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1. Full Text Glucocorticoid corticosteroids for Duchenne muscular dystrophy
by Manzur, A.Y and Kuntzer, T and Pike, M and Swan, A
Cochrane database of systematic reviews, ISSN 1469-493X, 2008, Issue 1, pp. CD003725 - CD003725
Glucocorticoids [adverse effects; therapeutic use] | Muscular dystrophy, duchenne [drug therapy] | Prednisolone [therapeutic use] | Prednisone [therapeutic use] | Adrenal cortex hormones [adverse effects; therapeutic use] | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Adrenal Cortex Hormones - adverse effects | Walking | Glucocorticoids - therapeutic use | Muscular Dystrophy, Duchenne - drug therapy | Humans | Male | Prednisolone - therapeutic use | Adrenal Cortex Hormones - therapeutic use | Glucocorticoids - adverse effects | Prednisone - therapeutic use | Pregnenediones - therapeutic use | Randomized Controlled Trials as Topic | Index Medicus
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2. Full Text Corticosteroids for the treatment of Duchenne muscular dystrophy
by Matthews, Emma and Brassington, Ruth and Kuntzer, Thierry and Jichi, Fatima and Manzur, Adnan Y and Matthews, Emma
Cochrane library, ISSN 1469-493X, 05/2016, Volume 2016, Issue 6, pp. CD003725 - CD003725
Muscle Diseases | Pregnenediones | Glucocorticoids | Adrenal Cortex Hormones | Prednisone | Randomized Controlled Trials as Topic | Walking | Neurology | Duchenne muscular dystrophy | Child health | Quality of Life | Muscular dystrophies | Muscle disease | Muscular Dystrophy, Duchenne | Medicine General & Introductory Medical Sciences | Muscle Strength | Prednisolone | Corticosteroid treatment | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Glucocorticoids - administration & dosage | Glucocorticoids - therapeutic use | Muscular Dystrophy, Duchenne - drug therapy | Humans | Pregnenediones - administration & dosage | Male | Adrenal Cortex Hormones - therapeutic use | Pregnenediones - therapeutic use | Adrenal Cortex Hormones - adverse effects | Muscle Strength - drug effects | Prednisolone - therapeutic use | Glucocorticoids - adverse effects | Prednisone - therapeutic use | Adrenal Cortex Hormones - administration & dosage | Index Medicus
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3. Full Text Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy
by Ricotti, Valeria and Ridout, Deborah A and Scott, Elaine and Quinlivan, Ros and Robb, Stephanie A and Manzur, Adnan Y and Muntoni, Francesco and NorthStar Clinical Network and Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Trust, London and on behalf of the NorthStar Clinical Network
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 06/2013, Volume 84, Issue 6, pp. 698 - 705
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Prednisolone - adverse effects | Glucocorticoids - administration & dosage | Glucocorticoids - therapeutic use | Prednisolone - administration & dosage | Prospective Studies | Drug Administration Schedule | Muscular Dystrophy, Duchenne - drug therapy | Humans | Child, Preschool | Male | Treatment Outcome | Adolescent | Prednisolone - therapeutic use | Child | Glucocorticoids - adverse effects | Body mass index | Usage | Care and treatment | Corticosteroids | Diagnosis | Duchenne muscular dystrophy | Index Medicus
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4. Full Text Cellular, Biochemical and Molecular Changes in Muscles from Patients with X-Linked Myotubular Myopathy due to MTM1 Mutations
by Treves, Susan and Bachmann, Christoph and Jungbluth, Heinz and Muntoni, Francesco and Manzur, Adnan Y and Zorzato, Francesco
Biophysical journal, ISSN 0006-3495, 02/2017, Volume 112, Issue 3, pp. 161a - 161a
Health aspects | Children
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5. Full Text Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
by Godfrey, Caroline and Clement, Emma and Mein, Rachael and Brockington, Martin and Smith, Janine and Talim, Beril and Straub, Volker and Robb, Stephanie and Quinlivan, Ros and Feng, Lucy and Jimenez-Mallebrera, Cecilia and Mercuri, Eugenio and Manzur, Adnan Y and Kinali, Maria and Torelli, Silvia and Brown, Susan C and Sewry, Caroline A and Bushby, Kate and Topaloglu, Haluk and North, Kathryn and Abbs, Stephen and Muntoni, Francesco
Brain (London, England : 1878), ISSN 0006-8950, 10/2007, Volume 130, Issue 10, pp. 2725 - 2735
Limb girdle muscular dystrophy | Glycosylation | Congenital muscular dystrophy | Glycosyltransferase | Alpha dystroglycan | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Muscular Dystrophies - metabolism | Membrane Proteins - genetics | Humans | Child, Preschool | Dystroglycans - metabolism | N-Acetylglucosaminyltransferases - genetics | Infant | Male | Mannosyltransferases - genetics | Muscular Dystrophies - genetics | Phenotype | Muscular Dystrophies, Limb-Girdle - metabolism | DNA Mutational Analysis | Muscular Dystrophies, Limb-Girdle - genetics | Dystroglycans - genetics | Mutation | Cohort Studies | Index Medicus | Abridged Index Medicus
