Literature DB >> 32676758

Hot cross bun sign and prominent cerebellar peduncle involvement in a patient with oculodentodigital dysplasia.

Vasilios C Constantinides1, George P Paraskevas2, Stefania Kalogera3, Christos Yapijakis3,4,5, Elisabeth Kapaki2.   

Abstract

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Year:  2020        PMID： 32676758     DOI： 10.1007/s10072-020-04569-1

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  10 in total

1.  Teaching neuroimages: oculodentodigital dysplasia: hypomyelination and syndactyly.

Authors:  Christos Ganos; Alexander Münchau; Brigitte Holst; Gregor Schlüter; Christian Gerloff; Gökhan Uyanik
Journal:  Neurology       Date:  2012-10-16       Impact factor: 9.910

2.  Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement.

Authors:  I Harting; S Karch; U Moog; A Seitz; P J W Pouwels; N I Wolf
Journal:  AJNR Am J Neuroradiol       Date:  2019-05-02       Impact factor: 3.825

3.  Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Authors:  William A Paznekas; Simeon A Boyadjiev; Robert E Shapiro; Otto Daniels; Bernd Wollnik; Catherine E Keegan; Jeffrey W Innis; Mary Beth Dinulos; Cathy Christian; Mark C Hannibal; Ethylin Wang Jabs
Journal:  Am J Hum Genet       Date:  2002-11-27       Impact factor: 11.025

4.  Neurological manifestations of the oculodentodigital dysplasia syndrome.

Authors:  Tobias Loddenkemper; Kerstin Grote; Stefan Evers; Michael Oelerich; Florian Stögbauer
Journal:  J Neurol       Date:  2002-05       Impact factor: 4.849

5.  Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family.

Authors:  Claudia Amador; Anne M Mathews; Maria Del Carmen Montoya; Mary E Laughridge; David B Everman; Kenton R Holden
Journal:  J Child Neurol       Date:  2008-08       Impact factor: 1.987

Review 6.  Multiple system atrophy: an update.

Authors:  Nadia Stefanova; Philipp Bücke; Susanne Duerr; Gregor Karl Wenning
Journal:  Lancet Neurol       Date:  2009-12       Impact factor: 44.182

7.  Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter.

Authors:  D H Gutmann; E H Zackai; D M McDonald-McGinn; K H Fischbeck; J Kamholz
Journal:  Am J Med Genet       Date:  1991-10-01

8.  Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family.

Authors:  K K Norton; J C Carey; D H Gutmann
Journal:  Am J Med Genet       Date:  1995-07-03

Review 9.  GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

Authors:  William A Paznekas; Barbara Karczeski; Sascha Vermeer; R Brian Lowry; Martin Delatycki; Faivre Laurence; Pasi A Koivisto; Lionel Van Maldergem; Simeon A Boyadjiev; Joann N Bodurtha; Ethylin Wang Jabs
Journal:  Hum Mutat       Date:  2009-05       Impact factor: 4.878

Review 10.  Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

Authors:  Marijke De Bock; Marianne Kerrebrouck; Nan Wang; Luc Leybaert
Journal:  Front Pharmacol       Date:  2013-09-26       Impact factor: 5.810
  10 in total
  1 in total

1.  The "hot cross bun sign" in patients with autoimmune cerebellar ataxia: A case report and literature review.

Authors:  Mange Liu; Haitao Ren; Nan Lin; Ying Tan; Siyuan Fan; Hongzhi Guan
Journal:  Front Neurol       Date:  2022-08-19       Impact factor: 4.086
  1 in total

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