Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to ...

Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature ...

Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a ...

3 Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Canada Correspondence to Dr Nada Jabado, Montreal Children's Hospital Research Institute, 4060 Ste Catherine ...

2 Trinity College Institute of Neuroscience, Trinity College, Dublin, Ireland 3 Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Dublin, Ireland 4 TrinSeq, Institute of Molecular ...

Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia ...

Correspondence to Dr Norbert Weiss, Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Praha 166 10, Czech Republic; weiss{at}uochb.cas.cz; Dr Gerald W Zamponi, Department of ...

1 Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland 2 Department of Pediatric Neurology, Hospital for Children and Adolescents, Helsinki ...

A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death ...

Background A small but significant reduction in left ventricular (LV) mass after 18 months of migalastat treatment has been reported in Fabry disease (FD). This study aimed to assess the effect of ...

Objective: The prevalence and types of various cardiovascular diseases in different age groups as well as the outcomes of cardiac surgery and other interventions were assessed in a population of 75 ...

Correspondence to Lee-Jun C Wong, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA; ljwong{at}bcm.edu Mitochondria are the ...