Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3 ‐related type 1 pontocerebellar hypoplasia

2018 ◽  
Author(s):  
Miguel M. Pinto ◽  
Soledad Monges ◽  
Edoardo Malfatti ◽  
Fabiana Lubieniecki ◽  
Xavière Lornage ◽  
...  
Keyword(s):  
Pontocerebellar Hypoplasia ◽  
Muscle Biopsies ◽  
Nemaline Bodies

Pontocerebellar Hypoplasia Type 1: New Leads for an Earlier Diagnosis

2003 ◽  
Vol 18 (3) ◽  
pp. 220-225 ◽  
Author(s):  
Michael S. Salman ◽  
Susan Blaser ◽  
J. Raymond Buncic ◽  
Carol A. Westall ◽  
Elise Héon ◽  
...  
Keyword(s):  
Pontocerebellar Hypoplasia

HomozygousEXOSC3Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma

2013 ◽  
Vol 27 (4) ◽  
pp. 163-169 ◽  
Author(s):  
Jaroslava Schwabova ◽  
Dana Safka Brozkova ◽  
Borivoj Petrak ◽  
Mahulena Mojzisova ◽  
Klara Pavlickova ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Pontocerebellar Hypoplasia

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1

2018 ◽  
Vol 110 (6) ◽  
pp. 538-542 ◽  
Author(s):  
Séverine Bacrot ◽  
Charlotte Mechler ◽  
Naima Talhi ◽  
Dominique Martin-Coignard ◽  
Philippe Roth ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Pontocerebellar Hypoplasia ◽  
Whole Exome

A Mild Variant of Pontocerebellar Hypoplasia Type 1 in a 12-Year-Old Indian Boy

2009 ◽  
Vol 40 (4) ◽  
pp. 302-305 ◽  
Author(s):  
Devadathan Kalpana ◽  
Lalitha Parvathy ◽  
Shahanaz M. Ahamed ◽  
Mary Iype ◽  
Mohammed P.A. Kunju
Keyword(s):  
Pontocerebellar Hypoplasia

Phenotype of c.92G >C (p.G31A) mutation in the EXOSC3 gene – 14 new cases and comparison with other causes of pontocerebellar hypoplasia type 1

2017 ◽  
Vol 21 ◽  
pp. e10
Author(s):  
I. Ivanov ◽  
A. Jordanova ◽  
I. Litvinenko ◽  
L. Angelova ◽  
H. Mumdjiev ◽  
...  
Keyword(s):  
Pontocerebellar Hypoplasia

TSEN54 mutation in a child with pontocerebellar hypoplasia type 1

2011 ◽  
Vol 121 (5) ◽  
pp. 671-673 ◽  
Author(s):  
Alessandro Simonati ◽  
Denise Cassandrini ◽  
Diana Bazan ◽  
Filippo Maria Santorelli
Keyword(s):  
Pontocerebellar Hypoplasia

scholarly journals EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

2014 ◽  
Vol 9 (1) ◽  
pp. 23 ◽  
Author(s):  
Veerle RC Eggens ◽  
Peter G Barth ◽  
Jikke-Mien F Niermeijer ◽  
Jonathan N Berg ◽  
Niklas Darin ◽  
...  
Keyword(s):  
Pontocerebellar Hypoplasia ◽  
Novel Mutations
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