MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

[1] Bamshad MJ(2011)Exome sequencing as a tool for Mendelian disease gene discovery Nat Rev Genet 12 745-755

[2] Ng SB(2012)Disease gene identification strategies for exome sequencing Eur J Hum Genet: EJHG 20 490-497

[3] Bigham AW(2012)Exome sequencing: dual role as a discovery and diagnostic tool Ann Neurol 71 5-14

[4] Tabor HK(2012)Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases Neurology 79 127-131

[5] Emond MJ(2012)Next-generation genetic testing for retinitis pigmentosa Hum Mutat 33 963-972

[6] Nickerson DA(2012)Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis Neurology 79 123-126

[7] Shendure J(2004)Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency Neurology 63 188-189

[8] Gilissen C(2011)AMACR mutations cause late-onset autosomal recessive cerebellar ataxia Neurology 76 1768-1770

[9] Hoischen A(2000)Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy Nat Genet 24 188-191

[10] Brunner HG(2010)Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency Neurology 75 1300-1302

[1] Bamshad MJ(2011)Exome sequencing as a tool for Mendelian disease gene discovery Nat Rev Genet 12 745-755

[2] Ng SB(2012)Disease gene identification strategies for exome sequencing Eur J Hum Genet: EJHG 20 490-497

[3] Bigham AW(2012)Exome sequencing: dual role as a discovery and diagnostic tool Ann Neurol 71 5-14

[4] Tabor HK(2012)Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases Neurology 79 127-131

[5] Emond MJ(2012)Next-generation genetic testing for retinitis pigmentosa Hum Mutat 33 963-972

[6] Nickerson DA(2012)Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis Neurology 79 123-126

[7] Shendure J(2004)Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency Neurology 63 188-189

[8] Gilissen C(2011)AMACR mutations cause late-onset autosomal recessive cerebellar ataxia Neurology 76 1768-1770

[9] Hoischen A(2000)Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy Nat Genet 24 188-191

[10] Brunner HG(2010)Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency Neurology 75 1300-1302