Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Authors
Keywords
-
Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 26, Issue 5, Pages 695-708
Publisher
Springer Nature
Online
2018-02-21
DOI
10.1038/s41431-018-0098-2
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
- (2017) Rea M Lardelli et al. NATURE GENETICS
- Regulation of mRNA Translation in Neurons—A Matter of Life and Death
- (2017) Mridu Kapur et al. NEURON
- Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
- (2016) Martin W. Breuss et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whole exome sequencing in patients with white matter abnormalities
- (2016) Adeline Vanderver et al. ANNALS OF NEUROLOGY
- A homozygous nonsense variant inIFT52is associated with a human skeletal ciliopathy
- (2016) K. M. Girisha et al. CLINICAL GENETICS
- Clinical exome sequencing: results from 2819 samples reflecting 1000 families
- (2016) Daniel Trujillano et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice
- (2016) Malte Spielmann et al. GENOME RESEARCH
- HGVS Recommendations for the Description of Sequence Variants: 2016 Update
- (2016) Johan T. den Dunnen et al. HUMAN MUTATION
- Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases
- (2016) Rong Chen et al. NATURE BIOTECHNOLOGY
- The regulation and functions of the nuclear RNA exosome complex
- (2016) Cornelia Kilchert et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
- (2015) Katta Mohan Girisha et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Pontocerebellar hypoplasia
- (2014) Sabine Rudnik-Schöneborn et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function
- (2014) Ender Karaca et al. CELL
- CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
- (2014) Ashleigh E. Schaffer et al. CELL
- Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions
- (2014) Kelly D. Farwell et al. GENETICS IN MEDICINE
- Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia
- (2014) Ayelet Halevy et al. JOURNAL OF NEUROLOGY
- A mutation in Ampd2 is associated with nephrotic syndrome and hypercholesterolemia in mice
- (2014) Joan Helmering et al. Lipids in Health and Disease
- EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
- (2014) Veerle RC Eggens et al. Orphanet Journal of Rare Diseases
- Ribosome rescue and neurodegeneration
- (2014) J. C. Darnell SCIENCE
- Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration
- (2014) R. Ishimura et al. SCIENCE
- Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
- (2014) G. Novarino et al. SCIENCE
- AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder
- (2013) Naiara Akizu et al. CELL
- Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations
- (2013) S. Rudnik-Schoneborn et al. NEUROLOGY
- CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development
- (2012) Ganeshwaran H Mochida et al. NATURE GENETICS
- Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
- (2012) Jijun Wan et al. NATURE GENETICS
- The variant call format and VCFtools
- (2011) P. Danecek et al. BIOINFORMATICS
- Proteinuria in AMPD2-deficient mice
- (2011) Keiko Toyama et al. GENES TO CELLS
- Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy
- (2010) Orly Agamy et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
- (2010) Yasmin Namavar et al. BRAIN
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
- (2008) Birgit S Budde et al. NATURE GENETICS
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started