N. Minami

发表

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Y. Goto, I. Nishino, M. Okubo, 2016, Journal of Human Genetics.

Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.

S. Tsuji, T. Kanda, Toshio Shimizu, 2021, JAMA neurology.

A novel Sac I RFLP in the 3′ untranslated region of the myotonin protein kinase gene

A. Nakamura, N. Minami, K. Arahata, 1999, Journal of Human Genetics.

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240kb deletion in Xq28 without male hypogenitalism

I. Nonaka, Y. Hayashi, I. Nishino, 2005, Neuromuscular Disorders.

Haplotype structures of EPHX1 and their effects on the metabolism of carbamazepine-10,11-epoxide in Japanese epileptic patients

Y. Goto, N. Kamatani, Yoshiro Saito, 2005, European Journal of Clinical Pharmacology.

Malignant Hyperthermia in Japan: Mutation Screening of the Entire Ryanodine Receptor Type 1 Gene Coding Region by Direct Sequencing

Y. Hayashi, I. Nishino, N. Minami, 2006, Anesthesiology.

Homozygous female Becker muscular dystrophy

J. Takanashi, I. Nonaka, Y. Hayashi, 2009, American journal of medical genetics. Part A.

Single nucleotide polymorphisms and haplotypes of CYP1A2 in a Japanese population.

Y. Goto, N. Kamatani, Yoshiro Saito, 2005, Drug metabolism and pharmacokinetics.

FUNCTIONAL CHARACTERIZATION OF FIVE NOVEL CYP 2 C 8 VARIANTS , G 171 S , R 186 X , R 186 G , K 247 R , AND K 383 N , FOUND IN A JAPANESE POPULATION

Teruhiko Yoshida, N. Saijo, Y. Ohe, 2005 .

FUNCTIONAL CHARACTERIZATION OF FIVE NOVEL CYP2C8 VARIANTS, G171S, R186X, R186G, K247R, AND K383N, FOUND IN A JAPANESE POPULATION

Teruhiko Yoshida, N. Saijo, Y. Ohe, 2005, Drug Metabolism and Disposition.

Social involvement issues in patients with Becker muscular dystrophy: A questionnaire survey of subjects from a patient registry

N. Yonemoto, I. Nishino, S. Yoshida, 2017, Brain and Development.

Cardiopulmonary dysfunction in patients with limb‐girdle muscular dystrophy 2A

I. Nonaka, I. Nishino, N. Minami, 2016, Muscle & nerve.

Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling

Y. Hayashi, I. Nishino, R. Kurokawa, 2007, Neuroscience Research.

Ullrich disease: Collagen VI deficiency: EM suggests a new basis for muscular weakness

I. Nonaka, I. Nishino, N. Minami, 2002, Neurology.

Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines.

Nobutaka Hattori, Hiroyuki Aburatani, Hiroyuki Tomiyama, 2010, American journal of human genetics.

A Nationwide Survey on Danon Disease in Japan

I. Nonaka, I. Nishino, H. Tsukaguchi, 2018, International journal of molecular sciences.

A novel congenital myopathy with apoptotic changes

I. Nonaka, K. Nihei, N. Minami, 2000, Annals of neurology.

Eleven novel single nucleotide polymorphisms in the NR1I2 (PXR) gene, four of which induce non-synonymous amino acid alterations.

Y. Goto, Yoshiro Saito, S. Koyano, 2002, Drug metabolism and pharmacokinetics.

Haplotypes of CYP3A4 and their close linkage with CYP3A5 haplotypes in a Japanese population

Teruhiko Yoshida, N. Saijo, Y. Goto, 2004, Human mutation.

Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene

Toshio Shimizu, Y. Hayashi, T. Komori, 2016, Neuromuscular Disorders.

Defective Myotilin Homodimerization Caused by a Novel Mutation in MYOT Exon 9 in the First Japanese Limb Girdle Muscular Dystrophy 1A Patient

I. Nonaka, Y. Hayashi, I. Nishino, 2009, Journal of neuropathology and experimental neurology.

Myotonic dystrophy type 2 is rare in the Japanese population

K. Ohno, Y. Hayashi, I. Nishino, 2012, Journal of Human Genetics.

Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions

I. Nishino, M. Sasaki, N. Minami, 2017, Neuromuscular Disorders.

Frontal lobe-dominant cerebral blood flow reduction and atrophy can be progressive in Duchenne muscular dystrophy

I. Nishino, S. Yoshida, Yuji Takahashi, 2022, Neuromuscular Disorders.

Respiratory Dysfunction in Becker Muscular Dystrophy Patients: A Case Series and Autopsy Report.

