Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms.
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Congenital and childhood myotonic dystrophy: Current aspects of disease and future directionsGenes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy.Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS.Hard ways towards adulthood: the transition phase in young people with myotonic dystrophy.Regulation of DMD pathology by an ankyrin-encoded miRNA.Early diagnosis of autism and impact on prognosis: a narrative reviewDiffusion tensor imaging reveals widespread white matter abnormalities in children and adolescents with myotonic dystrophy type 1.Generation of neural cells from DM1 induced pluripotent stem cells as cellular model for the study of central nervous system neuropathogenesisParent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy.Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study.Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1.Autism spectrum disorders: the quest for genetic syndromes.Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy.CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic DystrophyMyotonic Dystrophy Type 1 Management and Therapeutics.Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism.Physical function and mobility in children with congenital myotonic dystrophy.Genome modification leads to phenotype reversal in human myotonic dystrophy type 1 induced pluripotent stem cell-derived neural stem cells.Autism spectrum symptoms in children with neurological disordersBrain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1.The impact of congenital and childhood myotonic dystrophy on quality of life: a qualitative study of associated symptoms.Speech characteristics in the congenital and childhood-onset forms of myotonic dystrophy type 1.Delusional and psychotic disorders in juvenile myotonic dystrophy type-1.Oral hygiene aspects in a study of children and young adults with the congenital and childhood forms of myotonic dystrophy type 1.Core Clinical Phenotypes in Myotonic Dystrophies.Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophyNeuropsychological and Psychological Functioning Aspects in Myotonic Dystrophy Type 1 Patients in ItalyOutcome Measures for Central Nervous System Evaluation in Myotonic Dystrophy Type 1 May Be Confounded by Deficits in Motor Function or InsightSocial cognition in myotonic dystrophy type 1: Specific or secondary impairment?
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P2860
Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms.
description
2008 nî lūn-bûn
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2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
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2008年學術文章
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2008年學術文章
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name
Autism spectrum conditions in ...... ongenital and childhood forms.
@en
Autism spectrum conditions in ...... ongenital and childhood forms.
@nl
type
label
Autism spectrum conditions in ...... ongenital and childhood forms.
@en
Autism spectrum conditions in ...... ongenital and childhood forms.
@nl
prefLabel
Autism spectrum conditions in ...... ongenital and childhood forms.
@en
Autism spectrum conditions in ...... ongenital and childhood forms.
@nl
P2093
P2860
P356
P1476
Autism spectrum conditions in ...... ongenital and childhood forms.
@en
P2093
Anne-Berit Ekström
Elisabet Wentz
Lena Samuelsson
Louise Hakenäs-Plate
Már Tulinius
P2860
P304
P356
10.1002/AJMG.B.30698
P577
2008-09-01T00:00:00Z