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6. Full Text The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials
by Ricotti, Valeria and Ridout, Deborah A and Pane, Marika and Main, Marion and Mayhew, Anna and Mercuri, Eugenio and Manzur, Adnan Y and Muntoni, Francesco and UK NorthStar Clinical Network and on behalf of UK NorthStar Clinical Network
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 02/2016, Volume 87, Issue 2, pp. 149 - 155
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Glucocorticoids - therapeutic use | Follow-Up Studies | Exons | Muscular Dystrophy, Duchenne - drug therapy | Humans | Genotype | Male | United Kingdom | Disease Progression | Young Adult | Walking | Gene Deletion | Adolescent | Age of Onset | Anti-Inflammatory Agents - therapeutic use | Italy | Clinical Trials as Topic - standards | Muscular Dystrophy, Duchenne - genetics | Child | Early Diagnosis | Research Design | Cohort Studies | Muscular Dystrophy, Duchenne - diagnosis | Usage | Care and treatment | Corticosteroids | Duchenne muscular dystrophy | Clinical trials | Dosage and administration | Management | Emergency medical services | Studies | Biomedical research | Databases | Mutation | Standards | Age | Muscular dystrophy | Index Medicus | MUSCULAR DYSTROPHY | 1506 | Neuromuscular
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7. Full Text Diagnosis and new treatments in muscular dystrophies
by Manzur, A Y and Muntoni, F
Postgraduate medical journal, ISSN 0032-5473, 11/2009, Volume 85, Issue 1009, pp. 622 - 714
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | General aspects | Muscular Dystrophies, Limb-Girdle - diagnosis | Muscular Dystrophies - therapy | Sleep Apnea Syndromes - etiology | Muscular Dystrophies, Limb-Girdle - therapy | Humans | Treatment Outcome | Muscular Dystrophies - complications | Adrenal Cortex Hormones - therapeutic use | Muscular Dystrophies - genetics | Physical Therapy Modalities | Adult | Muscular Dystrophies - diagnosis | Muscular Dystrophy, Duchenne - therapy | Child | Muscular Dystrophies - physiopathology | Sleep Apnea Syndromes - therapy | Muscular Dystrophy, Duchenne - diagnosis | Development and progression | Care and treatment | Genetic aspects | Diagnosis | Muscular dystrophy | Complications and side effects | Becker muscular dystrophy | Duchenne muscular dystrophy | Index Medicus
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8. Full Text Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy
by O’Connor, Emer and Vandrovcova, Jana and Bugiardini, Enrico and Chelban, Viorica and Manole, Andreea and Davagnanam, Indran and Wiethoff, Sarah and Pittman, Alan and Lynch, David S and Efthymiou, Stephanie and Marino, Silvia and Manzur, Adnan Y and Roberts, Mark and Hanna, Michael G and Houlden, Henry and Matthews, Emma and Wood, Nicholas W
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 11/2018, Volume 89, Issue 11, pp. 1230 - 1232
neuropathy | cerebellar ataxia | cerebellar degeneration | genetics | neurogenetics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Spinal cord | Gait | Peripheral neuropathy | Patients | DNA repair | Atrophy | Genotype & phenotype | Brain research | Infertility | Ataxia | Mutation | Chromosomes | Deoxyribonucleic acid--DNA | 1506 | PostScript
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9. Full Text Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms
by Matthews, Emma and Silwal, Arpana and Sud, Richa and Hanna, Michael G and Manzur, Adnan Y and Muntoni, Francesco and Munot, Pinki
The Journal of pediatrics, ISSN 0022-3476, 09/2017, Volume 188, pp. 181 - 185.e6
periodic paralysis | myotonia | strabismus | gait | cramps | Life Sciences & Biomedicine | Pediatrics | Science & Technology | Channelopathies - complications | Airway Obstruction | Humans | Child, Preschool | Infant | Male | Absenteeism | Gait Disorders, Neurologic | Respiratory Sounds - etiology | Muscle Hypotonia - etiology | Channelopathies - diagnosis | Muscle Cramp - etiology | Female | Myotonic Disorders - diagnosis | Retrospective Studies | Child | Infant, Newborn | Strabismus - etiology | Myotonic Disorders - genetics | NAV1.4 Voltage-Gated Sodium Channel - genetics | Scoliosis - etiology | Adolescent | Sodium Channels - genetics | Diplopia - etiology | Contracture - etiology | Medicine, Experimental | Muscles | Medical research | Research institutes | Children's hospitals | Children | Paralysis | Health aspects | Diseases | Index Medicus | Abridged Index Medicus
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