Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR

Single-Tube Multiplex Digital Polymerase Chain Reaction Assay for Molecular Diagnosis and Prediction of Severity of Spinal Muscular Atrophy

(2022) Chianru Tan et al.   ANALYTICAL CHEMISTRY

Comprehensive analysis of spinal muscular atrophy (CASMA): SMN1 copy number, intragenic mutation and 2 + 0 carrier analysis by third-generation sequencing

(2022) Shuyuan Li et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Spinal muscular atrophy

(2022) Eugenio Mercuri et al.   Nature Reviews Disease Primers

Novartis Confirms Deaths of Two Patients Treated with Gene Therapy Zolgensma

(2022) Alex Philippidis   HUMAN GENE THERAPY

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

(2021) Deborah L. Stabley et al.   NEUROGENETICS

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

(2021) Basil T. Darras et al.   NEW ENGLAND JOURNAL OF MEDICINE

2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report

(2021) Na Xi et al.   World Journal of Clinical Cases

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

(2021) Eugenio Mercuri et al.   LANCET NEUROLOGY

Risdiplam: new opportunities but more to be done

(2021) Valeria A Sansone   LANCET NEUROLOGY

Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study

(2020) Tim Hagenacker et al.   LANCET NEUROLOGY

SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the “2+0” genotype

(2020) Ahmet Cevdet Ceylan et al.   NEUROLOGICAL SCIENCES

Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant Women

(2020) Jingjing Zhang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study

(2020) Sumin Zhao et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

(2016) Richard S Finkel et al.   LANCET

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands

(2015) Richard Finkel et al.   NEUROMUSCULAR DISORDERS

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

(2014) Hamid Ganji et al.   JOURNAL OF CHILD NEUROLOGY

An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy

(2013) Minjie Luo et al.   GENETICS IN MEDICINE

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

(2011) Elaine A Sugarman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

(2008) Laura Alías et al.   HUMAN GENETICS