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Publications by Declan O’ Rourke
P496 X- Linked Infantile Spinal Muscular Atrophy (Smax2) Caused by Novel C.1681g>a Substitution in the Uba1 Gene, Expanding the Phenotype
GP227 Clinical Spectrum of Classical Galactosaemia Associated With Friedreich’s Ataxia in a Paediatric Cohort in the Republic of Ireland – An Update
Related publications
A Pathogenic Missense Variant (C.1617G>A, p.Met539Ile) in UBA1 Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2)
Frontiers in Pediatrics
Child Health
Pediatrics
Perinatology
Rare Missense and Synonymous Variants in UBE1 Are Associated With X-Linked Infantile Spinal Muscular Atrophy
American Journal of Human Genetics
Genetics
Molecular Analysis of Spinal Muscular Atrophy and Modification of the Phenotype by SMN2
Genetics in Medicine
Medicine
Genetics
Novel Therapeutic Strategies for Spinal Muscular Atrophy
Future Neurology
Neurology
Infantile and Early Childhood Onset of Mitochondrial Myopathy Due to Mutations in the TK2 Gene With a Phenotype of Spinal Muscular Atrophy 5q: The First Cases in Russia
Nervno-Myshechnye Bolezni
Neurology
Erratum: Corrigendum: Reduced Transcriptional Regulatory Competence of the Androgen Receptor in X–linked Spinal and Bulbar Muscular Atrophy
Nature Genetics
Genetics
Dystrophic Phenotype of Canine X-Linked Muscular Dystrophy Is Mitigated by Adenovirus-Mediated Utrophin Gene Transfer
Gene Therapy
Molecular Medicine
Genetics
Molecular Biology
Two Brothers With Very Late Onset of Muscle Weakness in X-Linked Recessive Spinal and Bulbar Muscular Atrophy
Clinical Neurology
Neurology
An Atypical Phenotype of Macular and Peripapillary Retinal Atrophy Caused by a Mutation in the RP2 Gene
British Journal of Ophthalmology
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
