Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK)

Evidence-based path to newborn screening for duchenne muscular dystrophy

(2012) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

High levels of brain-type creatine kinase activity in human platelets and leukocytes: A genetic anomaly with autosomal dominant inheritance

(2011) Heidwolf Arnold et al.   BLOOD CELLS MOLECULES AND DISEASES

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

(2011) Sebahattin Cirak et al.   LANCET

Weekend high-dosage prednisone: A new option for treatment of Duchenne muscular dystrophy

(2011) R. T. Moxley et al.   NEUROLOGY

INTERVIEWS WITH PARENTS OF BOYS SUFFERING FROM DUCHENNE MUSCULAR DYSTROPHY

(2010) Melinda Firth et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening

(2010) Yvonne Bombard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)

(2009) Emma Ciafaloni et al.   JOURNAL OF PEDIATRICS

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

(2009) Katharine Bushby et al.   LANCET NEUROLOGY