Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
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Title
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Authors
Keywords
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Journal
Nature Communications
Volume 10, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-10-31
DOI
10.1038/s41467-019-12671-y
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Note: Only part of the references are listed.- Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
- (2019) Rahel T. Florian et al. Nature Communications
- Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1
- (2018) Zhidong Cen et al. BRAIN
- PARL partitions the lipid transfer protein STARD7 between the cytosol and mitochondria
- (2018) Shotaro Saita et al. EMBO JOURNAL
- Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
- (2018) Hiroyuki Ishiura et al. NATURE GENETICS
- Accurate detection of complex structural variations using single-molecule sequencing
- (2018) Fritz J. Sedlazeck et al. NATURE METHODS
- Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy
- (2018) Sheng Zeng et al. JOURNAL OF MEDICAL GENETICS
- Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data
- (2018) Rick M. Tankard et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution
- (2018) Joana R. Loureiro et al. HUMAN MUTATION
- Detection of long repeat expansions from PCR-free whole-genome sequence data
- (2017) Egor Dolzhenko et al. GENOME RESEARCH
- Genetic effects on gene expression across human tissues
- (2017) François Aguet et al. NATURE
- Familial cortical myoclonic tremor and epilepsy: Description of a new South African pedigree with 30 year follow up
- (2017) Riaan van Coller et al. PARKINSONISM & RELATED DISORDERS
- Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy
- (2016) Antonietta Coppola et al. EPILEPSY & BEHAVIOR
- Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2
- (2016) Lyndal Henden et al. HUMAN GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Transcript-level expression analysis of RNA-seq experiments with HISAT, StringTie and Ballgown
- (2016) Mihaela Pertea et al. Nature Protocols
- Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy
- (2016) Mark A. Corbett et al. NEUROLOGY
- Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
- (2015) Xiaoyu Chen et al. BIOINFORMATICS
- LUMPY: a probabilistic framework for structural variant discovery
- (2014) Ryan M Layer et al. GENOME BIOLOGY
- The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy
- (2013) Maurizio De Fusco et al. ANNALS OF NEUROLOGY
- Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy
- (2013) Pasquale Striano et al. BRAIN
- Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2
- (2013) Elisabeth Stogmann et al. BRAIN
- A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype
- (2013) Laura Licchetta et al. EPILEPSIA
- The Lipid Transfer Protein StarD7: Structure, Function, and Regulation
- (2013) Jésica Flores-Martin et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Familial Adult Myoclonic Epilepsy
- (2012) Lynette G. Sadleir ARCHIVES OF NEUROLOGY
- Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
- (2012) H. Thorvaldsdottir et al. BRIEFINGS IN BIOINFORMATICS
- A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28
- (2012) Patra Yeetong et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy
- (2011) Antonietta Coppola et al. EPILEPSIA
- Familial cortical myoclonic tremor with epilepsy: The third locus (FCMTE3) maps to 5p
- (2010) C. Depienne et al. NEUROLOGY
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- edgeR: a Bioconductor package for differential expression analysis of digital gene expression data
- (2009) M. D. Robinson et al. BIOINFORMATICS
- Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy
- (2009) Antonio Suppa et al. EPILEPSIA
- 1H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy
- (2008) Pasquale Striano et al. EPILEPSIA
- Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families
- (2008) Francesca Madia et al. NEUROGENETICS
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