Genomic Analysis of a Spinal Muscular Atrophy (SMA) Discordant Family Identifies a Novel Mutation in TLL2, an Activator of Growth Differentiation Factor 8 (Myostatin): A Case Report

BMC Medical Genetics - United Kingdom
doi 10.1186/s12881-019-0935-3
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

Springer Science and Business Media LLC

Related search

A Novel Case Report of Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy From Iran

International Medical Case Reports Journal
Medicine
2019English

Cost of Illness of Spinal Muscular Atrophy (SMA) in Italy

Global and Regional Health Technology Assessment
Health Policy
2019English

Disrupted Transforming Growth Factor- Signaling in Spinal and Bulbar Muscular Atrophy

Journal of Neuroscience
Neuroscience
2010English

Combined Spinal-Epidural Anesthesia in a Patient With Spinal Muscular Atrophy Type II Undergoing Cesarean Section: A Case Report

Vojnosanitetski Pregled
MedicinePharmacology
2018English

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

Neuromuscular Disorders
Child HealthNeurologyPediatricsPerinatologyGenetics
2013English

Novel Therapeutic Strategies for Spinal Muscular Atrophy

Future Neurology
Neurology
2015English

The Effect of Two Different Aerobic Training Modalities in a Child With Spinal Muscular Atrophy Type II: A Case Report

Journal of Exercise Rehabilitation
Physical TherapySports TherapyOrthopedicsSports MedicineRehabilitation
2019English

Spinal Muscular Atrophy Astrocytes Exhibit Abnormal Calcium Regulation and Reduced Growth Factor Production

GLIA
Molecular NeuroscienceNeurologyCellular
2013English

Protein Expression Changes in Spinal Muscular Atrophy Revealed With a Novel Antibody Array Technology

Brain
MedicineNeurology
2003English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy