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المؤلفون: Katelyn Zumpf, Kristin J. Krosschell, Michael Kiefer, Elise L. Townsend, Sarah D Simeone, Kathryn J. Swoboda, Leah J. Welty
المصدر: Neuromuscul Disord
مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Spinal Muscular Atrophies of Childhood, Article, Cohort Studies, Muscular Atrophy, Spinal, Young Adult, Physical medicine and rehabilitation, medicine, Humans, Longitudinal Studies, Child, Genetics (clinical), business.industry, Spinal muscular atrophy, Anthropometry, medicine.disease, SMA, Preferred walking speed, Natural history, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Ambulatory, Cohort, Neurology (clinical), business, Natural history study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b96e07678fac983a4bd50e055a81ad89Test
https://doi.org/10.1016/j.nmd.2021.08.010Test -
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المؤلفون: Ulla Werlauff, Nanna Witting, Pernille Diemer Hansen, John Vissing
المصدر: Journal of Neuromuscular Diseases. 8:647-655
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Muscle Proteins, Gene mutation, Cohort Studies, Young Adult, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, Internal medicine, Genotype, medicine, Humans, Respiratory function, 030212 general & internal medicine, business.industry, Middle Aged, medicine.disease, Congenital myopathy, Natural history, DNM2, Phenotype, Neurology, Mutation, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Natural history study, Follow-Up Studies, Myopathies, Structural, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::072933db9560b930d7fab5c00bd95a10Test
https://doi.org/10.3233/jnd-200574Test -
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المؤلفون: Margaret Fink, Carsten G. Bönnemann, Gina Norato, Diana Bharucha-Goebel, Sandra Donkervoort, A. Reghan Foley, G. Averion, Victoria Biancavilla, Sarah Debs, Dimah Saade, Eduardo Paredes, Ying Hu, Minal S. Jain, Rupleen Kaur, Wadih M. Zein, Diane Armao, M. Waite, Steven J. Gray, Tanya J. Lehky
المصدر: Brain
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Cross-sectional study, Disease, Cohort Studies, Young Adult, medicine, Humans, Child, Giant axonal neuropathy, Clinical pathology, business.industry, Gigaxonin, Original Articles, medicine.disease, Natural history, Cross-Sectional Studies, Giant Axonal Neuropathy, Child, Preschool, Cohort, Female, Neurology (clinical), business, Natural history study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd1db4ed000f65c170b9dd66f4963050Test
https://doi.org/10.1093/brain/awab179Test -
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المؤلفون: J. Chad Hoyle, S. H. Subramony, John M. Flynn, Theresa A. Zesiewicz, Louise A. Corben, Christian Rummey, Katherine D. Mathews, George Wilmot, Lauren Seeberger, Antoine Duquette, David A. Lynch, Grace Yoon, Khalaf Bushara, Richard Roxburgh, Martin B. Delatycki, Susan Perlman, Christopher M. Gomez
المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1239-1250 (2021)مصطلحات موضوعية: 0301 basic medicine, Adult, Pediatrics, medicine.medical_specialty, Ataxia, Adolescent, Neurosciences. Biological psychiatry. Neuropsychiatry, Scoliosis, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Prevalence, Humans, Longitudinal Studies, Age of Onset, RC346-429, Child, Research Articles, business.industry, General Neuroscience, Incidence (epidemiology), Middle Aged, medicine.disease, Comorbidity, Natural history, 030104 developmental biology, Friedreich Ataxia, Cohort, Disease Progression, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, Age of onset, business, 030217 neurology & neurosurgery, Natural history study, RC321-571, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3033a09bc54dc45180d9480c5edd3dd6Test
http://europepmc.org/articles/PMC8164850Test -
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المؤلفون: Travis M. Dumont, Jens R. Chapman, R. John Hurlbert, Angelica Alvarez Reyes, Mauricio J. Avila, Wyatt L. Ramey
المصدر: World Neurosurgery. 156:e235-e242
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Cord, Adolescent, Sensation, Walking, Central Cord Syndrome, Sensitivity and Specificity, Upper Extremity, Young Adult, Injury Severity Score, Humans, Medicine, Muscle Strength, Spinal cord injury, Spinal Cord Injuries, Aged, Retrospective Studies, Aged, 80 and over, medicine.diagnostic_test, business.industry, Urinary retention, Medical record, Magnetic resonance imaging, Middle Aged, Urinary Retention, Decompression, Surgical, Central cord syndrome, medicine.disease, Magnetic Resonance Imaging, Surgery, Natural history, Spinal Cord, Female, Neurology (clinical), medicine.symptom, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2bcb46ecead84c33ca28a0e36025418Test
https://doi.org/10.1016/j.wneu.2021.09.037Test -
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المؤلفون: Rani H. Singh, Aileen Kenneson
المصدر: Molecular Genetics and Metabolism. 134:243-249
