Related references
Note: Only part of the references are listed.Pontocerebellar Hypoplasia Type 6: A British Case With PEHO-Like Features
Julia Rankin et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Molecular and Neuroimaging Findings in Pontocerebellar Hypoplasia Type 2 (PCH2): Is Prenatal Diagnosis Possible?
John M. Graham et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene
Paul Renbaum et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings
Burak Durmaz et al.
JOURNAL OF NEUROLOGY (2009)
The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases
Anthony Antonellis et al.
Annual Review of Genomics and Human Genetics (2008)
Disrupted cerebellar development in preterm infants is associated with impaired neurodevelopmental outcome
Agnes Messerschmidt et al.
EUROPEAN JOURNAL OF PEDIATRICS (2008)
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
Birgit S. Budde et al.
NATURE GENETICS (2008)
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
Juliane Najm et al.
NATURE GENETICS (2008)
Aminoacyl tRNA synthetases and their connections to disease
Sang Gyu Park et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Pontocerebellar hypoplasia type 2: a neuropathological update
Peter G. Barth et al.
ACTA NEUROPATHOLOGICA (2007)
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia
Simon Edvardson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis
J. M. van de Kamp et al.
JOURNAL OF MEDICAL GENETICS (2007)
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Gert C. Scheper et al.
NATURE GENETICS (2007)
An active dominant mutation of Glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model
Kevin L. Seburn et al.
NEURON (2006)
Severe, fetal-onset form of Olivopontocerebellar hypoplasia in three sibs: PCH type 5?
MS Patel et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Congenital disorder of glycosylation type Id: Clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins
J Denecke et al.
PEDIATRIC RESEARCH (2005)
Identification of a human endonuclease complex reveals a link between tRNA splicing and Pre-mRNA 3′ end formation
SV Paushkin et al.
CELL (2004)
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21
A Rajab et al.
NEUROLOGY (2003)
Share Paper
