Related references
Note: Only part of the references are listed.TSEN54 mutation in a child with pontocerebellar hypoplasia type 1
Alessandro Simonati et al.
ACTA NEUROPATHOLOGICA (2011)
Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement
Hatasu Kobayashi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
Yasmin Namavar et al.
BRAIN (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Mariely DeJesus-Hernandez et al.
NEURON (2011)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Alan E. Renton et al.
NEURON (2011)
Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia
Yasmin Namavar et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
Pontocerebellar Hypoplasia Type 6: A British Case With PEHO-Like Features
Julia Rankin et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Proneural gene-linked neurogenesis in zebrafish cerebellum
Shuichi Kani et al.
DEVELOPMENTAL BIOLOGY (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Autopsy Case of Later-Onset Pontocerebellar Hypoplasia Type 1: Pontine Atrophy and Pyramidal Tract Involvement
Masafumi Sanefuji et al.
JOURNAL OF CHILD NEUROLOGY (2010)
A map of human genome variation from population-scale sequencing
David Altshuler et al.
NATURE (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)
The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine
Leslie G. Biesecker et al.
GENOME RESEARCH (2009)
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Caroline Vance et al.
SCIENCE (2009)
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
T. J. Kwiatkowski et al.
SCIENCE (2009)
Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration - A late onset variant of PCH-1?
Dorit Lev et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2008)
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
Birgit S. Budde et al.
NATURE GENETICS (2008)
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
Edor Kabashi et al.
NATURE GENETICS (2008)
High-resolution in situ hybridization to whole-mount zebrafish embryos
Christine Thisse et al.
NATURE PROTOCOLS (2008)
Pontocerebellar Hypoplasia Type 1
Nora Szabo et al.
PEDIATRIC NEUROLOGY (2008)
RNA Exosome Depletion Reveals Transcription Upstream of Active Human Promoters
Pascal Preker et al.
SCIENCE (2008)
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
Jemeen Sreedharan et al.
SCIENCE (2008)
Hypotonia, Weakness, and Pontocerebellar Hypoplasia in Siblings
Chang-Yong Tsao et al.
SEMINARS IN PEDIATRIC NEUROLOGY (2008)
Activation of cytotoxic T lymphocytes against CML28-bearing tumors by dendritic cells transduced with a recombinant adeno-associated virus encoding the CML28 gene
Li-Hua Xie et al.
CANCER IMMUNOLOGY IMMUNOTHERAPY (2008)
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)
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
Ewan Birney et al.
NATURE (2007)
Reconstitution, activities, and structure of the eukaryotic RNA exosome
Quansheng Liu et al.
CELL (2006)
Pontocerebellar hypoplasia type 1:: New leads for an earlier diagnosis
MS Salman et al.
JOURNAL OF CHILD NEUROLOGY (2003)
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy
S Rudnik-Schöneborn et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Three novel components of the human exosome
R Brouwer et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Anterior horn cell disease and olivopontocerebellar hypoplasia
MM Ryan et al.
PEDIATRIC NEUROLOGY (2000)