Y. Goto

Y. Goto, S. Saitoh, Kayoko Saito, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

A loss‐of‐function mutation in the FTSJ1 gene causes nonsyndromic X‐linked mental retardation in a japanese family

Y. Goto, Kyoko Takano, S. Kure, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

MECP2 Duplication Syndrome in Male Patients with Severe Mental Retardation and Intractable Epilepsy

J. Inazawa, Y. Goto, J. Tohyama, 2010 .

Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.

Y. Goto, I. Nonaka, I. Nishino, 2009, Mitochondrion.

COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency

Y. Okada, Y. Goto, I. Nonaka, 2019, Annals of neurology.

The T-C(8356) mitochondrial DNA mutation in a Japanese family

Y. Goto, Satomi Shiota, M. Uchigata, 1996, Journal of Neurology.

A Caucasian family with the 3271 mutation in mitochondrial DNA.

M. Passos-Bueno, M. Zatz, Y. Goto, 1994, Biochemical medicine and metabolic biology.

Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNATrp

Y. Goto, I. Nishino, H. Hatakeyama, 2015, Acta Neuropathologica Communications.

Effect of curcumin in a mouse model of Pelizaeus-Merzbacher disease.

Y. Goto, T. Morimura, N. Inoue, 2012, Molecular genetics and metabolism.

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome

Y. Goto, Kyoko Takano, H. Osaka, 2014, Molecular genetics and metabolism reports.

A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions

Y. Goto, I. Nonaka, H. Komaki, 2002, Annals of neurology.

Clinical Picture of a Case of Diabetes With Mitochondrial tRNA Mutation at Position 3271

Y. Goto, I. Nonaka, Y. Atsumi, 1996, Diabetes Care.

Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation

Y. Goto, M. Sasaki, E. Nakagawa, 2011, Journal of the Neurological Sciences.

Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing

Yoshihiko Saito, Y. Goto, I. Nishino, 2022, Journal of Translational Medicine.

Renal and skin involvement in a patient with complete Kearns-Sayre syndrome.

Y. Goto, I. Nonaka, K. Mori, 1991, American journal of medical genetics.

Cytochrome c oxidase activity is deficient in blood vessels of patients with myoclonus epilepsy with ragged-red fibers

Y. Goto, I. Nonaka, T. Matsuoka, 2004, Acta Neuropathologica.

Twenty-six novel single nucleotide polymorphisms and their frequencies of the NR1I3 (CAR) gene in a Japanese population.

Teruhiko Yoshida, N. Saijo, Y. Goto, 2003, Drug metabolism and pharmacokinetics.

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

A. Vanderver, J. Soul, K. Maski, 2014, Molecular genetics and metabolism.

Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.

J. Lupski, M. Wegner, Y. Goto, 2007, Human molecular genetics.

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS)

Y. Goto, I. Nonaka, S. Horai, 1992, Neurology.

Reversible infantile respiratory chain deficiency: A clinical and molecular study

Tsutomu Suzuki, Y. Goto, I. Nonaka, 2010, Annals of neurology.

Myopathy in Marinesco-Sjögren syndrome: an ultrastructural study

Y. Goto, I. Nonaka, A. Komiyama, 2004, Acta Neuropathologica.

Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome

Y. Goto, I. Nonaka, I. Nishino, 2016, Neurology: Genetics.

Correlation of functional and ultrastructural abnormalities of mitochondria in mouse heart carrying a pathogenic mutant mtDNA with a 4696-bp deletion.

J. Hayashi, Y. Goto, I. Nonaka, 2001, Biochemical and biophysical research communications.

Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status

Y. Goto, S. Takeda, N. Minami, 2017, Stem cells international.

The P86L common allele of CALHM1 does not influence risk for Alzheimer disease in Japanese cohorts

T. Asada, F. Yamashita, Y. Goto, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Whole genome sequencing of 45 Japanese patients with intellectual disability

Y. Kamatani, M. Kubo, Y. Momozawa, 2021, American journal of medical genetics. Part A.

Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.

K. Yamakawa, H. Yamasue, K. Kasai, 2018, Cell reports.

Human mitochondria and mitochondrial genome function as a single dynamic cellular unit

J. Hayashi, M. Takemitsu, Y. Goto, 1994, The Journal of cell biology.

Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.

