High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR

Consolidated principles for screening based on a systematic review and consensus process

(2018) Mark J. Dobrow et al.   CANADIAN MEDICAL ASSOCIATION JOURNAL

RNA-Targeted Therapeutics

(2018) Stanley T. Crooke et al.   Cell Metabolism

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

(2018) Richard S. Finkel et al.   NEUROMUSCULAR DISORDERS

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

(2018) Maite Calucho et al.   NEUROMUSCULAR DISORDERS

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

(2018) Eugenio Mercuri et al.   NEUROMUSCULAR DISORDERS

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

(2018) Eugenio Mercuri et al.   NEW ENGLAND JOURNAL OF MEDICINE

Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China

(2018) Zongjie Hao et al.   PLoS One

New Directions for SMA Therapy

(2018) Sonia Messina   Journal of Clinical Medicine

Novel challenges in spinal muscular atrophy - How to screen and whom to treat?

(2018) Afshin Saffari et al.   Annals of Clinical and Translational Neurology

Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

(2017) Jennifer N Kraszewski et al.   GENETICS IN MEDICINE

A multi-source approach to determine SMA incidence and research ready population

(2017) Ingrid E. C. Verhaart et al.   JOURNAL OF NEUROLOGY

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening

(2017) Yin-Hsiu Chien et al.   JOURNAL OF PEDIATRICS

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2016) Richard S Finkel et al.   LANCET

Spinal Muscular Atrophy

(2015) Stephen J. Kolb et al.   NEUROLOGIC CLINICS

Newborn screening for spinal muscular atrophy: Anticipating an imminent need

(2015) Han C. Phan et al.   SEMINARS IN PERINATOLOGY

Current status of newborn screening worldwide: 2015

(2015) Bradford L. Therrell et al.   SEMINARS IN PERINATOLOGY

Newborn Blood Spot Screening Test Using Multiplexed Real-Time PCR to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

(2014) J. L. Taylor et al.   CLINICAL CHEMISTRY

Cost-Effective and Scalable DNA Extraction Method from Dried Blood Spots

(2013) C. A. Saavedra-Matiz et al.   CLINICAL CHEMISTRY

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

Newborn and carrier screening for spinal muscular atrophy

(2010) Thomas W. Prior et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical Chemistry: Challenges for Analytical Chemistry and the Nanosciences from Medicine

(2009) Jürgen Durner   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Guiding Policy Decisions for Genetic Screening: Developing a Systematic and Transparent Approach

(2009) A. Andermann et al.   Public Health Genomics

Revisting wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

(2008) Anne Andermann   BULLETIN OF THE WORLD HEALTH ORGANIZATION

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE