Posterior fossa imaging in 158??children with ataxia, Journal of Neuroradiology, vol.37, issue.4, pp.220-50, 2010. ,
DOI : 10.1016/j.neurad.2009.12.009
Differential diagnosis of cerebellar atrophy in childhood, European Journal of Paediatric Neurology, vol.12, issue.3, pp.155-67, 2008. ,
DOI : 10.1016/j.ejpn.2007.07.010
Diagnostic Approach to Childhood-Onset Cerebellar Atrophy, Journal of Child Neurology, vol.16, issue.3, pp.1121-1153, 2012. ,
DOI : 10.1177/0883073812448680
-associated neurodegeneration in a large North African cohort, European Journal of Neurology, vol.12, issue.1, pp.178-86, 2015. ,
DOI : 10.1111/ene.12552
URL : https://hal.archives-ouvertes.fr/hal-00357716
Neurodegeneration associated with genetic defects ,
Exome Sequencing Can Improve Diagnosis and Alter Patient Management, Science Translational Medicine, vol.4, issue.138 ,
DOI : 10.1126/scitranslmed.3003544
Fast and accurate short read alignment with Burrows-Wheeler transform, Bioinformatics, vol.25, issue.14, pp.1754-60, 2009. ,
DOI : 10.1093/bioinformatics/btp324
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses, Human Mutation, vol.102, issue.Suppl A, pp.42-63, 2012. ,
DOI : 10.1002/humu.21624
Mutations in the molybdenum cofactor biosynthetic genesMOCS1, MOCS2, andGEPH, Human Mutation, vol.64, issue.6, pp.569-76, 2003. ,
DOI : 10.1002/humu.10223
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood, neurogenetics, vol.15, issue.5, pp.3-4225, 2013. ,
DOI : 10.1007/s10048-013-0375-8
Exome sequencing in undiagnosed inherited and sporadic ataxias, Brain, vol.138, issue.2, pp.276-83, 2015. ,
DOI : 10.1093/brain/awu348
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy, Human Mutation, vol.20, issue.1, pp.69-78, 2015. ,
DOI : 10.1002/humu.22709
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study, The Lancet, vol.386, issue.10007, pp.140-673600124 ,
DOI : 10.1016/S0140-6736(15)00124-5
Mechanistic Studies of Human Molybdopterin Synthase Reaction and Characterization of Mutants Identified in Group B Patients of Molybdenum Cofactor Deficiency, Journal of Biological Chemistry, vol.278, issue.28, pp.26127-26161, 2003. ,
DOI : 10.1074/jbc.M303092200
An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency, Journal of Inherited Metabolic Disease, vol.12, issue.11, pp.560-569, 2009. ,
DOI : 10.1007/s10545-009-1151-7
Human Molybdopterin Synthase Gene: Identification of a Bicistronic Transcript with Overlapping Reading Frames, The American Journal of Human Genetics, vol.64, issue.3, pp.698-705, 1999. ,
DOI : 10.1086/302295