Anti-MOG antibody encephalitis mimicking neurological deterioration in a case of Rett syndrome with MECP2 mutation

2018 ◽  
Vol 40 (10) ◽  
pp. 943-946 ◽  
Author(s):  
Hiroo Tani ◽  
Nobutsune Ishikawa ◽  
Yoshiyuki Kobayashi ◽  
Shohei Yamaoka ◽  
Yuji Fujii ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Neurological Deterioration ◽  
Mecp2 Mutation

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome

2019 ◽  
Author(s):  
Carla Caffarelli ◽  
Tomai Pitinca Maria Dea ◽  
Valentina Francolini ◽  
Roberto Canitano ◽  
felice Claudio De ◽  
...  
Keyword(s):  
Disease Severity ◽  
Rett Syndrome ◽  
Bone Disease ◽  
Binding Protein ◽  
Mecp2 Mutation ◽  
Mutation Type

scholarly journals Methyl-CpG-binding protein 2(MECP2) mutation type is associated with disease severity in Rett syndrome

2014 ◽  
Vol 51 (3) ◽  
pp. 152-158 ◽  
Author(s):  
Vishnu Anand Cuddapah ◽  
Rajesh B Pillai ◽  
Kiran V Shekar ◽  
Jane B Lane ◽  
Kathleen J Motil ◽  
...  
Keyword(s):  
Disease Severity ◽  
Rett Syndrome ◽  
Binding Protein ◽  
Mecp2 Mutation ◽  
Mutation Type

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

2008 ◽  
Vol 23 (10) ◽  
pp. 1384-1390 ◽  
Author(s):  
Teresa Temudo ◽  
Elisabete Ramos ◽  
Karin Dias ◽  
Clara Barbot ◽  
Jose P. Vieira ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Movement Disorders ◽  
Mecp2 Mutation ◽  
Mutation Type

Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome

2016 ◽  
Vol 117 (1) ◽  
pp. 251-258 ◽  
Author(s):  
Marwa Kharrat ◽  
Ines Hsairi ◽  
Hajer Doukali ◽  
Nourhene Fendri-Kriaa ◽  
Hassen Kammoun ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Sister Chromatid ◽  
Sister Chromatid Exchange ◽  
Phenotypic Variability ◽  
Chromosomal Rearrangements ◽  
Mecp2 Mutation

A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening

2001 ◽  
Vol 10 (3) ◽  
pp. 185-188 ◽  
Author(s):  
C. J. Ellaway ◽  
N. Badawi ◽  
L. Raffaele ◽  
J. Christodoulou ◽  
H. Leonard
Keyword(s):  
Rett Syndrome ◽  
Congenital Anomalies ◽  
Mutation Screening ◽  
Multiple Congenital Anomalies ◽  
Mecp2 Mutation

scholarly journals WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype

2018 ◽  
Vol 4 (2) ◽  
pp. e227 ◽  
Author(s):  
Leonora Kulikovskaja ◽  
Adrijan Sarajlija ◽  
Dusanka Savic-Pavicevic ◽  
Valerija Dobricic ◽  
Christine Klein ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Mecp2 Mutation

scholarly journals De novo mosaic MECP2 mutation in a female with Rett syndrome

2019 ◽  
Vol 7 (2) ◽  
pp. 366-370
Author(s):  
Angelos Alexandrou ◽  
Ioannis Papaevripidou ◽  
Ioanna Maria Alexandrou ◽  
Athina Theodosiou ◽  
Paola Evangelidou ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
De Novo ◽  
Mecp2 Mutation

scholarly journals p.R270X MECP2 mutation and mortality in Rett syndrome

2005 ◽  
Vol 13 (11) ◽  
pp. 1235-1238 ◽  
Author(s):  
Le Jian ◽  
Hayley L Archer ◽  
David Ravine ◽  
Alison Kerr ◽  
Nick de Klerk ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Mecp2 Mutation
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