Libby Wood
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View article: Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries
Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries Open
Introduction: Recent evidence demonstrates that women with myotonic dystrophy type 1 are at increased risk of reproductive organ tumors. However, studies of reproductive cancer risk factors in those patients are lacking. Methods:…
View article: Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease Open
The original version of this article [1] unfortunately included an error to an author’s name. Author Jordi Díaz-Manera was erroneously presented as Jorge Alberto Diaz Manera. The correct author name has been included in the author list of …
View article: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease Open
View article: Survival patterns and cancer determinants in families with myotonic dystrophy type 1
Survival patterns and cancer determinants in families with myotonic dystrophy type 1 Open
Background and purpose Research indicates that patients with myotonic dystrophy type 1 ( DM 1) are at increased risk of cancer and early death. Family data may provide insights given DM 1 phenotypic heterogeneity, the broad range of non‐mu…
View article: Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial
Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial Open
View article: RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases Open
View article: Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy Open
Introduction Earlier small case series and clinical observations reported on chronic pain playing an important role in facioscapulohumeral dystrophy (FSHD). The aim of this study was to determine the characteristics and impact of pain on q…
View article: Benign and malignant tumors in the UK myotonic dystrophy patient registry
Benign and malignant tumors in the UK myotonic dystrophy patient registry Open
Introduction In light of recent evidence indicating that cancer is part of the myotonic dystrophy (DM) phenotype, we assessed the prevalence of benign and malignant tumors among 220 patients enrolled in the UK Myotonic Dystrophy Patient Re…
View article: Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy
Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy Open
Understand the occurrence and predictors of respiratory impairment in FSHD. Data from 100 FSHD patients was collected regarding demographics, genetics, respiratory status and pulmonary function tests, clinical manifestations and Clinical S…
View article: The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research Open
View article: Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer Open
Patient registries are an essential tool to increase current knowledge regarding rare diseases. Understanding these data is a vital step to improve patient treatments and to create the most adequate tools for personalized medicine. However…
View article: Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry
Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry Open