Literature DB >> 31970230

Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant.

Luca Pollini1, Serena Galosi1, Francesca Nardecchia1, Francesco Musacchia2, Raffaele Castello2, Vincenzo Nigro2, Vincenzo Leuzzi1.   

Abstract

Entities:  

Keywords:  MECP2; Rett syndrome; atypical parkinsonism

Year:  2019        PMID： 31970230      PMCID： PMC6962672          DOI： 10.1002/mdc3.12865

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


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  14 in total

1.  PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.

Authors:  S Lindsay; M Splitt; S Edney; T P Berney; S J Knight; K E Davies; O O'Brien; M Gale; J Burn
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

Authors:  Sabine M Klauck; Susan Lindsay; Kim S Beyer; Miranda Splitt; John Burn; Annemarie Poustka
Journal:  Am J Hum Genet       Date:  2002-02-15       Impact factor: 11.025

Review 3.  MECP2 mutations in males.

Authors:  Laurent Villard
Journal:  J Med Genet       Date:  2007-03-09       Impact factor: 6.318

4.  Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.

Authors:  V Leuzzi; M L Di Sabato; M Zollino; M L Montanaro; S Seri
Journal:  Neurology       Date:  2004-11-23       Impact factor: 9.910

5.  FXTAS: new insights and the need for revised diagnostic criteria.

Authors:  Emmanuelle Apartis; Anne Blancher; Wassilios G Meissner; Lucie Guyant-Maréchal; David Maltête; Thomas De Broucker; André-Pierre Legrand; Hichem Bouzenada; Hung Tran Thanh; Magali Sallansonnet-Froment; Adrien Wang; François Tison; Carole Roué-Jagot; Frédéric Sedel; Perrine Charles; Sandra Whalen; Delphine Héron; Stéphane Thobois; Alice Poisson; Gaetan Lesca; Anne-Marie Ouvrard-Hernandez; Valérie Fraix; Stephane Palfi; Marie-Odile Habert; Bertrand Gaymard; Jean-Claude Dussaule; Pierre Pollak; Marie Vidailhet; Alexandra Durr; Jean-Claude Barbot; Véronique Gourlet; Alexis Brice; Mathieu Anheim
Journal:  Neurology       Date:  2012-10-17       Impact factor: 9.910

6.  Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

Authors:  J L Neul; P Fang; J Barrish; J Lane; E B Caeg; E O Smith; H Zoghbi; A Percy; D G Glaze
Journal:  Neurology       Date:  2008-03-12       Impact factor: 9.910

7.  Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type.

Authors:  Teresa Temudo; Elisabete Ramos; Karin Dias; Clara Barbot; Jose P Vieira; Ana Moreira; Eulalia Calado; Ines Carrilho; Guiomar Oliveira; Antonio Levy; Maria Fonseca; Alexandra Cabral; Pedro Cabral; Joao P Monteiro; Luis Borges; Roseli Gomes; Manuela Santos; Jorge Sequeiros; Patricia Maciel
Journal:  Mov Disord       Date:  2008-07-30       Impact factor: 10.338

Review 8.  "Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.

Authors:  Maria Stamelou; Niall P Quinn; Kailash P Bhatia
Journal:  Mov Disord       Date:  2013-05-29       Impact factor: 10.338

9.  VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database.

Authors:  F Musacchia; A Ciolfi; M Mutarelli; A Bruselles; R Castello; M Pinelli; S Basu; S Banfi; G Casari; M Tartaglia; V Nigro
Journal:  BMC Bioinformatics       Date:  2018-12-12       Impact factor: 3.169

10.  Rett Syndrome in Males: A Case Report and Review of Literature.

Authors:  Gurneet Chahil; Anudeep Yelam; Pradeep C Bollu
Journal:  Cureus       Date:  2018-10-04
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