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Open access

Research article

First published 2024-01-02

Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data

Costanza Cutrona, Roberto de Sanctis, Giorgia Coratti [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2021

Use of the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance

Tina Duong, Gale Harding, Sally Mannix [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2024-2

Onasemnogene Abeparvovec: Post-infusion Efficacy and Safety in Patients With Spinal Muscular Atrophy (SMA)—A Fondazione Policlinico Gemelli IRCCS Experience

Michele Favia, Domenico Tarantino, Lidia Di Cerbo [...]

Hospital Pharmacy

Free access

Research article

First published 2018

Motor Function Test Reliability During the NeuroNEXT Spinal Muscular Atrophy Infant Biomarker Study

Kristin J. Krosschell, Michael Bosch, Leslie Nelson [...]

Journal of Neuromuscular Diseases

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

Retricted access

Review article

First published 2023-02

Onasemnogene Abeparvovec in Type 1 Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis

Carlos Pascual-Morena, Iván Cavero-Redondo, Maribel Lucerón-Lucas-Torres [...]

Human Gene Therapy

Open access

Research article

First published 2018

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany

Astrid Pechmann, Thorsten Langer, David Schorling [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2022-01-04

Quantitative Motion Measurements Based on Markerless 3D Full-Body Tracking in Children with SMA Highly Correlate with Standardized Motor Assessments

Astrid Blaschek, Nikolas Hesse, Birgit Warken [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2018

Evaluator Training and Reliability for SMA Global Nusinersen Trials 1

Allan M. Glanzman, Elena S. Mazzone, Sally Dunaway Young [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2021-03-02

Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated with Nusinersen

Rodrigo de Holanda Mendonça, Graziela Jorge Polido, Matsui Ciro [...]

Journal of Neuromuscular Diseases

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