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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

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 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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Other

First published 2007-08

Spinal Muscular Atrophy Diagnostics

Thomas W. Prior

Journal of Child Neurology

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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

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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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Brief report

First published 2001-03

A Single Strand Conformation Polymorphism-Based Carrier Test for Spinal Muscular Atrophy

Sabrina Semprini, Alessandra Tacconelli, Francesca Capon [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2006-03

Detection of Spinal Muscular Atrophy Carriers by Nested Polymerase Chain Reaction of Single Sperm Cells

Yuval Yaron, Tania Cohen, Nava Mey-Raz [...]

Genetic Testing and Molecular Biomarkers

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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

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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

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