Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: c...
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation
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England: BMJ Publishing Group LTD
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Language
English
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England: BMJ Publishing Group LTD
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Background The autosomal-recessive cerebellar ataxias (ARCA) are a clinically and genetically heterogeneous group of neurodegenerative disorders. The large number of ARCA genes leads to delay and difficulties obtaining an exact diagnosis in many patients and families. Ubiquinone (CoQ10) deficiency is one of the potentially treatable causes of ARCAs...
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Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3995328
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3995328
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ISSN
0022-3050,1468-330X
E-ISSN
1468-330X
DOI
10.1136/jnnp-2013-306483
