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Research article

First published 2015-4

Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1

Hamid Ganji, Nayereh Nouri, Mansoor Salehi [...]

Journal of Child Neurology

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Research article

First published 2014-08

Subtle Mutation Detection of SMN1 Gene in Chinese Spinal Muscular Atrophy Patients: Implication of Molecular Diagnostic Procedure for SMN1 Gene Mutations

Jin-Li Bai, Yu-Jin Qu, Yan-Yan Cao [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2009-04

A Duplex Allele-Specific Amplification PCR to Detect SMN1 Deletion

Patrícia de Campos Pieri, Jeronimo de Alencar Nogueira, Maria Joaquina Marques-Dias [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2009-02

A Simple Multiplex Real-Time PCR Methodology for the SMN1 Gene Copy Number Quantification

Nadia Passon, Federico Pozzo, Cristiano Molinis [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2009-08

False Homozygous Deletions of SMN1 Exon 7 Using Dra I PCR-RFLP Caused by a Novel Mutation in Spinal Muscular Atrophy

Seong-Ho Kang, Sung Im Cho, Jong-Hee Chae [...]

Genetic Testing and Molecular Biomarkers

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Other

First published 2007-08

Spinal Muscular Atrophy Diagnostics

Thomas W. Prior

Journal of Child Neurology

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Research article

First published 2004-3

Congenital Club Foot with Survival of Motor Neuron 1,Telomeric ( SMN1 ) Gene Deletion

Bernard Echenne, François Rivier, Agathe Roubertie [...]

Journal of Child Neurology

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Research article

First published 2011-10

Diagnosis of Spinal Muscular Atrophy Via High-Resolution Melting Analysis Symmetric Polymerase Chain Reaction Without Probe: A Screening Evaluation for SMN1 Deletions and Intragenic Mutations

Satoru Morikawa, Indra Sari Kusuma Harahap, Richard Hideki Kaszynski [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2022-02

Biodistribution and Tolerability of AAV-PHP.B-CBh- SMN1 in Wistar Han Rats and Cynomolgus Macaques Reveal Different Toxicologic Profiles

Xavier Palazzi, Ingrid D. Pardo, Madhu P. Sirivelu [...]

Human Gene Therapy

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Other

First published 2007-08

Spinal Muscular Atrophy: Clinical Classification and Disease Heterogeneity

Barry S. Russman

Journal of Child Neurology

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