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Publications by Maria Emilia Franchi

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance

Pediatric Neurology

Developmental Neuroscience

English

Related publications

Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia

English

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree With Dominant Axonal Charcot-Marie-Tooth Disease

American Journal of Human Genetics

English

Notch Signaling Mediates Astrocyte Abnormality in Spinal Muscular Atrophy Model Systems

Scientific Reports

Multidisciplinary

English

Spinal Muscular Atrophy With Preserved Deep Tendon Reflexes

Indian Journal of Pediatrics

English

Spinal Muscular Atrophy Diagnosis and Carrier Screening From Genome Sequencing Data

Genetics in Medicine

English

Exome Sequencing Identifies a Novel SMCHD1 Mutation in Facioscapulohumeral Muscular Dystrophy 2

Neuromuscular Disorders

English

Pnd41 - Healthcare Costs of Patients With Spinal Muscular Atrophy

Value in Health

Occupational Health

English

Estimation of the Quality of Life Benefits Associated With Treatment for Spinal Muscular Atrophy

ClinicoEconomics and Outcomes Research

English

Lumbar Spinal Stenosis Associated With Progression of Locomotive Syndrome and Lower Extremity Muscle Weakness

Clinical Interventions in Aging

English