Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

scientific article published on 4 May 2016

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1027629700
P356DOI10.1186/S13023-016-0436-9
P932PMC publication ID4855324
P698PubMed publication ID27146152

P50authorArnold MunnichQ2863363
Patrick NitschkéQ45929076
Giulia BarciaQ46797447
Laurence ColleauxQ56749298
Melanie ParisotQ92563612
Isabelle DesguerreQ117223359
Cécile MassonQ117252647
Nathalie BoddaertQ28354276
Christine Bôle-FeysotQ28354378
Nadia Bahi-BuissonQ30322447
Vincent CantagrelQ30445548
Karine Siquier-pernetQ43143860
P2093author name stringPatrick Nitschké
Marlène Rio
Hisham Megahed
Michaël Nicouleau
Daniel Medina-Cano
P2860cites workAn unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.Q45959611
Large-scale discovery of novel genetic causes of developmental disordersQ47073693
Posterior fossa imaging in 158 children with ataxia.Q48243588
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhoodQ48959079
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.Q50569035
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar AtrophyQ59545957
Mechanistic Studies of Human Molybdopterin Synthase Reaction and Characterization of Mutants Identified in Group B Patients of Molybdenum Cofactor DeficiencyQ24301344
Mutations in the molybdenum cofactor biosynthetic genesMOCS1, MOCS2, andGEPHQ24302091
Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading framesQ24540134
Fast and accurate short read alignment with Burrows-Wheeler transformQ24653853
Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patientsQ34327249
Exome sequencing in undiagnosed inherited and sporadic ataxiasQ35014864
Exome sequencing can improve diagnosis and alter patient managementQ35641969
Differential diagnosis of cerebellar atrophy in childhoodQ36942291
Neurodegeneration associated with genetic defects in phospholipase A(2).Q37179015
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinosesQ37944570
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.Q39406764
P433issue1
P304page(s)57
P577publication date2016-05-04
P1433published inOrphanet Journal of Rare DiseasesQ15756117
P1476titleUtility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
P478volume11

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cites work (P2860)
Q90345448A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity
Q97425192Genetic background of ataxia in children younger than 5 years in Finland
Q90732192Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia
Q103804117MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
Q64039746Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature
Q58716570Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
Q90626330Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families