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Spectrum of movement disorders and motor abnormalities in adults with a 22q11.2 microdeletion: Comment on the literature and retrospective study of 92 adults.

作者信息

Boot Erik, Marras Connie, Bassett Anne S

机构信息

The Dalglish Family 22q Clinic, University Health Network, Toronto, Ontario, Canada.

Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands.

出版信息

Eur J Hum Genet. 2022 Dec;30(12):1314-1317. doi: 10.1038/s41431-022-01152-4. Epub 2022 Aug 25.

DOI:10.1038/s41431-022-01152-4

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9712387/

Abstract

摘要

相似文献

[1]

Spectrum of movement disorders and motor abnormalities in adults with a 22q11.2 microdeletion: Comment on the literature and retrospective study of 92 adults.

Eur J Hum Genet. 2022-12

[2]

[Microdeletion of 22q11, DiGeorge and velocardiofacial syndrome].

Ugeskr Laeger. 2000-7-31

[3]

[Molecular basis of microdeletion 22q11].

Arch Pediatr. 2002-5

[4]

Deletion 22q11: spectrum of associated disorders.

Semin Pediatr Neurol. 2007-9

[5]

[Prenatal diagnosis of 22q11 microdeletion syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017-4-10

[6]

Myoclonic movement disorder associated with microdeletion of chromosome 22q11.

J Neurol Neurosurg Psychiatry. 2002-11

[7]

Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2.

J Med Genet. 2000-6

[8]

[Diagnosis of 22q11.2 deletion syndrome in the context of newly developed psychosis].

Neuropsychiatr. 2016-12

[9]

Is the autosomal dominant Optiz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2?

Am J Med Genet. 1996-8-23

[10]

[Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome].

Rev Med Chil. 2001-5

引用本文的文献

[1]

Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion Syndrome.

Eur J Neurol. 2025-6

[2]

Genetic abnormalities in catatonia: a systematic review.

Psychol Med. 2025-6-13

[3]

Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study.

Mov Disord Clin Pract. 2025-6

[4]

Real-World Treatment of Schizophrenia in Adults With a 22q11.2 Microdeletion: Traitement dans le monde réel de la schizophrénie chez des adultes atteints du syndrome de microdélétion 22q11.2.

Can J Psychiatry. 2025-3

[5]

Rare genetic disorders and the heightened importance of baseline motor examinations in children and adolescents experiencing a first episode of psychosis.

Eur Child Adolesc Psychiatry. 2025-2

本文引用的文献

[1]

Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening.

CMAJ Open. 2021

[2]

Age-Related Parkinsonian Signs in Microdeletion 22q11.2.

Mov Disord. 2020-7

[3]

Neurobiological perspective of 22q11.2 deletion syndrome.

Lancet Psychiatry. 2019-11

[4]

22q11.2 Deletion Syndrome-Associated Parkinson's Disease.

Mov Disord Clin Pract. 2018-11-9

[5]

22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.

Epilepsia. 2017-4-27

[6]

22q11.2 deletion syndrome.

Nat Rev Dis Primers. 2015-11-19

[7]

The prevalence of primary dystonia: a systematic review and meta-analysis.

Mov Disord. 2012-10-31

[8]

Movement disorder emergencies.

Mov Disord. 2005-3

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