Literature DB >> 31392253

A Bizarre Gait as a Result of Overlapping Functional Disorder With Coffin-Lowry Syndrome.

Ana Brás1, Alexandra Pedruco2, Sofia Maia3, Isabel Fineza4, Ana Morgadinho1, Conceição Bento1.   

Abstract

Entities:  

Keywords:  Coffin‐Lowry syndrome; SIDEs; bizarre gait

Year:  2019        PMID： 31392253      PMCID： PMC6660236          DOI： 10.1002/mdc3.12778

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  9 in total

1.  RSK and MSK in MAP kinase signalling.

Authors:  Camilla Hauge; Morten Frödin
Journal:  J Cell Sci       Date:  2006-08-01       Impact factor: 5.285

2.  Conversion disorder in children and adolescents: a disorder of cognitive control.

Authors:  Kasia Kozlowska; Donna M Palmer; Kerri J Brown; Stephen Scher; Catherine Chudleigh; Fiona Davies; Leanne M Williams
Journal:  J Neuropsychol       Date:  2014-01-10       Impact factor: 2.864

3.  The movement disorders of Coffin-Lowry syndrome.

Authors:  John B P Stephenson; Mary C Hoffman; Aline J C Russell; Jane Falconer; Richard C Beach; John L Tolmie; Robert C McWilliam; Sameer M Zuberi
Journal:  Brain Dev       Date:  2005-03       Impact factor: 1.961

Review 4.  Stimulus-induced drop episodes in Coffin-Lowry syndrome.

Authors:  Jin S Hahn; André Hanauer
Journal:  Eur J Med Genet       Date:  2012-03-21       Impact factor: 2.708

5.  Stimulus-induced drop episodes in Coffin-Lowry syndrome.

Authors:  Gregg B Nelson; Jin S Hahn
Journal:  Pediatrics       Date:  2003-03       Impact factor: 7.124

6.  Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

Authors:  Dorota Jurkiewicz; Aleksandra Jezela-Stanek; Elzbieta Ciara; Dorota Piekutowska-Abramczuk; Monika Kugaudo; Maria Gajdulewicz; Krystyna Chrzanowska; Ewa Popowska; Małgorzata Krajewska-Walasek
Journal:  Eur J Med Genet       Date:  2010-07-15       Impact factor: 2.708

Review 7.  Coffin-Lowry syndrome.

Authors:  Patricia Marques Pereira; Anne Schneider; Solange Pannetier; Delphine Heron; André Hanauer
Journal:  Eur J Hum Genet       Date:  2009-11-04       Impact factor: 4.246

8.  ACMG clinical laboratory standards for next-generation sequencing.

Authors:  Heidi L Rehm; Sherri J Bale; Pinar Bayrak-Toydemir; Jonathan S Berg; Kerry K Brown; Joshua L Deignan; Michael J Friez; Birgit H Funke; Madhuri R Hegde; Elaine Lyon
Journal:  Genet Med       Date:  2013-07-25       Impact factor: 8.822

9.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822
  9 in total

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