المؤلفون: John Taylor, Jude Craft, Edward Blair, Sarah Wordsworth, David Beeson, Saleel Chandratre, Judith Cossins, Tracy Lester, Andrea H. Németh, Elizabeth Ormondroyd, Smita Y. Patel, Alistair T. Pagnamenta, Jenny C. Taylor, Kate L. Thomson, Hugh Watkins, Andrew O. M. Wilkie, Julian C. Knight

المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-12 (2019)

مصطلحات موضوعية: Genetic disease, Genome sequencing, Exome, Multidisciplinary team, Next-generation sequencing, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13073-019-0651-9Test; https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/cdc63af88c78403ab16517dff6627483Test

المؤلفون: Haitham Elbashir, Waseem Fathalla, Vivek Mundada, Mehtab Iqbal, Asmaa A Al Tawari, Saleel Chandratre, Laila Bastaki, Ingy Romany, Omar Ismayl, Ahmad Abou Tayoun

المصدر: Journal of neuromuscular diseases. 9(6)

مصطلحات موضوعية: Muscular Dystrophy, Duchenne, Middle East, Neurology, Humans, Neurology (clinical), Genetic Testing, Genetic Therapy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eeff9250a45bcd5185f3f205f940330Test
https://pubmed.ncbi.nlm.nih.gov/36245386Test

المؤلفون: Silvia, Messina, Maciej, Jurynczyk, R, Woodhall Mark, George, Tackley, Saleel, Chandratre, Cheryl, Hemingway, Patrick, Waters, Isabel, Leite Maria, Jacqueline, Palace

مصطلحات موضوعية: Parallel session 4: long term conditions, 16.27

وصف الملف: text/html

العلاقة: http://jnnp.bmj.com/cgi/content/short/89/10/A46-cTest; http://dx.doi.org/10.1136/jnnp-2018-ABN.159Test

الإتاحة: https://doi.org/10.1136/jnnp-2018-ABN.159Test
http://jnnp.bmj.com/cgi/content/short/89/10/A46-cTest

المؤلفون: Victor, Ronald G, Sweeney, H. Lee, Finkel, Richard, Mcdonald, Craig M, Byrne, Barry, Eagle, Michelle, Goemans, Nathalie, Vandenborne, Krista, Dubrovsky, Alberto L, Topaloglu, Haluk, Miceli, M. Carrie, Furlong, Pat, Landry, John, Elashoff, Robert, Cox, David, Hoda, Abdel-Hamid, Susan, Apkon, Richard, Barohn, Elena, Belousova, Enrico, Bertini, John, Brandsema, Claudio, Bruno, William, Burnette, Russell, Butterfield, Barry, Byrne, Craig, Campbell, Jose, Carlo, Jong-Hee, Chae, Saleel, Chandratre, Giacomo, Comi, Anne, Connolly, Imelda De Groot, Nicolas, Deconinck, Joseph, Dooley, Alberto, Dubrovsky, Julien, Durigneux, Erika, Finanger, Richard, Finkel, L Matthew Frank, Nathalie, Goemans, Amy, Harper, Ayako, Hattori, Ozlem, Herguner, Susan, Iannaccone, Joanne, Janas, Yuh-Jyh, Jong, Janberd, Kirschner, Hirofumi, Komaki, Nancy, Kuntz, Wang-Tso, Lee, Edward, Leung, Jean, Mah, Katherine, Mathews, Craig, Mcdonald, Eugenio, Mercuri, Hugh, Mcmillan, Wolfgang, Mueller-Felber, Adolfo Lopez de Munain, Akinori, Nakamura, Erik, Niks, Katsuhisa, Ogata, Samuel, Pascual, Pegoraro, Elena, Yann, Pereon, Ben, Renfroe, Ratna Bhavaraju Sanka, Jens, Schallner, Ulrike, Schara, Kathryn, Selby, Isabel Illa Sendra, Laurent, Servais, Edward, Smith, Susan, Sparks, Haluk, Topaloglu, Ron, Victor, Juan Jose Vilchez, Matthew, Wicklund, Ekkehard, Wilichoswki, Brenda, Wong

