(Q37339701)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

intermediate spinal muscular atrophy

22 January 2020

main subject

spinal muscular atrophy

1 reference

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

author name string

Petra Kaufmann

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Michael P McDermott

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Richard Finkel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Peter Kang

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Maryam Oskoui

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Andrei Constantinescu

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Douglas Michael Sproule

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

A Reghan Foley

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Michele Yang

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Rabi Tawil

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Wendy Chung

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Bill Martens

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Jacqueline Montes

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Jessica O'Hagen

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Sally Dunaway

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Jean M Flickinger

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Janet Quigley

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Susan Riley

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Allan M Glanzman

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Maryjane Benton

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Patricia A Ryan

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Carrie Irvine

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Christine L Annis

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Hailly Butler

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Jayson Caracciolo

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Megan Montgomery

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Jonathan Marra

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Benjamin Koo

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Darryl C De Vivo

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Muscle Study Group

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

language of work or name

1 reference

14 February 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

published in

Archives of Neurology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

volume

68

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

page(s)

779-786

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

Phase II open label study of valproic acid in spinal muscular atrophy

22 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

The changing natural history of spinal muscular atrophy type 1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Perspectives on clinical trials in spinal muscular atrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Detection of preclinical motor neurone loss in SOD1 mutation carriers using motor unit number estimation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Population frequencies of inherited neuromuscular diseases—A world survey

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Correlation between severity and SMN protein level in spinal muscular atrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

The neurobiology of childhood spinal muscular atrophy.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Height prediction from ulna length

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Outcome measures for pediatric spinal muscular atrophy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Spinal muscular atrophy type 1: management and outcomes.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

The SMN genes are subject to transcriptional regulation during cellular differentiation

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Pulmonary function between 6 and 18 years of age.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Chaos in the classification of SMA: a possible resolution.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839315

Pulmonary manifestations of neuromuscular disease

2 September 2018

1 reference

12 December 2020

Classification of spinal muscular atrophies

1 reference

12 December 2020

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

1 reference

12 December 2020

Epidemiology of neuromuscular disorders in the under-20 population in Bologna province, Italy

1 reference

12 December 2020

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

1 reference

12 December 2020

Function changes in spinal muscular atrophy II and III. The DCN/SMA Group

1 reference

12 December 2020

A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients

1 reference

12 December 2020

[Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases)]

1 reference

12 December 2020

The gross motor function measure™ is a valid and sensitive outcome measure for spinal muscular atrophy

1 reference

12 December 2020

Natural history of SMA IIIb: muscle strength decreases in a predictable sequence and magnitude

1 reference

12 December 2020

10.1001/ARCHNEUROL.2010.373

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320981%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

PubMed publication ID

21320981

1 reference