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Open access

Research article

First published 2022

Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?

Oliver Schwartz, Heike Kölbel, Astrid Blaschek [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2012-4

Identification of Novel Compounds That Increase SMN Protein Levels Using an Improved SMN2 Reporter Cell Assay

Jonathan J. Cherry, Matthew C. Evans, Jake Ni [...]

Journal of Biomolecular Screening

Retricted access

Research article

First published 2019-04

A SMN2 Splicing Modifier Rescues the Disease Phenotypes in an In Vitro Human Spinal Muscular Atrophy Model

Ye Seul Son, Kwangman Choi, Hana Lee [...]

Stem Cells and Development

Free access

Research article

First published 2022

Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?

Astrid Blaschek, Heike Kölbel, Oliver Schwartz [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2020

Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden? 1

Wolfgang Müller-Felber, Katharina Vill, Oliver Schwartz [...]

Journal of Neuromuscular Diseases

Retricted access

Brief report

First published 2012-03

Decreasing Disease Severity in Symptomatic,Smn −/−;SMN2 +/+,Spinal Muscular Atrophy Mice Following scAAV9-SMN Delivery

Jacqueline J. Glascock, Erkan Y. Osman, Mary J. Wetz [...]

Human Gene Therapy

Retricted access

Other

First published 2007-08

SMN Transcript Stability: Could Modulation of Messenger RNA Degradation Provide a Novel Therapy for Spinal Muscular Atrophy?

Christopher R. Heier, Rocky G. Gogliotti, Christine J. DiDonato

Journal of Child Neurology

Retricted access

Research article

First published 2011-09

Accuracy of Marker Analysis,Quantitative Real-Time Polymerase Chain Reaction,and Multiple Ligation-Dependent Probe Amplification to Determine SMN2 Copy Number in Patients with Spinal Muscular Atrophy

Laura Alías, Sara Bernal, Maria J. Barceló [...]

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2024-03-05

Repeated AAV9 Titer Determination in a Presymptomatic SMA Patient with Three SMN2 Gene Copies – A Case Report

Astrid Eisenkölbl, Manuel Pühringer

Journal of Neuromuscular Diseases

Retricted access

Other

First published 2007-08

Spinal Muscular Atrophy Diagnostics

Thomas W. Prior

Journal of Child Neurology

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