مصطلحات موضوعية: Adult, Male, Medical food, Pediatrics, medicine.medical_specialty, Low protein, Adolescent, Phenylalanine hydroxylase, Phenylalanine, Endocrinology, Diabetes and Metabolism, Comorbidity, Biochemistry, Young Adult, Endocrinology, Phenylketonurias, Genetics, medicine, Humans, Registries, Child, Molecular Biology, Newborn screening, biology, business.industry, Incidence (epidemiology), Infant, Newborn, Dietary management, Infant, Middle Aged, United States, Diet, Natural history, Nutrition Assessment, Child, Preschool, biology.protein, Anxiety, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dcea0e766a85a04569bc0733e11b0fbTest
https://doi.org/10.1016/j.ymgme.2021.10.001Test -
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المؤلفون: Rossella Sica, Laura Penta, Sara Riccioni, Alberto Verrotti, Giuseppe Di Cara, Serena Pennoni
المصدر: World Journal of Gastroenterology
مصطلحات موضوعية: medicine.medical_specialty, Adolescent, Coronavirus disease 2019 (COVID-19), Multisystem inflammatory syndrome, Intensive care, Pandemic, medicine, Humans, Child, Intensive care medicine, Letter to the Editor, Pandemics, Ultrasonography, Gastrointestinal tract, medicine.diagnostic_test, SARS-CoV-2, business.industry, Gastroenterology, COVID-19, General Medicine, medicine.disease, Systemic Inflammatory Response Syndrome, Gastrointestinal Tract, Natural history, Systemic inflammatory response syndrome, Clinical research, Liver, Abdominal ultrasonography, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b320055618de83b7003a620b6624eb1Test
https://doi.org/10.3748/wjg.v27.i40.7000Test -
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المؤلفون: Joseph Girgis, Davide Martino, Tamara Pringsheim
المصدر: Developmental Medicine & Child Neurology. 64:488-494
مصطلحات موضوعية: Male, Tic disorder, Pediatrics, medicine.medical_specialty, Adolescent, Comorbidity, Logistic regression, Severity of Illness Index, Developmental Neuroscience, mental disorders, medicine, Humans, Child, Depression (differential diagnoses), Depressive Disorder, Major, business.industry, Odds ratio, medicine.disease, Confidence interval, Natural history, Cross-Sectional Studies, Attention Deficit Disorder with Hyperactivity, Tic Disorders, Pediatrics, Perinatology and Child Health, Tics, Major depressive disorder, Anxiety, Female, Neurology (clinical), medicine.symptom, business, Tourette Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9056711313d5409e47ef6f20de4c6431Test
https://doi.org/10.1111/dmcn.15088Test -
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المؤلفون: John W. Day, Mar Tulinius, Alan Pestronk, Tina Duong, Tulio E. Bertorini, Alberto Dubrovsky, Nanette C. Joyce, Anne M. Connolly, Hanna Kolski, Lauren P. Morgenroth, Hoda Abdel-Hamid, Ksenija Gorni, Craig M. McDonald, Erik K Henricson, Erik Landfeldt, Yoram Nevo, Jose Carlo, Sherilyn W. Driscoll, Laura McAdam, S. Chidambaranathan, Paula R. Clemens, Avital Cnaan, Jean Teasley, W. Douglas Biggar, Joel Iff, Andrew J. Kornberg, Nancy L. Kuntz, E. Henricson, Jean K. Mah, Carolina Tesi-Rocha, Robert T. Leshner, Mathula Thangarajh, Richard D. Webster, V. Vishwanathan, Monique M. Ryan, John B. Bodensteiner, Timothy Lotze, Richard T. Abresch, Peter I. Karachunski
المصدر: Value Health
مصطلحات موضوعية: medicine.medical_specialty, Neuromuscular disease, Adolescent, Psychometrics, Duchenne muscular dystrophy, Population, Pediatrics, Article, Quality of life, Surveys and Questionnaires, medicine, Humans, Child, education, education.field_of_study, Rasch model, business.industry, Health Policy, Public Health, Environmental and Occupational Health, medicine.disease, Muscular Dystrophy, Duchenne, Child, Preschool, Quality of Life, Physical therapy, Patient-reported outcome, business, Natural history study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd36dd2d6151eb55eab84c122ed70a8Test
https://doi.org/10.1016/j.jval.2021.05.016Test -
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المؤلفون: André S. Bachmann, Jeremy W. Prokop, Julianne Michael, Caleb P. Bupp, Surender Rajasekaran, Katharina Steindl, Floris C. Hofstede, Ruben Kuzniecky, Mark H. Lipson, Elizabeth VanSickle, Anita Rauch
المصدر: American Journal of Medical Genetics Part A. 185:3485-3493
مصطلحات موضوعية: Adult, Male, Eflornithine, Adolescent, Developmental Disabilities, Neuroimaging, Bioinformatics, Mitochondrial Membrane Transport Proteins, Ornithine decarboxylase, Young Adult, Seizures, Polyamines, Genetics, medicine, Humans, Rare syndrome, Genetic Predisposition to Disease, Child, Gene, Genetics (clinical), Dicarboxylic Acid Transporters, business.industry, Infant, Newborn, Macrocephaly, Brain, Infant, Alopecia, Phenotype, Megalencephaly, Natural history, Child, Preschool, Female, medicine.symptom, business, Biochemical mechanism
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc1a04702b62cfc654c5e7641c0ac6a5Test
https://doi.org/10.1002/ajmg.a.62473Test