Literature DB >> 20697718

Ehlers-Danlos syndrome and neurological features: a review.

Salvatore Savasta1, Pietro Merli, Martino Ruggieri, Lucia Bianchi, Maria Valentina Spartà.   

Abstract

Ehlers-Danlos Syndrome is a term that comprises a variety of inherited connective tissue disorders characterized primarily by skin hyperextensibility, joints hypermobility and excessive dislocations, easy bruisability, generalized fragility. If much is known about orthopedic or physiatric features of this syndrome, poor is known about the neurological ones. Thus neurological assessment is very important due to the possible various clinical manifestations in this syndrome. © Springer-Verlag 2010

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Year:  2010        PMID: 20697718     DOI: 10.1007/s00381-010-1256-1

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN: 0256-7040            Impact factor:   1.475


  67 in total

1.  Ehlers-Danlos syndrome; a clinical and genetic study.

Authors:  S A M JOHNSON; H F FALLS
Journal:  Arch Derm Syphilol       Date:  1949-07

2.  Mechanotransduction across the cell surface and through the cytoskeleton.

Authors:  N Wang; J P Butler; D E Ingber
Journal:  Science       Date:  1993-05-21       Impact factor: 47.728

3.  Arterial tortuosity syndrome.

Authors:  P Franceschini; A Guala; D Licata; G Di Cara; D Franceschini
Journal:  Am J Med Genet       Date:  2000-03-13

4.  Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries.

Authors:  M H Lees; V D Menashe; C O Sunderland; C L Mgan; P J Dawson
Journal:  J Pediatr       Date:  1969-12       Impact factor: 4.406

Review 5.  The Ehlers-Danlos syndromes.

Authors:  H N Yeowell; S R Pinnell
Journal:  Semin Dermatol       Date:  1993-09

6.  Brachial neuropathy and ehlers-danlos syndrome.

Authors:  T Papapetropoulos; C Tsankanikas; M Spengos
Journal:  Neurology       Date:  1981-05       Impact factor: 9.910

7.  Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

Authors:  J W Fox; E D Lamperti; Y Z Ekşioğlu; S E Hong; Y Feng; D A Graham; I E Scheffer; W B Dobyns; B A Hirsch; R A Radtke; S F Berkovic; P R Huttenlocher; C A Walsh
Journal:  Neuron       Date:  1998-12       Impact factor: 17.173

8.  Neurologic manifestations of Ehlers-Danlos syndrome.

Authors:  M E Pretorius; I J Butler
Journal:  Neurology       Date:  1983-08       Impact factor: 9.910

9.  Cerebrovascular disease in Ehlers-Danlos syndrome type IV.

Authors:  W I Schievink; M Limburg; J W Oorthuys; P Fleury; F M Pope
Journal:  Stroke       Date:  1990-04       Impact factor: 7.914

10.  Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphysema and cerebral heterotopias.

Authors:  L N Cupo; R E Pyeritz; J L Olson; S J McPhee; G M Hutchins; V A McKusick
Journal:  Am J Med       Date:  1981-12       Impact factor: 4.965

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  10 in total

1.  Clinical variability in children with dolichoarteriopathies of the internal carotid artery.

Authors:  Thomas Foiadelli; Rosario Ippolito; Riccardo Corbetta; Anna Maria Simoncelli; Rossella Amariti; Amelia Licari; Gianluigi Marseglia; Salvatore Savasta
Journal:  Childs Nerv Syst       Date:  2019-11-07       Impact factor: 1.475

2.  Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature.

Authors:  Maja Dusanic; Gabriele Dekomien; Thomas Lücke; Matthias Vorgerd; Joachim Weis; Joerg T Epplen; Cornelia Köhler; Sabine Hoffjan
Journal:  Mol Syndromol       Date:  2018-01-24

3.  A study of migraine characteristics in joint hypermobility syndrome a.k.a. Ehlers-Danlos syndrome, hypermobility type.

Authors:  Francesca Puledda; Alessandro Viganò; Claudia Celletti; Barbara Petolicchio; Massimiliano Toscano; Edoardo Vicenzini; Marco Castori; Guido Laudani; Donatella Valente; Filippo Camerota; Vittorio Di Piero
Journal:  Neurol Sci       Date:  2015-03-20       Impact factor: 3.307

4.  Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome.

Authors:  Sarah Kiener; Neoklis Apostolopoulos; Jennifer Schissler; Pascal-Kolja Hass; Fabienne Leuthard; Vidhya Jagannathan; Carole Schuppisser; Sara Soto; Monika Welle; Ursula Mayer; Tosso Leeb; Nina M Fischer; Sabine Kaessmeyer
Journal:  Genes (Basel)       Date:  2022-04-29       Impact factor: 4.141

5.  Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis.

Authors:  Olivier M Vanakker; Dimitri Hemelsoet; Anne De Paepe
Journal:  Stroke Res Treat       Date:  2011-01-20

Review 6.  Neurological manifestations of Ehlers-Danlos syndrome(s): A review.

Authors:  Marco Castori; Nicol C Voermans
Journal:  Iran J Neurol       Date:  2014-10-06

7.  Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization.

Authors:  Fraser C Henderson; C A Francomano; M Koby; K Tuchman; J Adcock; S Patel
Journal:  Neurosurg Rev       Date:  2019-01-09       Impact factor: 3.042

8.  Bilateral Superior Semicircular Canal Dehiscence Concurrent With Ehlers-Danlos Syndrome: A Case Report.

Authors:  Ansley Unterberger; Jessa Miller; Quinton Gopen; Isaac Yang
Journal:  Cureus       Date:  2021-11-27

9.  Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

Authors:  Michaela Auer-Grumbach; Martin Weger; Regina Fink-Puches; Lea Papić; Eleonore Fröhlich; Piet Auer-Grumbach; Laila El Shabrawi-Caelen; Maria Schabhüttl; Christian Windpassinger; Jan Senderek; Herbert Budka; Slave Trajanoski; Andreas R Janecke; Anton Haas; Dieter Metze; Thomas R Pieber; Christian Guelly
Journal:  Brain       Date:  2011-05-15       Impact factor: 13.501

10.  Effects of Rhythmic Sensory Stimulation on Ehlers-Danlos Syndrome: A Pilot Study.

Authors:  Veronica Vuong; Abdullah Mosabbir; Denise Paneduro; Larry Picard; Hanna Faghfoury; Michael Evans; Allan Gordon; Lee Bartel
Journal:  Pain Res Manag       Date:  2020-04-27       Impact factor: 3.037

  10 in total

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