Researchers from Massachusetts General Hospital (MGH) and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia – ...
May 8, 2013
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Researchers from the Germans Trias i Pujol Health Sciences Research Institute Foundation (IGTP), the Bellvitge Biomedical Research Institute (IDIBELL), and the Sant Joan de Déu de Martorell Hospital, has identified a new ...
Apr 29, 2013
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A dysfunction of a certain Calcium channel, the so called P/Q-type channel, in neurons of the cerebellum is sufficient to cause different motor diseases as well as a special type of epilepsy. This is reported by the research ...
Mar 21, 2013
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A research team from the Korea Advanced Institute of Science and Technology (KAIST) released their results on the structure and molecular details of the neurodegenerative disease-associated protein Ataxin-1. Mutations in ...
Mar 14, 2013
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What is the cost of rare diseases such as Friedreich's Ataxia? By analyzing direct and indirect costs of care research in BioMed Central's open access journal Orphanet Journal of Rare Diseases calculated that conservatively ...
Feb 27, 2013
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The family of disorders known as ataxia can impair speech, balance and coordination, and have varying levels of severity. Scientists from the Universities of Oxford and Edinburgh have identified a new member of this group ...
Dec 7, 2012
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Researchers from the Guy Rouleau Laboratory affiliated with the CHUM Research Centre and the CHU–Sainte-Justine Research Centre have discovered the genetic cause of a rare disease reported only in patients originating from ...
Sep 6, 2012
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Better diagnosis and treatment of a crippling inherited nerve disorder may be just around the corner thanks to an international team that spanned Asia, Europe and the United States. The team had been hunting DNA strands for ...
Aug 23, 2012
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A WA study of an isolated population of Eastern European Gypsies known as "Bowlmakers" has unlocked clues about a serious developmental disease - congenital cerebellar ataxia.
Aug 17, 2012
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Scientists from the Institute of Molecular and Cell Biology (IMCB) have discovered a new signalling pathway that controls both obesity and atherosclerosis. The team demonstrated, for the first time, that mice deficient in ...
Jul 3, 2012
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