(Q37063440)

18 August 2017

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients (English)

1 reference

18 August 2017

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Chiara Fiorillo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Francesca Magri

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Guja Astrea

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Alessandra Ruggieri

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Dario Ronchi

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Giorgio Tasca

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Veer Singh Marwah

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Giulio Piluso

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Carmelo Rodolico

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Sonia Messina

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Massimiliano Filosto

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Marina Mora

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Lorenzo Maggi

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Sabrina Sacconi

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Kathleen Claes

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Jan L De Bleecker

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Enrico Bertini

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Eugenio Mercuri

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Corrado Angelini

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Filippo Maria Santorelli

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Giacomo P Comi

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Vincenzo Nigro

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

27

Olimpia Musumeci

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

50

Elena Pegoraro

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

6

Marina Fanin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

55

Luisa Politano

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

3

Annalaura Torella

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

7

Lucia Ruggiero

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

30

Anni Evilä

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

47

Bjarne Udd

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

42

Tiziana Mongini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

21

Simone Sampaolo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

20

Teresa Giugliano

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Giuseppina Di Fruscio

2

object named as

Giuseppina Di Fruscio

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

10

Luigia Passamano

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

15

Sandra Janssens

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

16

Olimpia Farina

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

19

Arcomaria Garofalo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

23

Gaia Esposito

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

25

Paola D'Ambrosio

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

31

Peter Hackman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

34

Gabriele Siciliano

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

39

Lucio Santoro

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

41

Liliana Vercelli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

author name string

Adele D'Amico

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Margherita Mutarelli

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Francesca Del Vecchio Blanco

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Roberta Petillo

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Giuseppe Di Iorio

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Carlo Minetti

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Enzo Ricci

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Francesca Gualandi

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Rossella Tupler

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Antonio Toscano

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Claudio Bruno

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Giulia Ricci

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Maurizio Moggio

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

language of work or name

English

0 references

publication date

8 June 2016

1 reference

18 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

87

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

page(s)

71-76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

8 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

A community-based resource for automatic exome variant-calling and annotation in Mendelian 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=4932234

Duchenne and Becker muscular dystrophies.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Genetic basis of limb-girdle muscular dystrophies: the 2014 update

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Diagnostic approach to the congenital muscular dystrophies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Approach to the diagnosis of congenital myopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Congenital muscular dystrophies and congenital myopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

ACMG clinical laboratory standards for next-generation sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Next generation sequencing (NGS) strategies for the genetic testing of myopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Enhancer chip: detecting human copy number variations in regulatory elements

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular 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=4932234

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy 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=4932234

Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital 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=4932234

Exome sequencing as a tool for Mendelian disease gene discovery

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Unlocking Mendelian disease using exome sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Target-enrichment strategies for next-generation sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Genetic neuromuscular disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4932234

4 September 2018

1 reference

12 December 2020

The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

1 reference

PubMed

12 December 2020

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform

1 reference

PubMed

12 December 2020

The muscular dystrophies

1 reference

PubMed

12 December 2020

10.1212/WNL.0000000000002800

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27281536%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference