diseases, Cysts, business.industry, Brain Disease, Infant, Newborn, Calcinosis, Infant, General Medicine, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Cyst, medicine.anatomical_structure, Dentate nucleus, Child, Preschool, Pediatrics, Perinatology and Child Health, Calcinosi, Neurology (clinical), Nervous System Diseases, business, Human, Calcification
وصف الملف: STAMPA; Print-Electronic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::584ac8c5189b53dc358d84437f351361
https://research.vumc.nl/en/publications/fa53c7ca-9fcf-43c2-89b3-eeaa19ef4432 -
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المؤلفون: Rosalind J, Jefferson, Michael, Absoud, Rakesh, Jain, John H, Livingston, Marjo S, VAN DER Knaap, Sandeep, Jayawant
المصدر: Developmental medicine and child neurology. 52(12)
مصطلحات موضوعية: Male, Glial Fibrillary Acidic Protein, Mutation, Calcinosis, Humans, Alexander Disease, Child, Tomography, X-Ray Computed, Magnetic Resonance Imaging, Cerebral Ventricles
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المؤلفون: Rosalind J Jefferson
مصطلحات موضوعية: Orthodontics, medicine.medical_specialty, Rib cage, Light, business.industry, Reproducibility of Results, Idiopathic scoliosis, Scoliosis, Axial rotation, medicine.disease, Surface shape, Surgery, Radiological weapon, Pediatrics, Perinatology and Child Health, Deformity, medicine, Humans, medicine.symptom, business, Letters to the Editor, Moire Topography
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ddf02725b3442c3e844d63cd7e0f529
https://europepmc.org/articles/PMC1718327/
Find this article in full text from Springer Verlag.