Evidence map›Paper›PMID 25346245›Full record

ReviewMuscle & nerve2015

Spinal muscular atrophy: diagnosis and management in a new therapeutic era.

W David Arnold, Darine Kassar, John T Kissel

Registry-linked trialOpen access · greenAbstract readReview
In one paragraph

Review in Muscle & nerve, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05589987 (Community's Participation of Children With Spinal Muscular Atrophy Using Power Mobility), which is not on this map. Cited by 181 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
181citing papers in PubMed, 1 pooled it
7.0field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT05589987 naunknown statusnot on this mapstarted 2022, after this paper: background citation

Community's Participation of Children With Spinal Muscular Atrophy Using Power Mobility

TypeinterventionalSponsorUniversity of Castilla-La ManchaRan2022 to 2024Enrolled20ConditionsSpinal Muscular AtrophyArmspower mobility
3 · Its place in the literature

Who cites it

181 citing papers in PubMed, 1 synthesis or guideline pooled it, 427 citations in OpenAlex.

  1. Pooled it
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  7. A Single-Tube Nested PCR Method forMethods and protocols · 2026
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121 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

W David ArnoldDivision of Neuromuscular Disorders, Department of Neurology, Wexner Medical Center, The Ohio State University, 395 West 12th Avenue, Columbus, Ohio, 43210, USA; Department of Physical Medicine and Rehabilitation, Wexner Medical Center, The Ohio State University, Columbus, Ohio, USA.
Darine Kassar
John T Kissel
The Ohio State University Wexner Medical Center · US

Funding

Rehabilitation Medicine Scientist Training (RMST) ProgramK12HD001097 · NICHD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI BONINGER, MICHAEL L. · 1995 to 2016
$14.1M
NICHD NIH HHS 5K12HD001097-17NICHD NIH HHS K12 HD001097
6 · The paper itself

Abstract

Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor neuron loss. In this review we provide an update regarding the most common form of SMA, proximal or 5q-SMA, and discuss the contemporary approach to diagnosis and treatment. Electromyography and muscle biopsy features of denervation were once the basis for diagnosis, but molecular testing for homozygous deletion or mutation of the SMN1 gene allows efficient and specific diagnosis. In combination with loss of SMN1, patients retain variable numbers of copies of a second similar gene, SMN2, which produces reduced levels of the survival motor neuron (SMN) protein that are insufficient for normal motor neuron function. Despite the fact that understanding of how ubiquitous reduction of SMN protein leads to motor neuron loss remains incomplete, several promising therapeutics are now being tested in early-phase clinical trials.

Indexed as

DNA, AntisenseElectromyographyGenetic TherapyHumansMuscular Atrophy, SpinalSurvival of Motor Neuron 1 ProteinDNA, AntisenseSMN1 protein, humanSurvival of Motor Neuron 1 Proteinantisenseelectromyographygene therapySMN1spinal muscular atrophy

Identifiers

PMID25346245
PMCPMC4293319
OpenAlexW1702490096

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.