المؤلفون: Melissa A Hale, Kameron Bates, Marina Provenzano, Nicholas E Johnson

المصدر: Human Molecular Genetics. 32:1413-1428

مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60620a36c5fb72a4ae0e300817a5832bTest
https://doi.org/10.1093/hmg/ddac254Test

المؤلفون: Nicholas Johnson, Kameron Bates, Han Xie, Lindsay Alfano, John Vissing, Tahseen Mozaffar, Katherine Mathews, Linda Lowes, Matthew Wicklund, Conrad Weihl, Doris Leung, Peter Kang, Carla Zingariello, Urvi Desai, Erin DeSpain, Mary St. Romain, Jeffrey Statland

المصدر: Monday, April 24.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aed3b54778d3f7b5a4fc9d269cf20089Test
https://doi.org/10.1212/wnl.0000000000202947Test

المؤلفون: Joy Stouffer, Kameron Bates, Leroy Thacker, Chad Heatwole, Nicholas Johnson

المصدر: Sunday, April 23.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::885e425eab815c00c9efa7f0332f7345Test
https://doi.org/10.1212/wnl.0000000000203361Test

المؤلفون: Laurel Kovalchick, Matthew Wicklund, Peter B. Kang, Nicholas E. Johnson, Kameron Bates, Linda Lowes, Jeffrey Statland, Chad Heatwole, Volker Straub, Tahseen Mozaffar, C. Weihl

المصدر: Neuromuscular disorders : NMD, vol 32, iss 1
Neuromuscul Disord

مصطلحات موضوعية: Male, Population impact, Medical Physiology, Muscular Dystrophies, Limb-Girdle, Quality of life, 7.1 Individual care needs, Surveys and Questionnaires, Symptom duration, 80 and over, Registries, Muscular Dystrophy, Dysferlin, Genetics (clinical), Aged, 80 and over, education.field_of_study, Muscle Weakness, Middle Aged, Phenotype, Neurology, Calpain-3, Female, medicine.symptom, FKRP, Adult, medicine.medical_specialty, Weakness, Adolescent, Intellectual and Developmental Disabilities (IDD), Population, Clinical Sciences, Patient report, Article, Young Adult, Limb girdle muscular dystrophy, Rare Diseases, Clinical Research, medicine, Lower extremity weakness, Humans, In patient, Patient Reported Outcome Measures, education, Aged, Neurology & Neurosurgery, business.industry, Neurosciences, medicine.disease, Brain Disorders, Muscular Dystrophies, Limb-Girdle, Pediatrics, Perinatology and Child Health, Physical therapy, Quality of Life, Neurology (clinical), Management of diseases and conditions, business, Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bfa3a1af1a54c2763ca51486b0856f1Test
https://escholarship.org/uc/item/71j6q837Test

المؤلفون: Guja Astrea, Kiera Berggren, Jennifer N. Baldwin, Francesca Salmin, Kameron Bates, Nicholas E. Johnson, Jacopo Casiraghi, Kellen H. Quigg, Joshua Burns, Federica Ricci, Adele DʼAmico, Melissa McIntyre, Marnee J. McKay, Craig Campbell, Valeria A. Sansone

المصدر: Paediatrics Publications
Muscle Nerve

مصطلحات موضوعية: Male, 0301 basic medicine, Physiology, Functional testing, mobility measures, 030105 genetics & heredity, Grip strength, Child Development, 0302 clinical medicine, Activities of Daily Living, Myotonic Dystrophy, Child, education.field_of_study, Communication, Motor Skills, Child, Preschool, Cohort, Disease Progression, Female, Six Minute Walk Test, Cohort study, medicine.medical_specialty, Adolescent, congenital myotonic dystrophy, functional outcomes, myotonic dystrophy, Population, Walk Test, Article, Myotonin-Protein Kinase, 03 medical and health sciences, Cellular and Molecular Neuroscience, Physiology (medical), medicine, Humans, Muscle Strength, Social Behavior, education, business.industry, Infant, Newborn, Infant, Vineland Adaptive Behavior Scale, Clinical trial, Physical therapy, Observational study, Neurology (clinical), Trinucleotide Repeat Expansion, business, human activities, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ecefca0967ee8b41a6b80aa26df57b6Test
https://ir.lib.uwo.ca/paedpub/1436Test

المؤلفون: Richard T. Moxley, Nicholas E. Johnson, Heather R. Adams, Elizabeth Luebbe, Anne-Berit Ekström, Craig Campbell, Man Hung, Michael Hunter, Kameron Bates, Jerry Bounsanga, Chad Heatwole

المصدر: Paediatrics Publications

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Activities of daily living, Neuromuscular disease, Adolescent, Gastrointestinal Diseases, Physiology, Pediatric onset, 030105 genetics & heredity, Pediatrics, Myotonic dystrophy, Myotonia, Fingers, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Cost of Illness, Physiology (medical), Activities of Daily Living, Humans, Myotonic Dystrophy, Medicine, Patient Reported Outcome Measures, Mobility Limitation, Young adult, Child, Preschool, Disease burden, Muscle Weakness, business.industry, Communication, Muscle weakness, Hand, medicine.disease, Caregivers, Child, Preschool, Family medicine, Female, Neurology (clinical), medicine.symptom, Deglutition Disorders, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::685238f386b322f3f164e6f9884e67a9Test
https://doi.org/10.1002/mus.26632Test

المؤلفون: Chad Heatwole, Tahseen Mozaffar, Conrad C. Weihl, Linda Lowes, Nicholas E. Johnson, Volker Straub, Peter B. Kang, Katherine D. Mathews, J. Statland, Anthony A. Amato, Kathryn R. Wagner, Kameron Bates

المصدر: Neuromuscular Disorders. 30:S86-S87

مصطلحات موضوعية: Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Limb girdle, Neurology (clinical), Anatomy, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f48d6a4a90b3d9d7f53d782053188efTest
https://doi.org/10.1016/j.nmd.2020.08.140Test