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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

Retricted access

Research article

First published 2015-3

Association of Copy Numbers of Survival Motor Neuron Gene 2 and Neuronal Apoptosis Inhibitory Protein Gene With the Natural History in a Chinese Spinal Muscular Atrophy Cohort

Yu-jin Qu, Xiu-shan Ge, Jin-li Bai [...]

Journal of Child Neurology

Retricted access

Other

First published 2007-08

Spinal Muscular Atrophy Diagnostics

Thomas W. Prior

Journal of Child Neurology

Open access

Research article

First published 2019

One Year of Newborn Screening for SMA – Results of a German Pilot Project

Katharina Vill, Heike Kölbel, Oliver Schwartz [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2013-4

Homozygous Survival Motor Neuron 2 Gene Deletion and Sporadic Lower Motor Neuron Disease in Children

Lu Liping, Ma Hongwei, Wang Lin

Journal of Child Neurology

Open access

Research article

First published 2024-01-02

Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening

Heike Kölbel, Marius Kopka, Laura Modler [...]

Journal of Neuromuscular Diseases

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

Open access

Review article

First published 2014-08

Assays for the Identification and Prioritization of Drug Candidates for Spinal Muscular Atrophy

Jonathan J. Cherry, Dione T. Kobayashi, Maureen M. Lynes [...]

ASSAY and Drug Development Technologies

Retricted access

Research article

First published 2005-07

In Vitro Restoration of Functional SMN Protein in Human Trophoblast Cells Affected by Spinal Muscular Atrophy by Small Fragment Homologous Replacement

Federica Sangiuolo, Antonio Filareto, Paola Spitalieri [...]

Human Gene Therapy

Open access

Research article

First published 2023-1-3

Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany

Wolfgang Müller-Felber, Astrid Blaschek, Oliver Schwartz [...]

Journal of Neuromuscular Diseases

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