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Pontoneocerebellar hypoplasia
Known as:
Pontocerebellar hypoplasia
National Institutes of Health
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Congenital pontocerebellar hypoplasia
Microcephaly
PONTOCEREBELLAR HYPOPLASIA, TYPE 10
PONTOCEREBELLAR HYPOPLASIA, TYPE 7
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Broader (1)
underdevelopment
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.
H. Maraş-Genç
,
Emek Uyur-Yalçın
,
R. O. Rosti
,
J. Gleeson
,
B. Kara
Turkish Journal of Pediatrics
2015
Corpus ID: 10920068
The pontocerebellar hypoplasias (PCHs) are a heterogeneous group of autosomal recessive disorders characterized by hypoplasia of…
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2013
2013
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations
Katherina Kastrissianakis
,
G. Anand
,
+5 authors
T. McShane
Archives of Disease in Childhood
2013
Corpus ID: 21201361
Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder…
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2007
2007
A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.
U. Yiş
,
G. Uyanik
,
+4 authors
U. Hehr
European journal of paediatric neurology
2007
Corpus ID: 24392382
Highly Cited
2003
Highly Cited
2003
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21
A. Rajab
,
G. Mochida
,
+6 authors
C. Walsh
Neurology
2003
Corpus ID: 17241021
Objective: To describe a novel form of pontocerebellar hypoplasia (PCH) and map its genetic locus. Background: PCH is a…
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2002
2002
Pontocerebellar Hypoplasia in Two Siblings With Dysmorphic Features
E. Dilber
,
F. M. Aynaci
,
A. Ahmetoğlu
Journal of Child Neurology
2002
Corpus ID: 28432757
We present two siblings with pontocerebellar hypoplasia who have progressive microcephaly, mental and motor retardation, truncal…
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1999
1999
Pontocerebellar Hypoplasia Associated with Respiratory-Chain Defects
T. J. D. Koning
,
L. S. D. Vries
,
+4 authors
Peter G. Barth
Neuropediatrics
1999
Corpus ID: 21101560
(Walker-Warburg Fukuyama
1999
1999
Familial pontocerebellar hypoplasia type I with anterior horn cell disease.
U. Görgen-Pauly
,
J. Sperner
,
I. Reiss
,
H. Gehl
,
E. Reusche
European journal of paediatric neurology
1999
Corpus ID: 37254595
We report the association of pontocerebellar hypoplasia and anterior horn cell disease in three female siblings. One child…
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1997
1997
A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers
A. Malandrini
,
S. Palmeri
,
+5 authors
G. Guazzi
Brain & development (Tokyo. )
1997
Corpus ID: 5975109
1997
1997
Pontocerebellar hypoplasia with microcephaly and dyskinesia: report of two cases
C. Barbot
,
G. Carneiro
Developmental Medicine & Child Neurology
1997
Corpus ID: 10937328
We present two clinically diagnosed cases of pontocerebellar hypoplasia with microcephaly and dyskinesia (pontocerebellar…
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1996
1996
Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations
Nathanel Zelnik
,
W. Dobyns
,
S. Forem
,
Edwin H. Kolodny
Neuroradiology
1996
Corpus ID: 42892714
Abstract We report three patients with severe pontocerebellar atrophy (PCA) associated with a variable degree of cerebral atrophy…
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