Congenital muscular dystrophy: from muscle to brain (Q27023097)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

review article

2 references

29 April 2021

Congenital muscular dystrophy: from muscle to brain (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

1 reference

29 April 2021

0 references

4 references

13 March 2019

22 April 2019

25 April 2019

12 September 2019

1 reference

12 September 2019

congenital muscular dystrophy

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

author name string

Raffaele Falsaperla

1

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Martino Ruggieri

3

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Enrico Parano

4

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Renata Rizzo

5

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Giovanni Corsello

6

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Giovanna Vitaliti

7

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Andrea D Praticò

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

language of work or name

1 reference

31 August 2016

7 references

13 March 2019

22 April 2019

25 April 2019

12 September 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

29 April 2021

Italian Journal of Paediatrics

7 references

13 March 2019

22 April 2019

25 April 2019

12 September 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

29 April 2021

42

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

issue

1

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

page(s)

78

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

22 March 2020

copyright license

5 references

13 March 2019

22 April 2019

25 April 2019

12 September 2019

on focus list of Wikimedia project

29 April 2021

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

Walker-Warburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Prevalence of congenital muscular dystrophy in Italy: a population study

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Advances in Muscular Dystrophies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Asso

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Congenital myopathies and muscular dystrophies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Diagnostic approach to the congenital muscular dystrophies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

The myotonic dystrophies: molecular, clinical, and therapeutic challenges

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

The ever-expanding spectrum of congenital muscular dystrophies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Defective glycosylation in muscular dystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Congenital muscular dystrophies: clinical review and proposed classification

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Diagnostic criteria for Walker-Warburg syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Ocular findings in Fukuyama type congenital muscular dystrophy

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Ophthalmological findings of muscular dystrophies: a survey of 53 cases

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Hydrocephaly, Congenital Retinal Nonattachment, And Congenital Falciform Fold

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).

31 May 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-016-0289-9

Congenital muscular dystrophies with cognitive impairment. A population study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-016-0289-9

Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-016-0289-9

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-016-0289-9

Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-016-0289-9

Long-term survival in a patient with muscle-eye-brain disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-016-0289-9

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-016-0289-9

Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-016-0289-9

The floppy infant: evaluation of hypotonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-016-0289-9

Neuroimaging manifestations and classification of congenital muscular dystrophies.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Cerebro-oculo-muscular syndrome: a variant of Fukuyama congenital cerebromuscular dystrophy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5006267

Congenital muscular dystrophy: Correlation of muscle biopsy and clinical features

28 November 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-016-0289-9

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

21 January 2018

1 reference

12 December 2020

Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations

1 reference

12 December 2020

Etiology of congenital muscular dystrophy (Fukuyama type)

1 reference

12 December 2020

Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy

1 reference

12 December 2020

10.1186/S13052-016-0289-9

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

22 March 2020

1029018315

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27576556%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

PubMed publication ID

27576556

2 references