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1. 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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2. Full Text Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due toMTM1mutations
by Bachmann, Christoph and Jungbluth, Heinz and Muntoni, Francesco and Manzur, Adnan Y and Zorzato, Francesco and Treves, Susan
Human Molecular Genetics, ISSN 0964-6906, 12/2016, p. ddw388
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3. 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 (Online), ISSN 1469-493X, 2008, Issue 1, p. CD003725
Background Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy of childhood. This incurable disease is characterised by muscle wasting and... 
Glucocorticoids [adverse effects; therapeutic use] | Muscular dystrophy, duchenne [drug therapy] | Prednisolone [therapeutic use] | Prednisone [therapeutic use] | Adrenal cortex hormones [adverse effects; therapeutic use] | CONTROLLED-TRIAL | MOLECULAR SIGNATURE | MEDICINE, GENERAL & INTERNAL | SKELETAL-MUSCLE CELLS | DEFLAZACORT TREATMENT | ENMC INTERNATIONAL WORKSHOP | DOUBLE-BLIND | DEFICIENT MDX MICE | HOME NOCTURNAL VENTILATION | LONG-TERM BENEFIT | PREDNISONE THERAPY | 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
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4. 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
Cochrane Database of Systematic Reviews, ISSN 1469-493X, 05/2016, Volume 2016, Issue 5, p. CD003725
Background Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy of childhood. Untreated, this incurable disease, which has an X-linked... 
AMERICAN ACADEMY | CONTROLLED-TRIAL | LOW-DOSAGE | Humans | Male | Adrenal Cortex Hormones [adverse effects; therapeutic use] | Randomized Controlled Trials as Topic | Walking | MEDICINE, GENERAL & INTERNAL | Glucocorticoids [adverse effects; therapeutic use] | PREDNISONE TREATMENT | Prednisolone [therapeutic use] | Prednisone [therapeutic use] | DEFLAZACORT TREATMENT | GLYCOPROTEIN COMPLEX | DOUBLE-BLIND | Muscular Dystrophy, Duchenne [drug therapy] | MOLECULAR PATHOGENESIS | Pregnenediones [therapeutic use] | STEROID-THERAPY | LONG-TERM TREATMENT | Glucocorticoids - administration & dosage | Glucocorticoids - therapeutic use | Muscular Dystrophy, Duchenne - drug therapy | Pregnenediones - administration & dosage | Adrenal Cortex Hormones - therapeutic use | Pregnenediones - therapeutic use | Adrenal Cortex Hormones - adverse effects | Quality of Life | Muscle Strength - drug effects | Prednisolone - therapeutic use | Glucocorticoids - adverse effects | Prednisone - therapeutic use | Adrenal Cortex Hormones - administration & dosage
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5. 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 & Psychiatry, ISSN 0022-3050, 06/2013, Volume 84, Issue 6, pp. 698 - 705
Objective To assess the current use of glucocorticoids (GCs) in Duchenne muscular dystrophy in the UK, and compare the benefits and the adverse events of daily... 
SURGERY | BONE-MINERAL DENSITY | PSYCHIATRY | WEEKEND | CLINICAL NEUROLOGY | TRIAL | DOUBLE-BLIND | DEFLAZACORT | STAR AMBULATORY ASSESSMENT | OUTCOMES | HEALTH | CORTICOSTEROID TREATMENT | PREDNISONE THERAPY | 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
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6. 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, ISSN 0006-8950, 10/2007, Volume 130, Issue 10, pp. 2725 - 2735
Muscular dystrophies with reduced glycosylation of α-dystroglycan (α-DG), commonly referred to as dystroglycanopathies, are a heterogeneous group of autosomal... 
Limb girdle muscular dystrophy | Glycosylation | Congenital muscular dystrophy | Glycosyltransferase | Alpha dystroglycan | ALPHA-DYSTROGLYCAN | alpha dystroglycan | MENTAL-RETARDATION | WALKER-WARBURG-SYNDROME | FUKUTIN | glycosylation | PROTEIN GENE | limb girdle muscular dystrophy | EYE-BRAIN DISEASE | POMGNT1 | NEUROSCIENCES | CLINICAL NEUROLOGY | congenital muscular dystrophy | ABNORMAL GLYCOSYLATION | glycosyltransferase | SPECTRUM | FKRP GENE-MUTATIONS | 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
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7. Full Text Congenital myopathies: Natural history of a large pediatric cohort
by Colombo, Irene and Scoto, Mariacristina and Manzur, Adnan Y and Robb, Stephanie A and Maggi, Lorenzo and Gowda, Vasantha and Cullup, Thomas and Yau, Michael and Phadke, Rahul and Sewry, Caroline and Jungbluth, Heinz and Muntoni, Francesco
Neurology, ISSN 0028-3878, 01/2015, Volume 84, Issue 1, pp. 28 - 35
OBJECTIVE:To assess the natural history of congenital myopathies (CMs) due to different genotypes. METHODS:Retrospective cross-sectional study based on... 
NEMALINE MYOPATHY | DISTAL MYOPATHY | GENOTYPE-PHENOTYPE CORRELATIONS | NEUROMUSCULAR DISORDERS | NEBULIN GENE | FOLLOW-UP | MUTATIONS | MUSCLE ALPHA-ACTIN | LINKED MYOTUBULAR MYOPATHY | CLINICAL NEUROLOGY | CENTRAL CORE DISEASE | Myopathies, Nemaline - genetics | Humans | Middle Aged | Child, Preschool | Respiratory Insufficiency - etiology | Infant | Male | Myopathies, Structural, Congenital - genetics | Myopathies, Structural, Congenital - complications | Myopathies, Nemaline - pathology | Young Adult | Mobility Limitation | Adult | Deglutition Disorders - etiology | Female | Retrospective Studies | Child | Myopathy, Central Core - genetics | Infant, Newborn | Cross-Sectional Studies | Scoliosis - etiology | Muscle Proteins - genetics | Myopathies, Nemaline - complications | Myopathy, Central Core - pathology | Adolescent | Myopathies, Structural, Congenital - pathology | Myopathy, Central Core - complications | Consanguinity | Muscle, Skeletal - pathology | Cohort Studies | 176 | 185 | 227
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8. Full Text Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?
by Alshaikh, Nahla and Brunklaus, Andreas and Davis, Tracey and Robb, Stephanie A and Quinlivan, Ros and Munot, Pinki and Sarkozy, Anna and Muntoni, Francesco and Manzur, Adnan Y and Dubowitz Neuromuscular Team
Archives of Disease in Childhood, ISSN 0003-9888, 10/2016, Volume 101, Issue 10, pp. 957 - 961
AimAssessment of the efficacy of vitamin D replenishment and maintenance doses required to attain optimal levels in boys with Duchenne muscular dystrophy... 
Neurology | Neuromuscular | General Paediatrics | Nutrition | Paediatric Practice | Muscular Dystrophy, Duchenne - drug therapy | Humans | Vitamin D Deficiency - drug therapy | Child, Preschool | Male | Treatment Outcome | Adrenal Cortex Hormones - therapeutic use | Vitamins - therapeutic use | Case-Control Studies | Vitamin D - blood | Dose-Response Relationship, Drug | Adolescent | Vitamin D - analogs & derivatives | Retrospective Studies | Vitamin D - therapeutic use | Child | Dietary Supplements | Index Medicus | Abridged Index Medicus
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9. Full Text Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations
by Bachmann, Christoph and Jungbluth, Heinz and Muntoni, Francesco and Manzur, Adnan Y and Zorzato, Francesco and Treves, Susan
Human Molecular Genetics, ISSN 0964-6906, 2017, Volume 26, Issue 2, pp. 320 - 332
Centronuclear myopathies are early-onset muscle diseases caused by mutations in several genes including MTM1, DNM2, BIN1, RYR1 and TTN. The most severe and... 
