Motor kinesins are a family of evolutionary conserved proteins involved in intracellular trafficking of various cargoes, first described in the context of axonal transport. They were discovered to ...

Correspondence to G Beunders, Department of Clinical Genetics, VU University Medical Center Amsterdam, Reception D, De Boellelaan 1117, Amsterdam 1081 HV, The Netherlands; g.beunders{at}vumc.nl ...

1 Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK 2 Department of Dermatology, Royal Victoria Infirmary, Queen Victoria Road, Newcastle ...

* Department of Paediatrics, Faculty of Medicine, National University of Singapore, Lower Kent Ridge Road, Singapore 119074, Republic of Singapore † National University Medical Institutes, Faculty of ...

*Department of Medical Genetics, Haartman Institute, PO Box 21 (Haartmaninkatu 3), FIN-00014 University of Helsinki, Helsinki, Finland †Finnish Genome Centre, PO Box 21 (Tukholmankatu 2), FIN-00014 ...

*Department of Clinical Genetics, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands †Department of Clinical Genetics, Erasmus University Medical Centre Rotterdam, ...

3 Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK Methods An international group of experts created ...

Background Parkinson’s disease (PD) is a neurodegenerative disorder with complex genetic architecture. Besides rare mutations in high-risk genes related to monogenic familial forms of PD, multiple ...

Correspondence to Dr Adriana M Montaño, Doisy Research Center, Department of Pediatrics, Saint Louis University, 1100 South Grand Blvd., Room 311, St. Louis, MO 63104, USA; montana{at}slu.edu ...

1 Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China Correspondence to Yulan Lu, Children's Hospital & ...

Background Familial haemophagocytic lymphohistiocytosis (FHL) is a rare immune deficiency with uncontrolled inflammation; the clinical course usually starts within the first years of life, and is ...

1 Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA 2 Surgical ...