Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy-Reference-Cited by-同舟云学术

Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy

Published:2018-12-08 Issue:1 Volume:20 Page:1-8
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Kapferer-Seebacher Ines^ORCID,Waisfisz Quinten,Boesch Sylvia,Bronk Marieke,van Tintelen Peter,Gizewski Elke R.,Groebner Rebekka,Zschocke Johannes,van der Knaap Marjo S.

Funder

Austrian Science Fund

Dutch ZonMw TOP

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-018-0560-x.pdf

Reference26 articles.

1. Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Bjorck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM, Molecular Basis of Periodontal EDSC, Byers PH, Zschocke J (2016) Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement. Am J Hum Genet 99(5):1005–1014. https://doi.org/10.1016/j.ajhg.2016.08.019

2. Lacroix M, Tessier A, Dumestre-Perard C, Vadon-Le Goff S, Gout E, Bruckner-Tuderman L, Kiritsi D, Nystrom A, Ricard-Blum S, Moali C, Hulmes DJS, Thielens NM (2017) Interaction of complement defence collagens C1q and mannose-binding lectin with BMP-1/tolloid-like proteinases. Sci Rep 7(1):16958. https://doi.org/10.1038/s41598-017-17318-w

3. Castori M, Voermans NC (2014) Neurological manifestations of Ehlers-Danlos syndrome(s): a review. Iran J Neurol 13(4):190–208

4. Echaniz-Laguna A, de Saint-Martin A, Lafontaine AL, Tasch E, Thomas P, Hirsh E, Marescaux C, Andermann F (2000) Bilateral focal polymicrogyria in Ehlers-Danlos syndrome. Arch Neurol 57(1):123–127

5. Ezzeddine H, Sabouraud P, Eschard C, El Tourjuman O, Bednarek N, Motte J (2005) Bilateral frontal polymicrogyria and Ehlers-Danlos syndrome. Arch Pediatr 12(2):173–175. https://doi.org/10.1016/j.arcped.2004.11.021

Cited by 18 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. Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome;Frontiers in Genetics;2023-05-31

2. An unexpected clinical presentation in periodontal Ehler-Danlos syndrome: preterm birth, profound intellectual disability and self-injurious behavior;Clinical Dysmorphology;2023-04

3. Inherited Complement Deficiencies;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2023

4. PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis;Human Molecular Genetics;2022-11-28

5. Multifocal periapical cemental dysplasia in periodontal Ehlers–Danlos syndrome combined with leukoencephalopathy in the mutation of c. 890G > a, G297D [ pEDS ];Clinical Case Reports;2022-11