Parkinsonism may be part of the symptom complex of DOOR syndrome-Reference-Cited by-同舟云学术

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Parkinsonism may be part of the symptom complex of DOOR syndrome

Published:2014-04 Issue:4 Volume:20 Page:463-465
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Bilo Leonilda,Peluso Silvio,Antenora Antonella,De Rosa Anna,Auletta Gennaro,Pappatà Sabina,De Michele Giuseppe

Funder

Italian Ministry of Education, University, and Research

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference5 articles.

1. DOOR syndrome: clinical report, literature review and discussion of natural history;James;Am J Med Genet A,2007

2. Further delineation of the DOOR syndrome;Rajab;Clin Dysmorphol,2000

3. DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex;Surendran;Am J Med Genet,2002

4. Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations;Gascon;Brain Dev,1994

5. Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome;van Bever;Am J Med Genet A,2007

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: a new case report from Indonesia and review of the literature;European Journal of Dermatology;2020-08

2. Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence;Brain;2019-12-04

3. Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle;Journal of Inherited Metabolic Disease;2018-07-18

4. Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability;F1000Research;2017-04-24

5. TBC1D24genotype–phenotype correlation;Neurology;2016-06-08

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