المساهمون: L, Servais., Çocuk Sağlığı ve Hastalıkları, Schara, Ulrike (Beitragende*r)

المصدر: Neurology, vol 89, iss 17
Neurology
Neurology, 89(17), 1811-1820
Neurology, 89 (17

مصطلحات موضوعية: 0301 basic medicine, Male, Duchenne muscular dystrophy, Vasodilator Agents, International Cooperation, Left, Medizin, Placebo-controlled study, Walking, Ventricular Function, Left, law.invention, Pulmonary function testing, Tadalafil, Efficacy, 0302 clinical medicine, Randomized controlled trial, law, Heart Rate, Ventricular Function, Muscular Dystrophy, Child, Pediatric, Sciences bio-médicales et agricoles, 3. Good health, Respiratory Function Tests, Treatment Outcome, Area Under Curve, 6.1 Pharmaceuticals, Ambulatory, Cognitive Sciences, Walking -- physiology, Drug, medicine.drug, musculoskeletal diseases, Duchenne/ Becker Muscular Dystrophy, medicine.medical_specialty, Adolescent, Intellectual and Developmental Disabilities (IDD), Clinical Trials and Supportive Activities, Clinical Sciences, Vasodilator Agents -- therapeutic use, Tadalafil -- therapeutic use, Placebo, Article, Dose-Response Relationship, 03 medical and health sciences, Rare Diseases, Double-Blind Method, Clinical Research, Internal medicine, medicine, Heart Rate -- physiology, Humans, Glucocorticoids, Neurology & Neurosurgery, Dose-Response Relationship, Drug, business.industry, Neurosciences, Evaluation of treatments and therapeutic interventions, medicine.disease, Duchenne, Glucocorticoids -- therapeutic use, Tadalafil DMD Study Group, Brain Disorders, Muscular Dystrophy, Duchenne, 030104 developmental biology, Musculoskeletal, Muscular Dystrophy, Duchenne -- drug therapy -- psychology, Quality of Life, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/pdf; Print-Electronic; text/plain; 2 full-text file(s): application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0e6503a882dfb553f43c58e0475c30Test
https://ora.ox.ac.uk/objects/uuid:07acefc6-f3c1-43d6-aaff-dd314f53221cTest

المؤلفون: Romain Marignier, H. J. Kim, Georgina Arrambide, Brigitte Wildemann, Friedemann Paul, Tom Solomon, Kumaran Deiva, Shanthi Viswanathan, Mike Boggild, Russell C. Dale, Sudarshini Ramanathan, Saleel Chandratre, Ilya Kister, Marcelo Matiello, Gulsen Akman-Demir, Rachel Kneen, Olga Ciccarelli, Ingo Kleiter, Venkatraman Karthikeayan, Silvia Tenembaum, Peter Huppke, E Gibbons, Asya I. Wallach, Ichiro Nakashima, Kazuo Fujihara, J. Y. Hor, Marco Aurélio Lana-Peixoto, Marco Capobianco, Philippe Cabre, Maria Margherita Mancardi, Kevin Rostasy, Eric C. Klawiter, Margherita Nosadini, Mar Tintoré, Daniel Whittam, Brenda Banwell, Ayse Altintas, Jeffrey Bennett, Maria Isabel Leite, M. Apiwattankul, Anu Jacob, Brian G. Weinshenker, Wei Qiu, Simon Broadley, Zsolt Illes, Aksel Siva, Maria Pia Amato, Jacqueline Palace, J. de Seze, Douglas Kazutoshi Sato, Bernhard Hemmer, Ming K. Lim, Anne-Katrin Pröbstel, Saif Huda, Michael J. Levy, Benjamin Greenberg, Dean M. Wingerchuk, Yael Hacohen, Orhan Aktas, Lekha Pandit, Sven Jarius, Daniela Pohl, Rogier Q. Hintzen, Anthony Traboulsee

المساهمون: Neurology

المصدر: J Neurol
Journal of Neurology, 267(12), 3565-3577. D. Steinkopff-Verlag
Whittam, D H, Karthikeayan, V, Gibbons, E, Kneen, R, Chandratre, S, Ciccarelli, O, Hacohen, Y, de Seze, J, Deiva, K, Hintzen, R Q, Wildemann, B, Jarius, S, Kleiter, I, Rostasy, K, Huppke, P, Hemmer, B, Paul, F, Aktas, O, Pröbstel, A K, Arrambide, G, Tintore, M, Amato, M P, Nosadini, M, Mancardi, M M, Capobianco, M, Illes, Z, Siva, A, Altintas, A, Akman-Demir, G, Pandit, L, Apiwattankul, M, Hor, J Y, Viswanathan, S, Qiu, W, Kim, H J, Nakashima, I, Fujihara, K, Ramanathan, S, Dale, R C, Boggild, M, Broadley, S, Lana-Peixoto, M A, Sato, D K, Tenembaum, S, Cabre, P, Wingerchuk, D M, Weinshenker, B G, Greenberg, B, Matiello, M, Klawiter, E C, Bennett, J L, Wallach, A I, Kister, I, Banwell, B L, Traboulsee, A, Pohl, D, Palace, J, Leite, M I, Levy, M, Marignier, R, Solomon, T, Lim, M, Huda, S & Jacob, A 2020, ' Treatment of MOG antibody associated disorders : results of an international survey ', Journal of Neurology, vol. 267, no. 12, pp. 3565–3577 . https://doi.org/10.1007/s00415-020-10026-yTest

مصطلحات موضوعية: Adult, medicine.medical_specialty, Neurology, MOG, treatment, survey, Azathioprine, Article, MOGAD, Myelin oligodendrocyte glycoprotein, 03 medical and health sciences, 0302 clinical medicine, Maintenance therapy, Surveys and Questionnaires, Internal medicine, Humans, Medicine, MOG, survey, 030212 general & internal medicine, Survey, Child, Autoantibodies, Response rate (survey), biology, treatment, business.industry, Immunoglobulins, Intravenous, Plasmapheresis, Clinical trial, biology.protein, Myelin-Oligodendrocyte Glycoprotein, Rituximab, Neurology (clinical), Antibody, business, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1d243c6172585dcb658a0d3ac7b1c82Test
http://hdl.handle.net/11577/3356339Test

المؤلفون: Pieter M. Pretorius, Grace Vassallo, Saleel Chandratre, Beatrice Emmanouil, D. Gareth Evans, James Nicholson, Karine Lascelles, Allyson Parry, Martin Wasik, Dorothy Halliday, Geetha Anand

المصدر: Halliday, D, Emmanouil, B, Vassallo, G, Lascelles, K, Nicholson, J, Chandratre, S, Anand, G, Wasik, M, Pretorius, P & Evans, D G 2019, ' Trends in phenotype in the English paediatric Neurofibromatosis Type 2 cohort stratified by genetic severity ', Clinical Genetics . https://doi.org/10.1111/cge.13551Test

مصطلحات موضوعية: 0301 basic medicine, Ependymoma, Neurofibromatosis 2, Pediatrics, medicine.medical_specialty, Adolescent, Bevacizumab, 030105 genetics & heredity, Schwannoma, childhood NF2, Severity of Illness Index, Meningioma, 03 medical and health sciences, Genotype, Genetics, medicine, otorhinolaryngologic diseases, Humans, Genetic Predisposition to Disease, Neurofibromatosis type 2, Child, Genetic Association Studies, Genetics (clinical), paediatric NF2 genotype phenotype, NF2 genetic severity score, business.industry, Disease Management, Exons, Cortical dysplasia, medicine.disease, Combined Modality Therapy, Magnetic Resonance Imaging, Phenotype, 030104 developmental biology, NF2, Cohort, business, Follow-Up Studies, medicine.drug

