scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1027629700 |
P356 | DOI | 10.1186/S13023-016-0436-9 |
P932 | PMC publication ID | 4855324 |
P698 | PubMed publication ID | 27146152 |
P50 | author | Arnold Munnich | Q2863363 |
Patrick Nitschké | Q45929076 | ||
Giulia Barcia | Q46797447 | ||
Laurence Colleaux | Q56749298 | ||
Melanie Parisot | Q92563612 | ||
Isabelle Desguerre | Q117223359 | ||
Cécile Masson | Q117252647 | ||
Nathalie Boddaert | Q28354276 | ||
Christine Bôle-Feysot | Q28354378 | ||
Nadia Bahi-Buisson | Q30322447 | ||
Vincent Cantagrel | Q30445548 | ||
Karine Siquier-pernet | Q43143860 | ||
P2093 | author name string | Patrick Nitschké | |
Marlène Rio | |||
Hisham Megahed | |||
Michaël Nicouleau | |||
Daniel Medina-Cano | |||
P2860 | cites work | An 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 disorders | Q47073693 | ||
Posterior fossa imaging in 158 children with ataxia. | Q48243588 | ||
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood | Q48959079 | ||
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 Atrophy | Q59545957 | ||
Mechanistic Studies of Human Molybdopterin Synthase Reaction and Characterization of Mutants Identified in Group B Patients of Molybdenum Cofactor Deficiency | Q24301344 | ||
Mutations in the molybdenum cofactor biosynthetic genesMOCS1, MOCS2, andGEPH | Q24302091 | ||
Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames | Q24540134 | ||
Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 | ||
Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients | Q34327249 | ||
Exome sequencing in undiagnosed inherited and sporadic ataxias | Q35014864 | ||
Exome sequencing can improve diagnosis and alter patient management | Q35641969 | ||
Differential diagnosis of cerebellar atrophy in childhood | Q36942291 | ||
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 lipofuscinoses | Q37944570 | ||
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort. | Q39406764 | ||
P433 | issue | 1 | |
P304 | page(s) | 57 | |
P577 | publication date | 2016-05-04 | |
P1433 | published in | Orphanet Journal of Rare Diseases | Q15756117 |
P1476 | title | Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population | |
P478 | volume | 11 |
Q90345448 | A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity |
Q97425192 | Genetic background of ataxia in children younger than 5 years in Finland |
Q90732192 | Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia |
Q103804117 | MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia |
Q64039746 | Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature |
Q58716570 | Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability |
Q90626330 | Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families |