SKELETAL-MUSCLE | GENE | CENTRONUCLEAR MYOPATHY | PHOSPHATASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | AUTOSOMAL-DOMINANT | PROTEIN ABUNDANCE | CONGENITAL MYOPATHIES | SARCOPLASMIC-RETICULUM | TRANSCRIPTION FACTOR | Histone Deacetylases - biosynthesis | Ryanodine Receptor Calcium Release Channel - biosynthesis | Calcium - metabolism | Humans | Child, Preschool | Infant | Male | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Female | Child | Infant, Newborn | Histone Deacetylases - genetics | Gene Expression Regulation | Repressor Proteins - genetics | Zebrafish | Mice, Knockout | Animals | Repressor Proteins - biosynthesis | Ryanodine Receptor Calcium Release Channel - genetics | Biopsy | Myopathies, Structural, Congenital - pathology | Mice | MicroRNAs - genetics | Myopathies, Structural, Congenital - metabolism | Muscle, Skeletal - pathology | Mutation
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10. Full Text Update on the management of Duchenne muscular dystrophy
by Manzur, A Y and Kinali, M and Muntoni, F
Archives of Disease in Childhood, ISSN 0003-9888, 11/2008, Volume 93, Issue 11, pp. 986 - 990
Duchenne muscular dystrophy (DMD) is familiar to paediatricians as the most common childhood muscular dystrophy and leads to severe disability and early death... 
SURVIVAL | PERINDOPRIL | AMPLIFICATION | GENE | DISEASE | PEDIATRICS | RANDOMIZED CONTROLLED-TRIAL | MUSCLE BIOPSY | MUTATIONS | CORTICOSTEROID TREATMENT | HOME NOCTURNAL VENTILATION | Scoliosis - therapy | Glucocorticoids - therapeutic use | Respiration Disorders - etiology | Humans | Patient Care Team | Male | Muscular Dystrophy, Duchenne - complications | Respiration Disorders - therapy | Scoliosis - etiology | Cardiomyopathy, Dilated - etiology | Dystrophin - genetics | Physical Therapy Modalities | Muscular Dystrophy, Duchenne - genetics | Muscular Dystrophy, Duchenne - therapy | Cardiomyopathy, Dilated - therapy | Genetic Therapy - methods | Muscular Dystrophy, Duchenne - diagnosis | Practice guidelines (Medicine) | Evaluation | Development and progression | Care and treatment | Duchenne muscular dystrophy | Proteins | Genes | Rodents | Genetic engineering | Mutation | Family medical history | Kinases | Patients | Muscular dystrophy
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11. 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 Robb, S and Quinlivan, R and Sarkozy, A and Butler, J and Bushby, K and Straub, V and Guglieri, M and Eagle, M and Roper, H and McMurchie, H and Childs, A and Pysden, K and Pallant, L and Spinty, S and Peachey, G and Shillington, A and Wraige, E and Jungbluth, H and Sheehan, J and Spahr, R and Hughes, I and Bateman, E and Cammiss, C and Willis, T and Groves, L and Emery, N and Baxter, P and Senior, M and Scott, E and Hartley, L and Parsons, B and Majumdar, A and Jenkins, L and Toms, B and Naismith, K and Keddie, A and Horrocks, I and Di Marco, M and Chow, G and Miah, A and De Goede, C and Thomas, N and Geary, M and Palmer, J and White, C and Greenfield, K and Wilson, I 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
Objective With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this... 
