Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Exceptions to the Octet Rule

Exceptions to the Octet Rule

Many covalent molecules have central atoms that do not have eight electrons in their Lewis structures. These molecules fall into three categories:

Quantifying Work

Quantifying Work

As a system undergoes a change, its internal energy can change, and energy can be transferred from the system to the surroundings, or from the surroundings to the system.

Seed Structure and Early Development of the Sporophyte

Seed Structure and Early Development of the Sporophyte

Seed structures are composed of a protective seed coat surrounding a plant embryo, and a food store for the developing embryo. The embryo contains the precursor tissues for leaves, stem, and roots. The endosperm and cotyledons—seed leaves—act as the food reserves for the growing embryo.

Calculating Equilibrium Concentrations

Calculating Equilibrium Concentrations

Being able to calculate equilibrium concentrations is essential to many areas of science and technology—for example, in the formulation and dosing of pharmaceutical products. After a drug is ingested or injected, it is typically involved in several chemical equilibria that affect its ultimate concentration in the body system of interest. Knowledge of the quantitative aspects of these equilibria is required to compute a dosage amount that will solicit the desired therapeutic effect.
A more...

First Law of Thermodynamics

First Law of Thermodynamics

Energy Conservation

Molecular Comparison of Gases, Liquids, and Solids

Molecular Comparison of Gases, Liquids, and Solids

Particles in a solid are tightly packed together (fixed shape) and often arranged in a regular pattern; in a liquid, they are close together with no regular arrangement (no fixed shape); in a gas, they are far apart with no regular arrangement (no fixed shape). Particles in a solid vibrate about fixed positions (cannot flow) and do not generally move in relation to one another; in a liquid, they move past each other (can flow) but remain in essentially constant contact; in a gas, they move...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

A decade of disease-modifying therapies for spinal muscular atrophy.

The Lancet. Child & adolescent health·2026

Same author

Inborn errors of immunity in children with neuroinflammation.

Developmental medicine and child neurology·2026

Same author

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Annals of neurology·2026

Same author

The efficacy and safety of ketogenic diet therapy among adolescents and adults with drug resistant epilepsy: A systematic review and meta-analysis.

Seizure·2026

Same author

Identification of prognostic biomarkers in a large cohort of patients with LGMD R2.

Journal of neurology·2026

Same author

Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disorders.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics·2026

Same journal

Clinical outcomes of conservative, endovascular and microsurgical management of unruptured giant intracranial aneurysms: 3-year follow-up of the prospective, multinational Giant Intracranial Aneurysm Registry.

Journal of neurology, neurosurgery, and psychiatry·2026

Same journal

Global epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis.

Journal of neurology, neurosurgery, and psychiatry·2026

Same journal

Diagnostic accuracy of a two-cut-off approach using the FAQ/MMSE ratio and FAQ for clinical preselection of patients for anti-amyloid therapy.

Journal of neurology, neurosurgery, and psychiatry·2026

Same journal

Cancer risk and mortality in patients with multiple sclerosis in Finland: a retrospective population-based cohort study.

Journal of neurology, neurosurgery, and psychiatry·2026

Same journal

Visuospatial working memory in Huntington's disease: behavioural and structural brain correlates.

Journal of neurology, neurosurgery, and psychiatry·2026

Same journal

Characteristics and outcomes in electric scooter-related traumatic brain injuries in Helsinki.

Journal of neurology, neurosurgery, and psychiatry·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Feb 13, 2026

Making Patch-pipettes and Sharp Electrodes with a Programmable Puller

Making Patch-pipettes and Sharp Electrodes with a Programmable Puller

Published on: October 8, 2008

Nusinersen for SMA: expanded access programme.

Michelle A Farrar^1,2, Hooi Ling Teoh^1,2, Kate A Carey^1,2

¹Department of Neurology, Sydney Children's Hospitals Network, Sydney, Australia.

Journal of Neurology, Neurosurgery, and Psychiatry

|March 18, 2018

Summary

This summary is machine-generated.

The first Australian experiences with nusinersen expanded access for spinal muscular atrophy (SMA) type 1 revealed challenges in early diagnosis and evolving clinical care for this motor neuron disorder.

Keywords:

nusinersen spinal muscular atrophy

More Related Videos

Hierarchical and Programmable One-Pot Oligosaccharide Synthesis

Hierarchical and Programmable One-Pot Oligosaccharide Synthesis

Published on: September 6, 2019

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

Related Experiment Videos

Last Updated: Feb 13, 2026

Making Patch-pipettes and Sharp Electrodes with a Programmable Puller

Making Patch-pipettes and Sharp Electrodes with a Programmable Puller

Published on: October 8, 2008

Hierarchical and Programmable One-Pot Oligosaccharide Synthesis

Hierarchical and Programmable One-Pot Oligosaccharide Synthesis

Published on: September 6, 2019

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

Area of Science:

Neurology
Genetics
Pediatrics

Background:

Spinal muscular atrophy (SMA) is a severe motor neuron disease characterized by progressive muscle weakness and respiratory failure.
Nusinersen represents the first disease-modifying therapy for SMA, offering a new treatment avenue.

Purpose of the Study:

To report the initial Australian experiences with an expanded access program (EAP) for nusinersen in infantile-onset SMA type 1.
To assess the feasibility and outcomes of providing preapproval access to nusinersen.

Main Methods:

An Australian multicenter, open-label EAP for nusinersen was conducted from November 2016 to September 2017.
Patients with infantile-onset SMA type 1 received standard care and intrathecal nusinersen.
Clinical, genetic, treatment, and functional motor outcomes were evaluated.

Main Results:

Sixteen of 20 eligible SMA type 1 patients received nusinersen treatment.
Median time to diagnosis was 5.0 months, correlating with age of onset.
Management evolved to include proactive nutritional and respiratory support, with increased decision-making complexity.

Conclusions:

The nusinersen EAP highlighted challenges in early SMA diagnosis and care evolution.
Resource implications and ethical considerations arose during treatment implementation.
These findings are relevant to introducing novel therapeutics in neurological disorders.