A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes. (Q36969631)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

title

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

facioscapulohumeral muscular dystrophy

3 April 2020

main subject

0 references

author

Giulia Ricci

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Francesco Sera

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Corrado Angelini

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Angela Berardinelli

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Maria Grazia D'Angelo

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Massimiliano Filosto

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Lorenzo Maggi

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Gabriele Siciliano

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

author name string

Lucia Ruggiero

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Liliana Vercelli

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Ana Nikolic

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Monica Govi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Fabiano Mele

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Jessica Daolio

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Giovanni Antonini

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Elisabetta Bucci

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Michelangelo Cao

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Maria Chiara D'Amico

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Antonio Di Muzio

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Lucia Morandi

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Elena Pegoraro

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Carmelo Rodolico

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Lucio Santoro

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Giuliano Tomelleri

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Luisa Villa

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Rossella Tupler

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Maurizio Moggio

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Tiziana Mongini

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

publication date

28 April 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

volume

263

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

page(s)

1204-1214

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

3 April 2020

copyright license

start time

28 April 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Pract

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter 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=4893383

Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Camptocormia as presenting manifestation of a spectrum of myopathic disorders.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Mutation spectrum and phenotypic manifestation in FSHD Greek patients

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Confidence interval of the kappa coefficient by bootstrap resampling.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893383

Lung and respiratory muscle function in facioscapulohumeral muscular dystrophy

4 September 2018

1 reference

12 December 2020

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

1 reference

12 December 2020

Dysphagia in facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Diagnostic criteria for facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

10.1007/S00415-016-8123-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27126453%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

PubMed publication ID

27126453

1 reference