Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden? (Q90124758)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32144995 AND SRC:MED&resulttype=core&format=json

11 April 2020

title

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

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11 April 2020

main subject

spinal muscular atrophy

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1 reference

Wolfgang Müller-Felber

1

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11 April 2020

Katharina Vill

2

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11 April 2020

Oliver Schwartz

3

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11 April 2020

Dieter Gläser

4

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11 April 2020

Uta Nennstiel

5

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11 April 2020

Brunhilde Wirth

6

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11 April 2020

Siegfried Burggraf

7

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11 April 2020

Wulf Röschinger

8

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11 April 2020

Marc Becker

9

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11 April 2020

Jürgen Durner

10

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11 April 2020

Katja Eggermann

11

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11 April 2020

Christine Müller

12

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11 April 2020

Iris Hannibal

13

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11 April 2020

Bernd Olgemöller

14

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11 April 2020

Ulrike Schara

15

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11 April 2020

Astrid Blaschek

16

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11 April 2020

Heike Kölbel

17

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11 April 2020

publication date

1 January 2020

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Journal of neuromuscular diseases

11 April 2020

published in

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11 April 2020

volume

7

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11 April 2020

issue

2

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11 April 2020

page(s)

109-117

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Creative Commons Attribution-NonCommercial 4.0 International

11 April 2020

copyright license

start time

20 March 2020

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

1 reference

12 December 2020

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

1 reference

12 December 2020

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

1 reference

12 December 2020

Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1.

1 reference

12 December 2020

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.

1 reference

12 December 2020

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

1 reference

12 December 2020

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

1 reference

12 December 2020

Unaffected patients with a homozygous absence of the SMN1 gene

1 reference

12 December 2020

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy

1 reference

12 December 2020

A positive modifier of spinal muscular atrophy in the SMN2 gene

1 reference

12 December 2020

Compound muscle action potential and motor function in children with spinal muscular atrophy

1 reference

12 December 2020

Adherence issues in inherited metabolic disorders treated by low natural protein diets.

1 reference

12 December 2020

How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches

1 reference

12 December 2020

The motor neuron response to SMN1 deficiency in spinal muscular atrophy

1 reference

12 December 2020

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

1 reference

12 December 2020

Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation.

1 reference

12 December 2020

Newborn screening for spinal muscular atrophy: Anticipating an imminent need

1 reference

12 December 2020

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

1 reference

12 December 2020

Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review

1 reference

12 December 2020

Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.

1 reference

12 December 2020

Emerging therapies and challenges in spinal muscular atrophy

1 reference

12 December 2020

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

1 reference

12 December 2020

Adherence to clinic recommendations among patients with phenylketonuria in the United States

1 reference

12 December 2020

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.

1 reference

12 December 2020

Newborn screening for spinal muscular atrophy: The views of affected families and adults.

1 reference

12 December 2020

Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation

1 reference

12 December 2020

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening

1 reference

12 December 2020

Spinal muscular atrophy: A changing phenotype beyond the clinical trials

1 reference

12 December 2020

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

1 reference

12 December 2020

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

1 reference

12 December 2020

Spinal muscular atrophy : Time for newborn screening?

1 reference

12 December 2020

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

1 reference

12 December 2020

Muscle strength and motor function throughout life in a cross- sectional cohort of 180 patients with SMA types 1c-4.

1 reference

12 December 2020

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

1 reference

12 December 2020

Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy.

1 reference

12 December 2020

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

1 reference

12 December 2020

Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy

1 reference

12 December 2020

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

1 reference

12 December 2020

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.

1 reference

12 December 2020

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany.

1 reference

12 December 2020

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

1 reference

12 December 2020

Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain

1 reference

12 December 2020

Prenatal aspects in spinal muscular atrophy: From early detection to early presymptomatic intervention

1 reference

12 December 2020

Newborn screening for SMA in Southern Belgium

1 reference

12 December 2020

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

1 reference

12 December 2020

Discrepancy in redetermination of SMN2 copy numbers in children with SMA

1 reference

12 December 2020

Onasemnogene Abeparvovec: First Global Approval

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives

1 reference

12 December 2020

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

1 reference

12 December 2020

Adeno-associated viral vector-mediated immune responses: Understanding barriers to gene delivery

1 reference

12 December 2020