I. Nishino, Yuji Takahashi, N. Minami, 2020, Journal of neuromuscular diseases.

Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report

I. Nishino, Y. Aoki, Yuji Takahashi, 2020, Journal of Human Genetics.

Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies

I. Nonaka, Y. Hayashi, I. Nishino, 2012, PloS one.

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

I. Nonaka, I. Nishino, M. Ogasawara, 2022, Acta Neuropathologica Communications.

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.

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy

I. Nishino, W. Liang, Y. Jong, 2020, Orphanet Journal of Rare Diseases.

Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy

I. Nonaka, N. Minami, M. Nakagawa, 2001, Neuromuscular Disorders.

Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy

I. Nonaka, I. Nishino, S. Yoshida, 2019, Neuromuscular Disorders.

Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan.

I. Nishino, W. Liang, Y. Jong, 2015, Pediatrics and neonatology.

Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan

I. Nonaka, I. Nishino, N. Minami, 1999, Journal of the Neurological Sciences.

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

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

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.

MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy

I. Nonaka, I. Nishino, N. Minami, 1998, Neuromuscular Disorders.

Dysferlinopathy associated with rigid spine syndrome

I. Nonaka, Y. Hayashi, I. Nishino, 2004, Neuropathology : official journal of the Japanese Society of Neuropathology.

[Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy].

Y. Hayashi, I. Nishino, N. Minami, 2008, Rinsho shinkeigaku = Clinical neurology.

Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy

Y. Hayashi, I. Nishino, K. Abe, 2013, Journal of Human Genetics.

Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle.

I. Nishino, Y. Hayashi, N. Minami, 2003, Journal of biochemistry.

Severe Ocular Complications After Blepharoptosis Correction in the Oculopharyngeal Muscular Dystrophy Patient: Literature Review and Case Presentation.

I. Nishino, W. Liang, Chung-Sheng Lai, 2020, Annals of plastic surgery.

Oculopharyngeal muscular dystrophy associated with dementia.

I. Nonaka, I. Nishino, N. Araki, 2011, Internal medicine.

Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy

I. Nonaka, N. Minami, K. Ikezoe, 2001, Neuromuscular Disorders.

Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG)11 in PABP2 gene

M. Kase, I. Nonaka, T. Chuma, 2000, Neuromuscular Disorders.

A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation

I. Nishino, T. Mizuno, N. Minami, 2021, BMC Neurology.

Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman

I. Nonaka, I. Nishino, K. Wong, 2005, Neuromuscular Disorders.

Differences in evoked potential characteristics between DRPLA patients and patients with progressive myoclonic epilepsy: preliminary findings indicating usefulness for differential diagnosis

K. Kasai, Y. Minabe, M. Sekimoto, 1999, Epilepsy Research.

Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy

I. Nishino, Tomohiro Hayashi, Yuji Takahashi, 2021, Neuropathology and applied neurobiology.

Intra-myonuclear inclusions are diagnostic of oculopharyngeal muscular dystrophy

I. Nonaka, I. Nishino, M. Ogasawara, 2022, medRxiv.

A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion

I. Nishino, N. Minami, M. Morimoto, 2023, Journal of neuromuscular diseases.

Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis

I. Nonaka, T. Miike, N. Minami, 1998, Brain and Development.

A symptomatic male carrier of Duchenne muscular dystrophy with Klinefelter's syndrome mimicking Becker muscular dystrophy

I. Nishino, Y. Aoki, Yuji Takahashi, 2021, Neuromuscular Disorders.

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

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

Congenital myotonic dystrophy can show congenital fiber type disproportion pathology

I. Nonaka, Y. Hayashi, I. Nishino, 2010, Acta Neuropathologica.

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 .

A unique case of limb‐girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene

I. Nishino, E. Matsubara, M. Shoji, 2007, European Journal of Neurology.

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

Teruhiko Yoshida, N. Saijo, Y. Ohe, 2007, Pharmacogenetics and genomics.

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

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

Dentatorubral-pallidoluysian atrophy (DRPLA) presenting with psychosis.

S. Tsuji, T. Asada, K. Arima, 2001, The Journal of neuropsychiatry and clinical neurosciences.

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

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

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

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