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Publications by L.R. Simard

Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number

American Journal of Human Genetics

English

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Pathogenesis of Proximal Autosomal Recessive Spinal Muscular Atrophy

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The Impact of Paralog Genes: Detection of Copy Number Variation in Spinal Muscle Atrophy Patients

English

Molecular Analysis of Spinal Muscular Atrophy and Modification of the Phenotype by SMN2

Genetics in Medicine

English

Pnd41 - Healthcare Costs of Patients With Spinal Muscular Atrophy

Value in Health

Occupational Health

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Incidence, Prevalence, and Gene Frequency Studies of Chronic Childhood Spinal Muscular Atrophy.

Journal of Medical Genetics

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Current and Future Treatments of Spinal Muscular Atrophy

Developmental Medicine and Child Neurology

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Spinal Muscular Atrophy Type 1

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Spinal Muscular Atrophy: Development and Implementation of Potential Treatments

Annals of Neurology

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Perspectives and Diagnostic Considerations in Spinal Muscular Atrophy

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