(Q36856405)

16 August 2017

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study (English)

1 reference

16 August 2017

0 references

spinal muscular atrophy

1 reference

1 reference

16

Sonia Messina

1 reference

16 August 2017

Emanuela Abiusi

7

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Gessica Vasco

Gessica Vasco

13

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Cristina Montomoli

Cristina Montomoli

20

0 references

Renato Mantegazza

Renato Mantegazza

23

0 references

Giuseppe Vita

Giuseppe Vita

14

0 references

Corrado Angelini

Corrado Angelini

8

0 references

Tiziana Mongini

11

Tiziana Mongini

1 reference

16 August 2017

Francesco D Tiziano

1

1 reference

16 August 2017

Rosa Lomastro

2

1 reference

16 August 2017

Lorena Di Pietro

3

1 reference

16 August 2017

Maria Barbara Pasanisi

4

1 reference

16 August 2017

Stefania Fiori

5

1 reference

16 August 2017

Carla Angelozzi

6

1 reference

16 August 2017

Gianni Sorarù

9

1 reference

16 August 2017

Alessandra Gaiani

10

1 reference

16 August 2017

Liliana Vercelli

12

1 reference

16 August 2017

Gian Luca Vita

15

1 reference

16 August 2017

Luisa Politano

17

1 reference

16 August 2017

Luigia Passamano

18

1 reference

16 August 2017

Grazia Di Gregorio

19

1 reference

16 August 2017

Chiara Orsi

21

1 reference

16 August 2017

Angela Campanella

22

1 reference

16 August 2017

Lucia Morandi

24

1 reference

16 August 2017

17 October 2012

1 reference

European Journal of Human Genetics

16 August 2017

1 reference

16 August 2017

21

1 reference

16 August 2017

6

1 reference

16 August 2017

630-636

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.233

16 August 2017

0 references

cites work

Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Therapeutic developments in spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

A positive modifier of spinal muscular atrophy in the SMN2 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Daily salbutamol in young patients with SMA type II

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Issues in SMA clinical trial design. The International Coordinating Committee (ICC) for SMA Subcommittee on SMA Clinical Trial Design

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

The survival motor neuron protein in spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Correlation between severity and SMN protein level in spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Identification and characterization of a spinal muscular atrophy-determining gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Low bone mineral density in spinal muscular atrophy

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Reliability of hand-held dynamometry in spinal muscular atrophy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658179

Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops: TREAT-NMD/ENMC Workshop on outcome measures, 12th–13th May 2007, Naarden, The Netherlands; TREAT-NMD Workshop on outcome measures in exper

20 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.233

Bone mineral density in a paediatric spinal muscular atrophy population

21 January 2018

1 reference

12 December 2020

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

1 reference

12 December 2020

Walking capacity evaluated by the 6-minute walk test in spinal and bulbar muscular atrophy

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

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

1 reference

12 December 2020

Classification of spinal muscular atrophies

1 reference

12 December 2020

Intrarater reliability of manual muscle test (Medical Research Council scale) grades in Duchenne's muscular dystrophy

1 reference

12 December 2020

SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis

1 reference

12 December 2020

PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.233

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2012.233

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

23073312

1 reference