Tetsuo Ashizawa mostly deals with Genetics, Myotonic dystrophy, Age of onset, Allele and Trinucleotide repeat expansion. His Genetics research includes elements of Benign familial infantile epilepsy, Pathogenesis, PRRT2, Paroxysmal dyskinesia and PNKD. His Myotonic dystrophy research is multidisciplinary, incorporating perspectives in MBNL1 and Myotonin-protein kinase.
His Myotonin-protein kinase research incorporates elements of CELF1 Protein, Molecular biology and Somatic cell. His Haplotype study in the realm of Allele connects with subjects such as GSTZ1. Tetsuo Ashizawa has researched Trinucleotide repeat expansion in several fields, including Epistasis, Huntington's disease and Locus.
His primary areas of study are Spinocerebellar ataxia, Genetics, Ataxia, Allele and Trinucleotide repeat expansion. His study in Spinocerebellar ataxia is interdisciplinary in nature, drawing from both Neurology and Cerebellar ataxia. In his study, which falls under the umbrella issue of Genetics, Anticipation and Degenerative disease is strongly linked to Age of onset.
As a part of the same scientific family, Tetsuo Ashizawa mostly works in the field of Ataxia, focusing on Rating scale and, on occasion, Severity of illness and Cohort. His Allele research includes themes of Machado–Joseph disease, Genetic association and Genotype. Tetsuo Ashizawa interconnects Myotonin-protein kinase, Muscular dystrophy and Somatic cell in the investigation of issues within Myotonic dystrophy.
His scientific interests lie mostly in Spinocerebellar ataxia, Ataxia, Genetics, Internal medicine and Trinucleotide repeat expansion. The study incorporates disciplines such as Neurology and Age of onset in addition to Spinocerebellar ataxia. Tetsuo Ashizawa has included themes like Clinical research, Pathological, Disease and Pediatrics in his Ataxia study.
Allele, Exome sequencing, Sanger sequencing, Biomarker and Phenotype are among the areas of Genetics where the researcher is concentrating his efforts. He focuses mostly in the field of Internal medicine, narrowing it down to matters related to Physical therapy and, in some cases, Physical medicine and rehabilitation. Tetsuo Ashizawa combines subjects such as Mutation, Penetrance and Sequence with his study of Trinucleotide repeat expansion.
Tetsuo Ashizawa spends much of his time researching Spinocerebellar ataxia, Ataxia, Trinucleotide repeat expansion, Genetics and Molecular biology. His Spinocerebellar ataxia research integrates issues from Allele and Age of onset. The concepts of his Ataxia study are interwoven with issues in Pathological, Dystonia, Neurology, Severity of illness and Pediatrics.
His work in the fields of Trinucleotide repeat expansion, such as DNA Repeat Expansion, overlaps with other areas such as Human genome. His research links Cerebellar ataxia with Genetics. Tetsuo Ashizawa has researched Molecular biology in several fields, including RNA, DNA damage, DNA repair and Neural stem cell.
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An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
YH Fu;A Pizzuti;RG Fenwick;J King.
Science (1992)
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease.
Demetrius M. Maraganore;Mariza De Andrade;Alexis Elbaz;Matthew J. Farrer.
JAMA (2006)
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia New diagnostic criteria
M. K. Bruno;M. Hallett;K. Gwinn-Hardy;B. Sorensen.
Neurology (2004)
Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.
YH Fu;DL Friedman;S Richards;JA Pearlman.
Science (1993)
RNA CUG Repeats Sequester CUGBP1 and Alter Protein Levels and Activity of CUGBP1
Nikolai A. Timchenko;Zong Jin Cai;Alana L. Welm;Sita Reddy.
Journal of Biological Chemistry (2001)
Variability and validity of polymorphism association studies in Parkinson's disease.
E. K. Tan;M. Khajavi;J. I. Thornby;S. Nagamitsu.
Neurology (2000)
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
J.-M. Lee;E.M. Ramos;J.-H. Lee;T. Gillis.
Neurology (2012)
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
S. H. Subramony;W. May;D. Lynch;C. Gomez.
Neurology (2005)
Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy
Konstantinos Charizanis;Kuang Yung Lee;Kuang Yung Lee;Ranjan Batra;Marianne Goodwin.
Neuron (2012)
New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)
T. Ashizawa;I. Gonzales;N. Ohsawa;R. H. Singer.
Neurology (2000)
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