Autor: "Roper, Helen" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Autorzy:: Munot P; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
McCrea N; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Torelli S; UCL, Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health, London, UK.
Manzur A; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Sewry C; Dubowitz Neuromuscular Centre, Division of Neuropathology, UCL Institute of Neurology, London, UK.
Chambers D; Dubowitz Neuromuscular Centre, Division of Neuropathology, UCL Institute of Neurology, London, UK.
Feng L; Dubowitz Neuromuscular Centre, Division of Neuropathology, UCL Institute of Neurology, London, UK.
Ala P; UCL, Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health, London, UK.
Zaharieva I; UCL, Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health, London, UK.
Ragge N; Birmingham Women's and Children's NHS Foundation Hospital Trust, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.
Roper H; Department of Paediatrics, Birmingham Heartlands Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
Marton T; Department of Histopathology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Cox P; Department of Histopathology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Milev MP; Department of Biology, Concordia University, Montreal, Quebec, Canada.
Liang WC; Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Maruyama S; Department of Paediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Centre of Neurology and Psychiatry, Kodaira, Japan.
Sacher M; Department of Biology, Concordia University, Montreal, Quebec, Canada.; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada.
Phadke R; Dubowitz Neuromuscular Centre, Division of Neuropathology, UCL Institute of Neurology, London, UK.; Division of Neuropathology, University College London Hospitals NHS Foundation Trust National Hospital for Neurology and Neurosurgery, London, UK.
Muntoni F; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.; Pokaż więcej
Źródło:: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2022 Feb; Vol. 48 (2), pp. e12771. Date of Electronic Publication: 2021 Nov 11.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Brain/*metabolism
Dystroglycans/*metabolism
Muscle, Skeletal/*metabolism
Muscular Dystrophies/*genetics
Vesicular Transport Proteins/*genetics
Child, Preschool ; Female ; Glycosylation ; Humans ; Infant ; Liver/metabolism ; Male ; Muscular Dystrophies/metabolism ; Mutation ; Vesicular Transport Proteins/metabolism

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 2.

Tytuł:: A Phase 1b Trial to Assess the Pharmacokinetics of Ezutromid in Pediatric Duchenne Muscular Dystrophy Patients on a Balanced Diet.
Autorzy:: Muntoni F; Dubowitz Neuromuscular Centre, University College London Institute of Child Health, London, UK.
Tejura B; Summit Therapeutics, Abingdon, UK.
Spinty S; Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
Roper H; Birmingham Heartlands Hospital, Heart of England NHS Foundation Trust, Birmingham, UK.
Hughes I; Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK.
Layton G; ParamStat Limited, Ash, UK.
Davies KE; MRC Functional Genomics Unit, University of Oxford, Department of Physiology Anatomy and Genetics, Oxford, UK.
Harriman S; Summit Therapeutics, Abingdon, UK.
Tinsley J; Summit Therapeutics, Abingdon, UK.; Pokaż więcej
Źródło:: Clinical pharmacology in drug development [Clin Pharmacol Drug Dev] 2019 Oct; Vol. 8 (7), pp. 922-933. Date of Electronic Publication: 2019 Jan 16.
Typ publikacji:: Clinical Trial, Phase I; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:: Benzoxazoles/*administration & dosage
Benzoxazoles/*pharmacokinetics
Muscular Dystrophy, Duchenne/*drug therapy
Administration, Oral ; Adolescent ; Benzoxazoles/adverse effects ; Child ; Diet ; Double-Blind Method ; Drug Administration Schedule ; Humans ; Male ; Muscular Dystrophy, Duchenne/metabolism ; Suspensions ; Utrophin/antagonists & inhibitors

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 3.

Tytuł:: Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy.
Autorzy:: Ricotti V; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, United Kingdom.
Spinty S; Alder Hey Children's NHS Foundation Trust, Liverpool, United Kingdom.
Roper H; Birmingham Heartlands Hospital, Heart of England NHS Foundation Trust, Birmingham, United Kingdom.
Hughes I; Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, United Kingdom.
Tejura B; Summit Therapeutics, Abingdon, United Kingdom.
Robinson N; S.H.B. Enterprises Limited, Beaconsfield, United Kingdom.
Layton G; ParamStat Limited, Ash, United Kingdom.
Davies K; MRC Functional Genomics Unit, Department of Physiology Anatomy and Genetics, University of Oxford, United Kingdom.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, United Kingdom.
Tinsley J; Summit Therapeutics, Abingdon, United Kingdom.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2016 Apr 07; Vol. 11 (4), pp. e0152840. Date of Electronic Publication: 2016 Apr 07 (Print Publication: 2016).
Typ publikacji:: Clinical Trial, Phase I; Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms:: Benzoxazoles/*administration & dosage
Benzoxazoles/*pharmacokinetics
Muscular Dystrophy, Duchenne/*blood
Muscular Dystrophy, Duchenne/*drug therapy
Utrophin/*metabolism
Benzoxazoles/adverse effects ; Child ; Child, Preschool ; Humans ; Male ; Muscular Dystrophy, Duchenne/pathology

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 4.

Tytuł:: Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Autorzy:: Logan CV
Szabadkai G
Sharpe JA
Parry DA
Torelli S
Childs AM
Kriek M
Phadke R
Johnson CA
Roberts NY
Bonthron DT
Pysden KA
Whyte T
Munteanu I
Foley AR
Wheway G
Szymanska K
Natarajan S
Abdelhamed ZA
Morgan JE
Roper H
Santen GW
Niks EH
van der Pol WL
Lindhout D
Raffaello A
De Stefani D
den Dunnen JT
Sun Y
Ginjaar I
Sewry CA
Hurles M
Rizzuto R
Duchen MR
Muntoni F
Sheridan E; Pokaż więcej
Corporate Authors:: UK10K Consortium
Źródło:: Nature genetics [Nat Genet] 2014 Feb; Vol. 46 (2), pp. 188-93. Date of Electronic Publication: 2013 Dec 15.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Phenotype*
Calcium Signaling/*genetics
Calcium-Binding Proteins/*genetics
Cation Transport Proteins/*genetics
Learning Disabilities/*genetics
Mitochondria/*metabolism
Mitochondrial Membrane Transport Proteins/*genetics
Movement Disorders/*genetics
Muscular Diseases/*genetics
Analysis of Variance ; Base Sequence ; Calcium Channels/metabolism ; Calcium Signaling/physiology ; Calcium-Binding Proteins/metabolism ; Cation Transport Proteins/metabolism ; DNA, Complementary/genetics ; Exome/genetics ; Extrapyramidal Tracts/pathology ; Fluorescent Antibody Technique ; Histological Techniques ; Humans ; Immunohistochemistry ; Membrane Potential, Mitochondrial/genetics ; Mitochondrial Membrane Transport Proteins/metabolism ; Molecular Sequence Data ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Quadriceps Muscle/pathology ; Real-Time Polymerase Chain Reaction ; Sequence Analysis, DNA

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Informacja

Wyszukujesz frazę ""Roper, Helen"" wg kryterium: Autor

Źródło danych

Ogranicz do:

Ogranicz do bazy

Typ dokumentu

Temat

Wydawca

Publikacja

Język