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2 recherche sur le mot-clé 'Tremor'
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Emerging topics in FXTAS / D. A. HALL in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : Emerging topics in FXTAS Type de document : Texte imprimé et/ou numérique Auteurs : D. A. HALL, Auteur ; R. C. BIRCH, Auteur ; M. ANHEIM, Auteur ; A. E. JONCH, Auteur ; E. PINTADO, Auteur ; J. O'KEEFE, Auteur ; J. N. TROLLOR, Auteur ; G. T. STEBBINS, Auteur ; Randi J. HAGERMAN, Auteur ; S. FAHN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. A. LEEHEY, Auteur Article en page(s) : p.31 Langues : Anglais (eng) Mots-clés : Ataxia Fmr1 Fxtas Fragile X Premutation Tremor Index. décimale : PER Périodiques Résumé : This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2013. En ligne : http://dx.doi.org/10.1186/1866-1955-6-31 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.31[article] Emerging topics in FXTAS [Texte imprimé et/ou numérique] / D. A. HALL, Auteur ; R. C. BIRCH, Auteur ; M. ANHEIM, Auteur ; A. E. JONCH, Auteur ; E. PINTADO, Auteur ; J. O'KEEFE, Auteur ; J. N. TROLLOR, Auteur ; G. T. STEBBINS, Auteur ; Randi J. HAGERMAN, Auteur ; S. FAHN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. A. LEEHEY, Auteur . - p.31.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.31
Mots-clés : Ataxia Fmr1 Fxtas Fragile X Premutation Tremor Index. décimale : PER Périodiques Résumé : This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2013. En ligne : http://dx.doi.org/10.1186/1866-1955-6-31 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 Movement Disorders and Syndromic Autism: A Systematic Review / L. BELL in Journal of Autism and Developmental Disorders, 49-1 (January 2019)
[article]
Titre : Movement Disorders and Syndromic Autism: A Systematic Review Type de document : Texte imprimé et/ou numérique Auteurs : L. BELL, Auteur ; A. WITTKOWSKI, Auteur ; D. J. HARE, Auteur Article en page(s) : p.54-67 Langues : Anglais (eng) Mots-clés : Angelman Ataxia Autism Dystonia Extra-pyramidal Movement disorder Retts Rigidity Tremor Index. décimale : PER Périodiques Résumé : Movement disorders are reported in idiopathic autism but the extent to which comparable movement disorders are found in syndromic/co-morbid autism is unknown. A systematic search of Medline, Embase, PsychINFO and CINAHL on the prevalence of specific movement disorder in syndromic autism associated with specific genetic syndromes identified 16 papers, all relating to Angelman syndrome or Rett syndrome. Prevalence rates of 72.7-100% and 25.0-27.3% were reported for ataxia and tremor, respectively, in Angelman syndrome. In Rett syndrome, prevalence rates of 43.6-50% were reported for ataxia and 27.3-48.3% for tremor with additional reports of dystonia, rigidity and pyramidal signs. However, reliable assessment measures were rarely used and recruitment was often not described in sufficient detail. En ligne : http://dx.doi.org/10.1007/s10803-018-3658-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=376
in Journal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.54-67[article] Movement Disorders and Syndromic Autism: A Systematic Review [Texte imprimé et/ou numérique] / L. BELL, Auteur ; A. WITTKOWSKI, Auteur ; D. J. HARE, Auteur . - p.54-67.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.54-67
Mots-clés : Angelman Ataxia Autism Dystonia Extra-pyramidal Movement disorder Retts Rigidity Tremor Index. décimale : PER Périodiques Résumé : Movement disorders are reported in idiopathic autism but the extent to which comparable movement disorders are found in syndromic/co-morbid autism is unknown. A systematic search of Medline, Embase, PsychINFO and CINAHL on the prevalence of specific movement disorder in syndromic autism associated with specific genetic syndromes identified 16 papers, all relating to Angelman syndrome or Rett syndrome. Prevalence rates of 72.7-100% and 25.0-27.3% were reported for ataxia and tremor, respectively, in Angelman syndrome. In Rett syndrome, prevalence rates of 43.6-50% were reported for ataxia and 27.3-48.3% for tremor with additional reports of dystonia, rigidity and pyramidal signs. However, reliable assessment measures were rarely used and recruitment was often not described in sufficient detail. En ligne : http://dx.doi.org/10.1007/s10803-018-3658-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=376