4.5 Article

Views of the General Population on Newborn Screening for Spinal Muscular Atrophy in Japan

Related references

Note: Only part of the references are listed.
Review Neurosciences

In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy

Kristine S. Ojala et al.

Summary: Spinal muscular atrophy (SMA) was previously considered a devastating neuromuscular disease with poor prognosis, but recent advancements in genetically targeted therapies have transformed it into a prototype for monogenic disease treatment, significantly improving quality of life and survival rates for affected individuals.

BRAIN SCIENCES (2021)

Article Genetics & Heredity

The implementation of newborn screening for spinal muscular atrophy: the Australian experience

Didu S. T. Kariyawasam et al.

GENETICS IN MEDICINE (2020)

Article Clinical Neurology

Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?

Wolfgang Mueller-Felber et al.

JOURNAL OF NEUROMUSCULAR DISEASES (2020)

Review Clinical Neurology

Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy

Maria Jedrzejowska

DEGENERATIVE NEUROLOGICAL AND NEUROMUSCULAR DISEASE (2020)

Article Genetics & Heredity

A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study

Masakazu Shinohara et al.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2019)

Article Clinical Neurology

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

Katharina Vill et al.

JOURNAL OF NEUROMUSCULAR DISEASES (2019)

Article Genetics & Heredity

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

Jennifer N. Kraszewski et al.

GENETICS IN MEDICINE (2018)

Article Genetics & Heredity

Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population

Felicity K. Boardman et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2018)

Article Pediatrics

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening

Yin-Hsiu Chien et al.

JOURNAL OF PEDIATRICS (2017)

Article Medicine, General & Internal

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

J. R. Mendell et al.

NEW ENGLAND JOURNAL OF MEDICINE (2017)

Article Medicine, General & Internal

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

R. S. Finkel et al.

NEW ENGLAND JOURNAL OF MEDICINE (2017)

Article Genetics & Heredity

Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy a literature review

Ingrid E. C. Verhaart et al.

ORPHANET JOURNAL OF RARE DISEASES (2017)

Article Clinical Neurology

Willingness to Pay for a Newborn Screening Test for Spinal Muscular Atrophy

Pei-Jung Lin et al.

PEDIATRIC NEUROLOGY (2017)

Article Clinical Neurology

Natural history of infantile-onset spinal muscular atrophy

Stephen J. Kolb et al.

ANNALS OF NEUROLOGY (2017)

Review Clinical Neurology

SPINAL MUSCULAR ATROPHY: DIAGNOSIS AND MANAGEMENT IN A NEW THERAPEUTIC ERA

W. David Arnold et al.

MUSCLE & NERVE (2015)