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07c7b7142d4f6c4d41f0607c33875470Test
https://www.research.manchester.ac.uk/portal/en/publications/trends-in-phenotype-in-the-english-paediatric-neurofibromatosis-type-2-cohort-stratified-by-genetic-severityTest(e6bfb523-9c8c-4da2-b233-60769097ae2c).html

المؤلفون: Olga Ciccarelli, Maria Isabel Leite, Sukhvir Wright, Jacqueline Palace, Saleel Chandratre, Cheryl Hemingway, Hoong-Wei Gan, Angela Vincent, Evangeline Wassmer, Ming K. Lim, Penny Fallon, Yael Hacohen, Silvia Messina

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, endocrine system diseases, Hypothalamus, Endocrine System Diseases, Short stature, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Hypothyroidism, Quality of life, Hyperinsulinism, 030225 pediatrics, Prevalence, medicine, Central hypothyroidism, Humans, Immunologic Factors, Spectrum disorder, Child, Amenorrhea, Autoantibodies, Aquaporin 4, Neuromyelitis optica, business.industry, Multiple sclerosis, Neuromyelitis Optica, Hyperandrogenism, medicine.disease, Magnetic Resonance Imaging, Obesity, Morbid, Caribbean Region, Neurology, Quality of Life, Female, Neurology (clinical), sense organs, Morbidity, medicine.symptom, business, 030217 neurology & neurosurgery, Hyponatremia

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4a364118732d937984db0a2c5a5cdafTest
https://publications.aston.ac.uk/id/eprint/32750/1/Hacohen_et_al_AQP4_endocrinopathies_R1_unmarked.pdfTest

المؤلفون: Angela Sheard, George Tackley, M. Isabel Leite, Naheed Raza, Gavin L Reynolds, Adriana Roca-Fernandez, Angela Vincent, Mark Woodhall, Silvia Messina, Shahd Hamid, Patrick Waters, Anu Jacob, Rosie Everett, Jacqueline Palace, Maciej Juryńczyk, Saleel Chandratre, Cheryl Hemingway

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Lower risk, Transverse myelitis, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Disabled Persons, Optic neuritis, Child, Aged, Autoantibodies, Aged, 80 and over, Neuromyelitis optica, Expanded Disability Status Scale, business.industry, Neuromyelitis Optica, Infant, Middle Aged, Prognosis, medicine.disease, United Kingdom, Erectile dysfunction, Child, Preschool, Acute disseminated encephalomyelitis, Cohort, 030221 ophthalmology & optometry, Female, Myelin-Oligodendrocyte Glycoprotein, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::908af4afc9880ff626cebcacaa7eba92Test
https://doi.org/10.1093/brain/awx276Test

المؤلفون: Victor, Ronald G, Sweeney, H. Lee, Finkel, Richard, Mcdonald, Craig M, Byrne, Barry, Eagle, Michelle, Goemans, Nathalie, Vandenborne, Krista, Dubrovsky, Alberto L, Topaloglu, Haluk, Miceli, M. Carrie, Furlong, Pat, Landry, John, Elashoff, Robert, Cox David, Hoda Abdel-Hamid, Susan Apkon, Richard Barohn, Elena Belousova, Enrico Bertini, John Brandsema, Claudio Bruno, William Burnette, Russell Butterfield, Barry Byrne, Craig Campbell, Jose Carlo, Jong-Hee Chae, Saleel Chandratre, Giacomo Comi, Anne Connolly, Imelda De Groot, Nicolas Deconinck, Joseph Dooley, Alberto Dubrovsky, Julien Durigneux, Erika Finanger, Richard Finkel, L Matthew Frank, Nathalie Goemans, Amy Harper, Ayako Hattori, Ozlem Herguner, Susan Iannaccone, Joanne Janas, Yuh-Jyh Jong, JanBerd Kirschner, Hirofumi Komaki, Nancy Kuntz, Wang-Tso Lee, Edward Leung, Jean Mah, Katherine Mathews, Craig McDonald, Eugenio Mercuri, Hugh McMillan, Wolfgang Mueller-Felber, Adolfo Lopez de Munain, Akinori Nakamura, Erik Niks, Katsuhisa Ogata, Samuel Pascual, Elena Pegoraro, Yann Pereon, Ben Renfroe, Ratna Bhavaraju Sanka, Jens Schallner, Ulrike Schara, Kathryn Selby, Isabel Illa Sendra, Laurent Servais, Edward Smith, Susan Sparks, Haluk Topaloglu, Ron Victor, Juan Jose Vilchez, Matthew Wicklund, Ekkehard Wilichoswki, Brenda Wong

المساهمون: Ronald G, Victor, H. Lee, Sweeney, Richard, Finkel, Craig M, Mcdonald, Barry, Byrne, Michelle, Eagle, Nathalie, Goeman, Krista, Vandenborne, Alberto L, Dubrovsky, Haluk, Topaloglu, M. Carrie, Miceli, Pat, Furlong, John, Landry, Robert, Elashoff, David, Cox, Abdel-Hamid, Hoda, Apkon, Susan, Barohn, Richard, Belousova, Elena, Bertini, Enrico, Brandsema, John, Bruno, Claudio, Burnette, William, Butterfield, Russell, Byrne, Barry, Campbell, Craig, Carlo, Jose, Chae, Jong-Hee, Chandratre, Saleel, Comi, Giacomo, Connolly, Anne, De Groot, Imelda, Deconinck, Nicola, Dooley, Joseph, Dubrovsky, Alberto, Durigneux, Julien, Finanger, Erika, Finkel, Richard, Matthew Frank, L, Goemans, Nathalie, Harper, Amy, Hattori, Ayako, Herguner, Ozlem, Iannaccone, Susan, Janas, Joanne, Jong, Yuh-Jyh, Kirschner, Janberd, Komaki, Hirofumi, Kuntz, Nancy, Lee, Wang-Tso, Leung, Edward, Mah, Jean, Mathews, Katherine, Mcdonald, Craig, Mercuri, Eugenio, Mcmillan, Hugh, Mueller-Felber, Wolfgang, Lopez de Munain, Adolfo, Nakamura, Akinori, Niks, Erik, Ogata, Katsuhisa, Pascual, Samuel, Pegoraro, Elena, Pereon, Yann, Renfroe, Ben, Bhavaraju Sanka, Ratna, Schallner, Jen, Schara, Ulrike, Selby, Kathryn, Illa Sendra, Isabel, Servais, Laurent, Smith, Edward, Sparks, Susan, Topaloglu, Haluk, Victor, Ron, Jose Vilchez, Juan, Wicklund, Matthew, Wilichoswki, Ekkehard, Wong, Brenda

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28972192; info:eu-repo/semantics/altIdentifier/wos/WOS:000417674200014; volume:89; issue:17; firstpage:1811; lastpage:1820; numberofpages:10; journal:NEUROLOGY; http://hdl.handle.net/11577/3242500Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85032229798

الإتاحة: https://doi.org/10.1212/WNL.0000000000004570Test
http://hdl.handle.net/11577/3242500Test

المؤلفون: Sandeep Jayawant, Derek Neilson, Andrea H. Németh, Waney Squier, Ravindran Visagan, Geetha Anand, Fintan Sheerin, Saleel Chandratre, Shelley Segal

المصدر: Pediatric Infectious Disease Journal. 34:318-320

مصطلحات موضوعية: Adult, Microbiology (medical), Pathology, medicine.medical_specialty, Recurrent acute necrotizing encephalopathy, DNA Mutational Analysis, Encephalopathy, Influenza A Virus, H1N1 Subtype, Influenza, Human, medicine, Humans, Family history, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, RANBP2 Gene, medicine.disease, Magnetic Resonance Imaging, Leukoencephalitis, Acute Hemorrhagic, Nuclear Pore Complex Proteins, Infectious Diseases, Amino Acid Substitution, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Vomiting, Female, medicine.symptom, business, Molecular Chaperones, Familial acute necrotizing encephalopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bd98375c1810cc5c2397f9987ff0ed8Test
https://doi.org/10.1097/inf.0000000000000533Test