Rare diseases

Collectively, rare diseases account for a substantial proportion of the worldwide burden of neurological disease, despite their individual low prevalence. The articles in this series highlight the challenges of studying and treating rare neurological diseases, emphasizing the importance of international and multidisciplinary collaboration to foster interactions between patients, clinicians, researchers and advocacy groups.


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2017

Advance online publication (17th March 2017)

Multiple system atrophy: insights into a rare and debilitating movement disorder

Florian Krismer, & Gregor K. Wenning

doi:10.1038/nrneurol.2017.26

January 2017 Volume 13 No 1

Clinical and biological progress over 50 years in Rett syndrome

Helen Leonard, Stuart Cobb & Jenny Downs

doi:10.1038/nrneurol.2016.186

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2016

October 2016 Volume 12 No 10

Angelman syndrome — insights into a rare neurogenetic disorder

Karin Buiting, Charles Williams & Bernhard Horsthemke

doi:10.1038/nrneurol.2016.133

July 2016 Volume 12 No 7

Skeletal muscle disorders of glycogenolysis and glycolysis

Richard Godfrey & Ros Quinlivan

doi:10.1038/nrneurol.2016.75

May 2016 Volume 12 No 5

Limb-girdle muscular dystrophies — international collaborations for translational research

Rachel Thompson & Volker Straub

doi:10.1038/nrneurol.2016.35

April 2016 Volume 12 No 4

Rare neurological channelopathies — networks to study patients, pathogenesis and treatment

Joanna C. Jen, Tetsuo Ashizawa, Robert C. Griggs & Michael F. Waters

doi:10.1038/nrneurol.2016.18