Learning disabilities in neuromuscular disorders: a springboard for adult life (Q42031930)

15 October 2017

4 references

13 March 2019

14 March 2019

22 April 2019

25 April 2019

Learning disabilities in neuromuscular disorders: a springboard for adult life (English)

1 reference

15 October 2017

0 references

intellectual disability

4 references

13 March 2019

14 March 2019

22 April 2019

25 April 2019

4 references

13 March 2019

14 March 2019

22 April 2019

25 April 2019

4 references

13 March 2019

14 March 2019

22 April 2019

25 April 2019

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28344438%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

Guja Astrea

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28344438%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Roberta Battini

2

1 reference

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2 June 2020

Sara Lenzi

3

1 reference

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2 June 2020

Silvia Frosini

4

1 reference

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2 June 2020

Silvia Bonetti

5

1 reference

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2 June 2020

Silvia Perazza

7

1 reference

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2 June 2020

Filippo M Santorelli

8

1 reference

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2 June 2020

Chiara Pecini

9

1 reference

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2 June 2020

publication date

1 October 2016

5 references

15 October 2017

13 March 2019

14 March 2019

22 April 2019

25 April 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28344438%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28344438%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

issue

2

1 reference

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2 June 2020

page(s)

90-95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28344438%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

2 June 2020

copyright license

4 references

13 March 2019

14 March 2019

22 April 2019

on focus list of Wikimedia project

25 April 2019

ScienceSource

0 references

cites work

Do Psychosocial Interventions Improve Quality of Life and Wellbeing in Adults with Neuromuscular Disorders? A Systematic Review and Narrative Synthesis.

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TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.

5 June 2018

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Cognitive dysfunction in adolescents with chronic fatigue: a cross-sectional study

5 June 2018

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Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

5 June 2018

1 reference

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Diagnostic approach to the congenital muscular dystrophies

5 June 2018

1 reference

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Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

5 June 2018

1 reference

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Minor cognitive disturbances in X-linked spinal and bulbar muscular atrophy, Kennedy's disease

5 June 2018

1 reference

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Neuropsychological and neurobehavioral functioning in Duchenne muscular dystrophy: a review

5 June 2018

1 reference

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The submerged dyslexia iceberg: how many school children are not diagnosed? Results from an Italian study

5 June 2018

1 reference

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Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1.

5 June 2018

1 reference

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Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

5 June 2018

1 reference

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A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis

5 June 2018

1 reference

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A gradient of childhood self-control predicts health, wealth, and public safety

5 June 2018

1 reference

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Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy

5 June 2018

1 reference

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Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

5 June 2018

1 reference

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Cognitive impairment in neuromuscular disorders.

5 June 2018

1 reference

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Effects of fukutin deficiency in the developing mouse brain

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Congenital muscular dystrophies

5 June 2018

1 reference

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Intelligence and cognitive function in children and adolescents with spinal muscular atrophy

5 June 2018

1 reference

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The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review

5 June 2018

1 reference

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Nemaline myopathy: a clinical study of 143 cases

5 June 2018

1 reference

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Poor verbal working memory across intellectual level in boys with Duchenne dystrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Cognitive and psychological profile of a Tunisian population of limb girdle muscular dystrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Psychopathological and emotional deficits in myotonic dystrophy

5 June 2018

1 reference

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Reading ability and processing in Duchenne muscular dystrophy and spinal muscular atrophy.

5 June 2018

1 reference

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Cerebral abnormalities in myotonic dystrophy. Cerebral blood flow, magnetic resonance imaging, and neuropsychological tests.

5 June 2018

1 reference

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Cognitive impairment in Duchenne muscular dystrophy.

5 June 2018

1 reference

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Multicore myopathy, microcephaly, aganglionosis, and short stature

5 June 2018

1 reference

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Profiles of neuromuscular diseases. Spinal muscular atrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Cognitive and personality function in myotonic muscular dystrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Language and learning disorders of older boys with Duchenne muscular dystrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Disturbed personality and psychosocial adjustment in myotonic dystrophy: relationship to intellectual/cognitive function and underlying affective disorder (depression).

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Downward shift in IQ in persons with Duchenne muscular dystrophy compared to those with spinal muscular atrophy.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Etiology of intellectual impairment in Duchenne muscular dystrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Cognitive functions in Duchenne muscular dystrophy: a reappraisal and comparison with spinal muscular atrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexia.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Specific profiles of neurocognitive and reading functions in a sample of 42 Italian boys with Duchenne Muscular Dystrophy.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

A de novo paradigm for mental retardation.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Association of autistic spectrum disorders with dystrophinopathies

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Cognitive and psychological profile of males with Becker muscular dystrophy

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2).

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Developmental expression of myotonic dystrophy protein kinase in brain and its relevance to clinical phenotype.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Personality patterns in patients with myotonic dystrophy.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5343745

Cognitive impairment and (CTG)n expansion in myotonic dystrophy patients

17 August 2018

1 reference

12 December 2020

Brain dystrophin, neurogenetics and mental retardation

1 reference

12 December 2020

Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy

1 reference

12 December 2020

Emotional and behavioral profile and child psychiatric diagnosis in the childhood type of myotonic dystrophy

1 reference

12 December 2020

Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients

1 reference

12 December 2020

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

1 reference

12 December 2020

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

1 reference

12 December 2020

1 reference

12 December 2020

Magnetic resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy

1 reference

12 December 2020

Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions.

1 reference

12 December 2020

Intellect and Behaviour in Duchenne Muscular Dystrophy

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28344438%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

PubMed publication ID

28344438

1 reference