The syndrome of autosornal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): Compiled data from 10 pedigrees

Neurology ◽  
1995 ◽  
Vol 45 (2) ◽  
pp. 311-317 ◽  
Author(s):  
P. G. Barth ◽  
G. Blennow ◽  
H-G. Lenard ◽  
J. H. Begeer ◽  
J. M. van der Kley ◽  
...  
Keyword(s):  
Pontocerebellar Hypoplasia

Natural course of pontocerebellar hypoplasia Type 2

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
I Sánchez Albisua ◽  
S Froelich ◽  
I Krägeloh-Mann
Keyword(s):  
Natural Course ◽  
Pontocerebellar Hypoplasia

Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2

2019 ◽  
Vol 182 (3) ◽  
pp. 557-560
Author(s):  
Nicolas J. Abreu ◽  
Daniel C. Koboldt ◽  
Julie M. Gastier‐Foster ◽  
Ashita Dave‐Wala ◽  
Kevin M. Flanigan ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Stickler Syndrome ◽  
Pontocerebellar Hypoplasia ◽  
Complex Phenotype

scholarly journals Brain morphometry in Pontocerebellar Hypoplasia type 2

2016 ◽  
Vol 11 (1) ◽  
Author(s):  
Kaspar Ekert ◽  
Samuel Groeschel ◽  
Iciar Sánchez-Albisua ◽  
Saskia Frölich ◽  
Andrea Dieckmann ◽  
...  
Keyword(s):  
Pontocerebellar Hypoplasia ◽  
Brain Morphometry

A combination of chorea, myoclonus, and dystonia in a patient with pontocerebellar hypoplasia type 2: a video case presentation

2015 ◽  
Vol 115 (4) ◽  
pp. 783-785
Author(s):  
Harsh V. Gupta ◽  
Raghu H. Ramakrishnaiah ◽  
Gregory B. Sharp ◽  
Ricky W. Lee ◽  
William D. Walters
Keyword(s):  
Pontocerebellar Hypoplasia ◽  
Case Presentation

Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)

2008 ◽  
Vol 18 (1) ◽  
pp. 52-58 ◽  
Author(s):  
Peter G. Barth ◽  
Monique M. Ryan ◽  
Richard I. Webster ◽  
Eleonora Aronica ◽  
Alex Kan ◽  
...  
Keyword(s):  
Pontocerebellar Hypoplasia

scholarly journals Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible?

2010 ◽  
Vol 152A (9) ◽  
pp. 2268-2276 ◽  
Author(s):  
John M. Graham ◽  
Andrew H. Spencer ◽  
Inessa Grinberg ◽  
Charles E. Niesen ◽  
Lawrence D. Platt ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pontocerebellar Hypoplasia

Pontocerebellar hypoplasia type 2: Variability in clinical and imaging findings

2007 ◽  
Vol 11 (3) ◽  
pp. 146-152 ◽  
Author(s):  
Maja Steinlin ◽  
Andrea Klein ◽  
Karin Haas-Lude ◽  
Dimitrios Zafeiriou ◽  
Susi Strozzi ◽  
...  
Keyword(s):  
Imaging Findings ◽  
Pontocerebellar Hypoplasia

Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings

2000 ◽  
Vol 22 (3) ◽  
pp. 188-192 ◽  
Author(s):  
Giangennaro Coppola ◽  
Ida Muras ◽  
Antonio Pascotto
Keyword(s):  
Pontocerebellar Hypoplasia

DMP03 Pontocerebellar hypoplasia type 2: clinical and biochemical findings

2007 ◽  
Vol 11 ◽  
pp. 77
Author(s):  
C. Fons ◽  
A. Ormazabal ◽  
R. Artuch ◽  
E. Fernandez ◽  
J. Campistol ◽  
...  
Keyword(s):  
Pontocerebellar Hypoplasia
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