Browse Items (6 total)
- Tags: Muntoni F
Update on the management of Duchenne muscular dystrophy
Tags: 2008, Archives of Disease in Childhood, Backlog, Cardiomyopathy, Dilated/etiology/therapy, Duchenne/complications/diagnosis/genetics/therapy, Dystrophin/genetics, Gene Therapy/methods, Glucocorticoids/therapeutic use, Humans, Journal Article, Kinali M, Male, Manzur AY, Muntoni F, Muscular Dystrophy, Patient Care Team, Physical Therapy Modalities, Respiration Disorders/etiology/therapy, Scoliosis/etiology/therapy
Consensus statement on standard of care for congenital muscular dystrophies
Tags: 2010, Aloysius A, Backlog, Bash RO, Battista V, Bellini J, Beroud C, Bertini E, Bonnemann CG, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Florence JM, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Journal Article, Journal of Child Neurology, Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Quijano-Roy S, Rahbek J, Rutkowski A, Schara U, Schuler PM, Sejersen T, Sewry C, Simonds A, Storhaug K, Tseng B, Vajsar J, Vianello A, Wahbi K, Wang CH, Zeller R
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency
Tags: 2005, Acyl-CoA Dehydrogenase, Andresen BS, Backlog, Bischoff C, Bonham JR, Cardiomyopathies/diagnosis/genetics, Carnitine/analogs & derivatives/metabolism, Chakrapani A, Clark S, Downing M, Exons, Fatty Acids/metabolism, Fibroblasts/metabolism, Gregersen N, Homozygote, Humans, Inborn Errors/diagnosis/genetics, Journal Article, Journal Of Inherited Metabolic Disease, Lipid Metabolism, Long-Chain/deficiency, Longitudinal Studies, Male, Manning NJ, Mitochondria/pathology, Multienzyme Complexes/deficiency, Muntoni F, Mutation, Olpin SE, Olsen RK, Phenotype, Polyneuropathies/diagnosis/genetics, Pourfarzam M, Prognosis, Rhabdomyolysis/diagnosis/genetics, Sharrard M, Turnbull DN
Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study
Tags: 2006, Adolescent Comparative Study Decision Making Disability Evaluation Female Humans Male Muscular Dystrophy, Backlog, Developmental Medicine & Child Neurology, Duchenne/complications Postoperative Period Research Support, Edge G, Journal Article, Kinali M, Lehovsky J, Manzur AY, Mercuri E, Messina S, Muntoni F, Non-U.S. Gov't Retrospective Studies Scoliosis/etiology/surgery/therapy Time Factors Treatment Outcome, PedPal Lit
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis
Tags: 2003, Adams S, American Journal Of Human Genetics, Amino Acid, Amino Acid Sequence, Animals, Arbour L, Atherton DJ, Backlog, Balci S, Base Sequence, Bode H, Campbell ME, DNA Primers, Douglas J, Family, Feingold M, Female, Fibroma/genetics, Futreal PA, Genetic Markers, Gingival Hypertrophy/genetics, Hanks S, Humans, In Situ Hybridization, Journal Article, Keser G, Kleijer W, Male, Mancini G, McGrath JA, Membrane Proteins/genetics, Molecular Sequence Data, Muntoni F, Mutation, Myofibromatosis/genetics, Nanda A, Non-U.S. Gov't, Pedigree, Pope FM, Rahman N, Research Support, Reverse Transcriptase Polymerase Chain Reaction, Sequence Alignment, Sequence Homology, Skin Neoplasms/genetics, Superti-Furga A, Teare MD, Warman M
Psychosocial adjustment in siblings of young people with Duchenne muscular dystrophy
Tags: 2010, Adaptation Psychological, Adolescent, Child, December 2017 List, European Journal of Paediatric Neurology, Female, Garralda ME, Humans, Kinali M, Male, Mental Health, Muntoni F, Muscular Dystrophy Duchenne/px [psychology], Psychiatric Status Rating Scales, Psychology, Read J, Siblings/px [psychology], Surveys And Questionnaires