SURGERY | THERAPY | GLUCOCORTICOIDS | 6-MINUTE WALK TEST | PSYCHIATRY | PTC124 | BOYS | RESTORATION | NATURAL-HISTORY | CLINICAL NEUROLOGY | 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 | Mutation | Standards | Age | Data bases | Muscular dystrophy | MUSCULAR DYSTROPHY | 1506 | Neuromuscular
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12. Full Text Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene‐associated myopathies
by Klein, Andrea and Lillis, Suzanne and Munteanu, Iulia and Scoto, Mariacristina and Zhou, Haiyan and Quinlivan, Ros and Straub, Volker and Manzur, Adnan Y and Roper, Helen and Jeannet, Pierre‐Yves and Rakowicz, Wojtek and Jones, David Hilton and Jensen, Uffe Birk and Wraige, Elizabeth and Trump, Natalie and Schara, Ulrike and Lochmuller, Hanns and Sarkozy, Anna and Kingston, Helen and Norwood, Fiona and Damian, Maxwell and Kirschner, Janbernd and Longman, Cheryl and Roberts, Mark and Auer‐Grumbach, Michaela and Hughes, Imelda and Bushby, Kate and Sewry, Caroline and Robb, Stephanie and Abbs, Stephen and Jungbluth, Heinz and Muntoni, Francesco
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 981 - 988
Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital myopathies associated with both dominant and recessive inheritance. Histopathological... 
RYR1 | phenotype | core myopathies | genotype | congenital myopathy | Core myopathies | Congenital myopathy | Ryr1 | Genotype | Phenotype | MULTI-MINICORE DISEASE | SKELETAL-MUSCLE | KING-DENBOROUGH-SYNDROME | CONGENITAL NEUROMUSCULAR DISEASE | UNIFORM TYPE-1 FIBER | RECESSIVE RYR1 MUTATIONS | MALIGNANT HYPERTHERMIA SUSCEPTIBILITY | GENETICS & HEREDITY | TERMINAL TRANSMEMBRANE REGION | COMMON-CAUSE | CENTRAL CORE DISEASE | Humans | Child, Preschool | Infant | Male | Myopathies, Structural, Congenital - genetics | Genes, Recessive | Genes, Dominant | Ryanodine Receptor Calcium Release Channel - genetics | Pedigree | Female | Mutation | Child | Infant, Newborn
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13. Full Text Retrospective natural history of thymidine kinase 2 deficiency
by Garone, Caterina and Taylor, Robert W and Nascimento, Andrés and Poulton, Joanna and Fratter, Carl and Domínguez-González, Cristina and Evans, Julie C and Loos, Mariana and Isohanni, Pirjo and Suomalainen, Anu and Ram, Dipak and Hughes, M Imelda and McFarland, Robert and Barca, Emanuele and Lopez Gomez, Carlos and Jayawant, Sandeep and Thomas, Neil D and Manzur, Adnan Y and Kleinsteuber, Karin and Martin, Miguel A and Kerr, Timothy and Gorman, Grainne S and Sommerville, Ewen W and Chinnery, Patrick F and Hofer, Monika and Karch, Christoph and Ralph, Jeffrey and Cámara, Yolanda and Madruga-Garrido, Marcos and Domínguez-Carral, Jana and Ortez, Carlos and Emperador, Sonia and Montoya, Julio and Chakrapani, Anupam and Kriger, Joshua F and Schoenaker, Robert and Levin, Bruce and Thompson, John L P and Long, Yuelin and Rahman, Shamima and Donati, Maria Alice and DiMauro, Salvatore and Hirano, Michio
Journal of Medical Genetics, ISSN 0022-2593, 08/2018, Volume 55, Issue 8, pp. 515 - 521
BackgroundThymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and... 
metabolic disorders | neuromuscular disease | muscle disease | clinical genetics | MITOCHONDRIAL-DNA DEPLETION | SPINAL MUSCULAR-ATROPHY | TK2 GENE | DEFECT | GENETICS & HEREDITY | MYOPATHIC FORM | PATIENT | MTDNA DEPLETION | MUTATIONS | SPECTRUM | DELETIONS | Clinical trials | Nervous system | Mitochondrial DNA | Thymidine | Peripheral neuropathy | Literature reviews | Wheelchairs | Fibroblasts | Electromyography | Children | Matrix protein | Natural history | Age | Deoxyribonucleic acid--DNA | Thymidine kinase | Enzymes | Phenotypes | Thymine | Survival | Patients | Studies | Neurology | Ostomy | Ventilation | Mutation | Genetic testing | Myopathy | 1506
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