S. Dimauro, Y. Goto, S. Tsujino, 1998, Biochemical and biophysical research communications.

The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints

J. Inazawa, Y. Goto, I. Imoto, 2012, American journal of medical genetics. Part A.

Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation

J. Inazawa, Y. Goto, I. Imoto, 2011, Journal of Human Genetics.

Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis

J. Inazawa, Y. Goto, I. Imoto, 2010, Journal of Human Genetics.

A novel mtDNA C11777A mutation in Leigh syndrome.

Y. Goto, I. Nonaka, Takao Takahashi, 2003, Mitochondrion.

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

Y. Goto, I. Nonaka, S. Horai, 1991, Biochimica et biophysica acta.

Granular Swollen Epithelial Cells: A Histologic and Diagnostic Marker for Mitochondrial Nephropathy

Y. Goto, M. Nagata, Y. Yamaguchi, 2010, The American journal of surgical pathology.

Gene suppressing therapy for Pelizaeus-Merzbacher disease using artificial microRNA.

N. Ichinohe, Y. Goto, Kazuhisa Sakai, 2019, JCI insight.

Attenuation of endoplasmic reticulum stress in Pelizaeus-Merzbacher disease by an anti-malaria drug, chloroquine

Y. Goto, T. Morimura, Leo Gotoh, 2014, Experimental biology and medicine.

Clinical and molecular studies of mitochondrial disease

Y. Goto, 2001, Journal of Inherited Metabolic Disease.

CO2-sensitive tRNA modification associated with human mitochondrial disease

Tsutomu Suzuki, Y. Goto, Y. Sakaguchi, 2018, Nature Communications.

Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer's disease: New data and meta‐analysis

D. Comings, B. Hyman, T. Asada, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function.

R. Sakuta, J. Hayashi, S. Ohta, 1993, Biochemical and biophysical research communications.

Expression of MyoD and myogenin in dystrophic mice, mdx and dy, during regeneration

Y. Goto, I. Nonaka, N. Murakami, 2000, Acta Neuropathologica.

Five novel single nucleotide polymorphisms in the EPHX1 gene encoding microsomal epoxide hydrolase.

Y. Goto, Yoshiro Saito, S. Ozawa, 2003, Drug Metabolism and Pharmacokinetics.

Different X‐linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

Y. Goto, N. Matsumoto, N. Miyake, 2016, Clinical genetics.

Mitochondrial Disorder, Diabetes Mellitus, and Findings in Three Muscles, Including the Heart

Y. Goto, M. Bhattacharjee, K. Wong, 2006, Ultrastructural pathology.

Chemical reversal of abnormalities in cells carrying mitochondrial DNA mutations

Y. Goto, M. Shirouzu, Minoru Yoshida, 2020, Nature Chemical Biology.

Mitochondrial encephalomyopathy with elderly onset of stroke-like episodes.

Y. Goto, I. Nonaka, I. Nishino, 1996, Internal medicine.

Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene

Y. Goto, I. Nonaka, H. Komaki, 2000, Journal of Human Genetics.

NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy

Y. Goto, I. Nishino, C. Sakai, 2018, Clinical genetics.

A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy.

Y. Goto, I. Nonaka, I. Nishino, 1996, Biochemical and biophysical research communications.

Bilateral striatal lesions in a family with mitochondrial 14459G>A mutation

Y. Goto, Y. Miki, M. Tomiyama, 2014 .

Childhood-Onset Progressive Dystonia With Mitochondrial DNA G14459A Mutation

Y. Goto, M. Kubota, H. Ozawa, 2014, Child neurology open.

[A case of adult-onset mitochondrial encephalopathy due to m.4296G>A gene abnormality].

Y. Goto, Kai Takahashi, K. Ito, 2019, Rinsho shinkeigaku = Clinical neurology.

Six Novel Nonsynonymous CYP1A2 Gene Polymorphisms: Catalytic Activities of the Naturally Occurring Variant Enzymes

Kazuo Komamura, Yoshiro Saito, Shiro Kamakura, 2004, Journal of Pharmacology and Experimental Therapeutics.

Norie Murayama, Akiko Soyama, Yoshiro Saito, Yukiko Nakajima, Kazuo

Y. Goto, M. Kitakaze, S. Ozawa, 2003 .

Down syndrome cell adhesion molecule like-1 (DSCAML1) links the GABA system and seizure susceptibility

Y. Yanagawa, K. Yamakawa, A. Sekine, 2020, Acta neuropathologica communications.

MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNALeu(UUR) gene

Y. Goto, I. Nishino, M. Sasaki, 2014, Brain and Development.

Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report

Y. Goto, T. Uchiumi, D. Kang, 2017, BMC Neurology.

DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A

Y. Goto, S. Niwa, A. Sano, 2020, Journal of Human Genetics.

Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.

S. Dimauro, Y. Goto, I. Nonaka, 1994, Human molecular genetics.

A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome

Y. Goto, I. Nishino, A. Iida, 2019, Human Genome Variation.

A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding

Y. Goto, M. Sasaki, A. Iida, 2020, Journal of the Neurological Sciences.

Mitochondrial DNA variants in a Japanese population of patients with Alzheimer's disease.

T. Asada, F. Yamashita, Y. Goto, 2010, Mitochondrion.

Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes.

Y. Kagawa, J. Hayashi, S. Ohta, 1994, The Journal of biological chemistry.

Clinical implications of duplicated mtDNA in Pearson syndrome.

Y. Goto, N. Sakura, H. Kihara, 2001, American journal of medical genetics.

The association between haematological manifestation and mtDNA deletions in Pearson syndrome

Y. Goto, I. Nonaka, N. Sakura, 1997, Journal of Inherited Metabolic Disease.

Severe lactic acidosis and neonatal death in Pearson syndrome

Y. Goto, I. Nishino, S. Horai, 1997, Journal of Inherited Metabolic Disease.

A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

Y. Goto, I. Nonaka, S. Horai, 1994, Biochemical and biophysical research communications.

CYP2C8 haplotype structures and their influence on pharmacokinetics of paclitaxel in a Japanese population

Teruhiko Yoshida, N. Saijo, Y. Ohe, 2007, Pharmacogenetics & Genomics.

Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNATrp

Y. Goto, I. Nishino, H. Komaki, 2015, Acta neuropathologica communications.

[A case of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome with a novel mitochondrial mutation m.8729 G>A].

Y. Goto, I. Nishino, T. Toda, 2015, Rinsho shinkeigaku = Clinical neurology.

IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy

Y. Goto, I. Nonaka, Y. Hayashi, 2017, Neurology: Genetics.

Static Leukoencephalopathy Associated with 17p13.3 Microdeletion Syndrome: A Case Report

Y. Goto, M. Sasaki, E. Nakagawa, 2019, Neuropediatrics.

Differences in Evoked Potential Findings between DRPLA Patients and Patients with Cortical Reflex Myoclonus

K. Kasai, Y. Goto, M. Sekimoto, 2000 .

[MELAS (mitochondrial myopathy, encephalopathy lactic acidosis, and stroke-like episodes): clinical features and mitochondrial DNA mutations].

Y. Goto, 1993, Nihon rinsho. Japanese journal of clinical medicine.

Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNALeu(UUR) region

Y. Yazaki, Y. Goto, T. Asano, 1997, Diabetic medicine : a journal of the British Diabetic Association.

Tissue-specific involvement of multiple mitochondrial DNA deletions in familial mitochondrial myopathy.

S. Nishizuka, Y. Goto, I. Nonaka, 1998, Biochemical and biophysical research communications.

Detection of DNA fragments encompassing the deletion junction of mitochondrial genome.

Y. Goto, I. Nonaka, I. Nishino, 1996, Biochemical and Biophysical Research Communications - BBRC.

Importance of CAG repeat length in childhood-onset dentatorubral–pallidoluysian atrophy

Y. Goto, M. Sasaki, Hajime Tanaka, 2012, Journal of Neurology.

Hypoalbuminemia in early onset dentatorubral−pallidoluysian atrophy due to leakage of albumin in multiple organs

Y. Goto, S. Ito, K. Matsuoka, 2013, Journal of Neurology.

Correction to: DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A

Y. Goto, S. Niwa, A. Sano, 2020, Journal of human genetics.

Hyperglycemic Crisis in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS).

Y. Goto, I. Nishino, M. Sasaki, 2020, Pediatric neurology.

An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism.

R. Sakuta, Y. Goto, I. Nonaka, 1993, American journal of human genetics.

ミトコンドリアDNA 8729 G>A変異をみとめたneurogenic muscle weakness, ataxia, and retinitis pigmentosa（NARP）の1例

Y. Goto, I. Nishino, T. Toda, 2015 .

Granular Swollen Epithelial Cells: A Histologic and Diagnostic Marker for Mitochondrial Nephropathy

Y. Goto, M. Nagata, Y. Yamaguchi, 2010, American Journal of Surgical Pathology.

Five novel single nucleotide polymorphisms in the EPHX1 gene encoding microsomal epoxide hydrolase.

Y. Goto, Yoshiro Saito, S. Ozawa, 2003, Drug metabolism and pharmacokinetics.