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

Pediatric Neurology - United States
doi 10.1016/j.pediatrneurol.2014.09.003
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Elsevier BV

Related search

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

Genome Biology
2011English

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

American Journal of Human Genetics
Genetics
2011English

Notch Signaling Mediates Astrocyte Abnormality in Spinal Muscular Atrophy Model Systems

Scientific Reports
Multidisciplinary
2019English

Spinal Muscular Atrophy With Preserved Deep Tendon Reflexes

Indian Journal of Pediatrics
Child HealthPediatricsPerinatology
2017English

Spinal Muscular Atrophy Diagnosis and Carrier Screening From Genome Sequencing Data

Genetics in Medicine
MedicineGenetics
2020English

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

Neuromuscular Disorders
Child HealthNeurologyPediatricsPerinatologyGenetics
2013English

Pnd41 - Healthcare Costs of Patients With Spinal Muscular Atrophy

Value in Health
MedicineHealth PolicyPublic HealthOccupational HealthEnvironmental
2018English

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

ClinicoEconomics and Outcomes Research
Health PolicyEconomicsEconometricsFinance
2019English

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

Clinical Interventions in Aging
MedicineGerontologyGeriatrics
2019English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy